#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
MIB2	142678	broad.mit.edu	37	1	1564037	1564037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:1564037C>G	ENST00000357210.4	+	16	2527	c.2311C>G	c.(2311-2313)Cag>Gag	p.Q771E	MIB2_ENST00000378710.3_Missense_Mutation_p.Q735E|MIB2_ENST00000378708.1_Missense_Mutation_p.Q677E|MIB2_ENST00000518681.1_Missense_Mutation_p.Q763E|MIB2_ENST00000378712.1_Missense_Mutation_p.Q648E|MIB2_ENST00000520777.1_Missense_Mutation_p.Q824E|MIB2_ENST00000355826.5_Missense_Mutation_p.Q814E|MIB2_ENST00000505820.2_Missense_Mutation_p.Q828E|MIB2_ENST00000504599.1_Missense_Mutation_p.Q727E|MIB2_ENST00000360522.4_Missense_Mutation_p.Q736E	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	771					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGTCATCAGCTGCTGCC	0.701																																						uc001agg.2		NaN																	0					0						c.(2311-2313)CAG>GAG		mindbomb homolog 2							9.0	13.0	12.0					1																	1564037		2029	4167	6196	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1564037C>G	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2311C>G	1.37:g.1564037C>G	ENSP00000349741:p.Gln771Glu					MIB2_uc001agh.2_Missense_Mutation_p.Q757E|MIB2_uc001agi.2_Missense_Mutation_p.Q767E|MIB2_uc001agj.2_Missense_Mutation_p.Q612E|MIB2_uc001agk.2_Missense_Mutation_p.Q706E|MIB2_uc001agl.1_Missense_Mutation_p.Q727E|MIB2_uc001agm.2_Missense_Mutation_p.Q648E|MIB2_uc010nyq.1_Missense_Mutation_p.Q727E|MIB2_uc009vkh.2_Missense_Mutation_p.Q577E|MIB2_uc001agn.2_Missense_Mutation_p.Q403E|MIB2_uc001ago.2_5'Flank	p.Q771E	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	16	2438	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	771			ANK 8.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2311C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.253428|2.253428	0.39797|0.39797	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	T;T;T;T;T;T;T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08|.	3.83|3.83	3.83|3.83	0.44106|0.44106	Ankyrin repeat-containing domain (3);|.	0.063313|.	0.64402|.	D|.	0.000004|.	T|.	0.54111|.	0.1838|.	L|L	0.31420|0.31420	0.93|0.93	0.49582|0.49582	D|D	0.999801|0.999801	B;P;P;B;D;D;B|.	0.54397|.	0.074;0.941;0.93;0.04;0.966;0.958;0.146|.	B;P;P;B;P;P;B|.	0.57468|.	0.039;0.657;0.559;0.065;0.821;0.66;0.101|.	T|.	0.51529|.	-0.8694|.	10|.	0.17369|.	T|.	0.5|.	-5.4953|-5.4953	14.8612|14.8612	0.70382|0.70382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	736;677;648;763;824;757;771|.	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;.;MIB2_HUMAN|.	E|X	824;771;736;735;814;763;828;648;727;677|586	ENSP00000428660:Q824E;ENSP00000349741:Q771E;ENSP00000353713:Q736E;ENSP00000367982:Q735E;ENSP00000348081:Q814E;ENSP00000428264:Q763E;ENSP00000426103:Q828E;ENSP00000367984:Q648E;ENSP00000426128:Q727E;ENSP00000367980:Q677E|.	ENSP00000348081:Q814E|.	Q|S	+|+	1|2	0|0	MIB2|MIB2	1553900|1553900	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.758000|0.758000	0.43043|0.43043	5.245000|5.245000	0.65405|0.65405	1.966000|1.966000	0.57179|0.57179	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.701	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_080875		4	5	0	0	0	0.000248	0	4	5		
MEGF6	1953	broad.mit.edu	37	1	3421837	3421837	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:3421837T>C	ENST00000356575.4	-	17	2349	c.2123A>G	c.(2122-2124)gAc>gGc	p.D708G	MEGF6_ENST00000294599.4_Missense_Mutation_p.D603G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	708						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCACGGAGTCACAGGCCAC	0.692																																					Ovarian(73;978 3658)	uc001akl.2		NaN																	0				large_intestine(1)	1						c.(2122-2124)GAC>GGC		EGF-like-domain, multiple 3 precursor							22.0	29.0	26.0					1																	3421837		2117	4240	6357	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3421837T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2123A>G	1.37:g.3421837T>C	ENSP00000348982:p.Asp708Gly					MEGF6_uc001akk.2_Missense_Mutation_p.D603G	p.D708G	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	17	2350	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	708					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2123A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853781	0.51270	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.61742	0.08;0.08	4.43	3.27	0.37495	.	0.317720	0.31542	N	0.007469	T	0.65354	0.2683	M	0.81614	2.55	0.38920	D	0.957712	P;P	0.48230	0.85;0.907	P;P	0.52554	0.589;0.702	T	0.66176	-0.5989	10	0.22109	T	0.4	-34.1895	10.1502	0.42788	0.0:0.0868:0.0:0.9132	.	708;603	O75095;O75095-2	MEGF6_HUMAN;.	G	603;708	ENSP00000294599:D603G;ENSP00000348982:D708G	ENSP00000294599:D603G	D	-	2	0	MEGF6	3411697	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	4.812000	0.62613	1.753000	0.51906	0.379000	0.24179	GAC		0.692	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409		6	35	0	0	0	0.001168	0	6	35		
NOL9	79707	broad.mit.edu	37	1	6589194	6589194	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:6589194G>C	ENST00000377705.5	-	10	1717	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	562					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGACATCAGAGTGGGTAAT	0.468																																						uc001ans.2		NaN																	0				skin(1)	1						c.(1684-1686)TCT>TGT		nucleolar protein 9							103.0	89.0	94.0					1																	6589194		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6589194G>C	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1685C>G	1.37:g.6589194G>C	ENSP00000366934:p.Ser562Cys					NOL9_uc010nzs.1_RNA	p.S562C	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	10	1704	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	562					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1685C>G	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093381	0.20471	.	.	ENSG00000162408	ENST00000377705	T	0.50277	0.75	5.66	4.73	0.59995	Pre-mRNA cleavage complex II Clp1 (1);	0.596066	0.17768	N	0.162666	T	0.24661	0.0598	N	0.01809	-0.71	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.18999	-1.0319	10	0.44086	T	0.13	-5.5736	14.35	0.66694	0.0:0.1493:0.8507:0.0	.	562	Q5SY16	NOL9_HUMAN	C	562	ENSP00000366934:S562C	ENSP00000366934:S562C	S	-	2	0	NOL9	6511781	0.800000	0.28916	0.012000	0.15200	0.741000	0.42261	5.561000	0.67339	1.368000	0.46115	0.561000	0.74099	TCT		0.468	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1		NM_024654		6	46	0	0	0	0.001984	0	6	46		
RERE	473	broad.mit.edu	37	1	8424172	8424172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:8424172C>G	ENST00000337907.3	-	16	2318	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q	RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400908.2_Missense_Mutation_p.E562Q|RERE_ENST00000476556.1_Missense_Mutation_p.E8Q|RERE_ENST00000377464.1_Missense_Mutation_p.E294Q|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	562					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCATCATCCTCTTCCTTGACG	0.587																																						uc001ape.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1684-1686)GAG>CAG		atrophin-1 like protein isoform a							88.0	77.0	81.0					1																	8424172		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424172C>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1684G>C	1.37:g.8424172C>G	ENSP00000338629:p.Glu562Gln					RERE_uc001apf.2_Missense_Mutation_p.E562Q|RERE_uc010nzx.1_Missense_Mutation_p.E294Q|RERE_uc001apd.2_Missense_Mutation_p.E8Q	p.E562Q	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2494	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	562					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1684G>C	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574629	0.86542	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.05717	3.4;3.4;3.4	5.17	5.17	0.71159	.	.	.	.	.	T	0.17831	0.0428	L	0.52573	1.65	0.80722	D	1	D;D	0.67145	0.996;0.982	P;P	0.60012	0.867;0.715	T	0.00135	-1.2007	9	0.44086	T	0.13	-21.9408	17.8323	0.88686	0.0:1.0:0.0:0.0	.	294;562	B1AKN3;Q9P2R6	.;RERE_HUMAN	Q	562;294;8;562	ENSP00000338629:E562Q;ENSP00000366684:E294Q;ENSP00000383700:E562Q	ENSP00000338629:E562Q	E	-	1	0	RERE	8346759	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.281000	0.78621	2.689000	0.91719	0.561000	0.74099	GAG		0.587	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				13	77	0	0	0	0.001855	0	13	77		
SLC25A33	84275	broad.mit.edu	37	1	9633411	9633411	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:9633411C>A	ENST00000302692.6	+	5	633	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	141					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTTTTATCACAAATTCCT	0.294																																						uc001apw.2		NaN																	0					0						c.(421-423)ATC>ATA		mitochondrial carrier protein MGC4399							58.0	59.0	59.0					1																	9633411		2202	4300	6502	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9633411C>A	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.423C>A	1.37:g.9633411C>A						SLC25A33_uc001apx.2_Silent_p.I74I	p.I141I	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	5	646	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	141			Solcar 2.|Helical; Name=3; (Potential).			Silent	SNP	ENST00000302692.6	37	c.423C>A	CCDS103.1																																																																																				0.294	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2		NM_032315		6	20	1	0	0.00116845	0.001168	0.0013894	6	20		
SRM	6723	broad.mit.edu	37	1	11116794	11116794	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:11116794C>A	ENST00000376957.2	-	4	482	c.402G>T	c.(400-402)aaG>aaT	p.K134N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	134	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	GCAGGAACTTCTTGGAGACTT	0.577																																						uc001arz.1		NaN																	0					0						c.(400-402)AAG>AAT		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						97.0	86.0	90.0					1																	11116794		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11116794C>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.402G>T	1.37:g.11116794C>A	ENSP00000366156:p.Lys134Asn					SRM_uc001ary.1_5'UTR	p.K134N	NM_003132	NP_003123	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	4	493	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	134					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.402G>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445573	0.84101	.	.	ENSG00000116649	ENST00000376957	T	0.80824	-1.42	5.08	5.08	0.68730	.	0.047278	0.85682	D	0.000000	D	0.90380	0.6989	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.91992	0.5604	10	0.87932	D	0	.	13.239	0.59985	0.0:0.9203:0.0:0.0797	.	134	P19623	SPEE_HUMAN	N	134	ENSP00000366156:K134N	ENSP00000366156:K134N	K	-	3	2	SRM	11039381	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.965000	0.56788	2.514000	0.84764	0.561000	0.74099	AAG		0.577	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1		NM_003132		11	48	1	0	6.40141e-05	0.000978	7.64982e-05	11	48		
VPS13D	55187	broad.mit.edu	37	1	12326961	12326961	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12326961C>G	ENST00000358136.3	+	14	1748	c.1618C>G	c.(1618-1620)Ctt>Gtt	p.L540V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L540V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCAGAGTCTCTTCCTCGAAG	0.368																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(1618-1620)CTT>GTT		vacuolar protein sorting 13D isoform 1							80.0	77.0	78.0					1																	12326961		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12326961C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1618C>G	1.37:g.12326961C>G	ENSP00000350854:p.Leu540Val					VPS13D_uc001atw.2_Missense_Mutation_p.L540V	p.L540V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	14	1759	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	540						Missense_Mutation	SNP	ENST00000358136.3	37	c.1618C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906941	0.72868	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.42900	0.96;0.96	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.915;0.991	T	0.50268	-0.8848	10	0.25106	T	0.35	.	12.2156	0.54404	0.0:0.9228:0.0:0.0772	.	540;540	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	540	ENSP00000348666:L540V;ENSP00000350854:L540V	ENSP00000348666:L540V	L	+	1	0	VPS13D	12249548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.949000	0.56668	2.695000	0.91970	0.655000	0.94253	CTT		0.368	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		22	42	0	0	0	0.001882	0	22	42		
VPS13D	55187	broad.mit.edu	37	1	12336868	12336868	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:12336868G>C	ENST00000358136.3	+	19	3353	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1075Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTACCAAAGAGCAAGAGTC	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(3223-3225)GAG>CAG		vacuolar protein sorting 13D isoform 1							129.0	130.0	130.0					1																	12336868		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12336868G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3223G>C	1.37:g.12336868G>C	ENSP00000350854:p.Glu1075Gln		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_uc001atw.2_Missense_Mutation_p.E1075Q|VPS13D_uc001atx.2_Missense_Mutation_p.E263Q	p.E1075Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3364	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1075						Missense_Mutation	SNP	ENST00000358136.3	37	c.3223G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726356	0.48833	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.46451	0.87;0.87	6.17	6.17	0.99709	.	0.048793	0.85682	D	0.000000	T	0.35098	0.0920	N	0.24115	0.695	0.80722	D	1	B;B	0.27559	0.145;0.181	B;B	0.29267	0.068;0.1	T	0.05484	-1.0882	10	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1075;1075	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	Q	1075	ENSP00000348666:E1075Q;ENSP00000350854:E1075Q	ENSP00000348666:E1075Q	E	+	1	0	VPS13D	12259455	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.188000	0.65093	2.941000	0.99782	0.655000	0.94253	GAG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		32	80	0	0	0	0.002836	0	32	80		
ARHGEF19	128272	broad.mit.edu	37	1	16532692	16532692	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:16532692G>C	ENST00000270747.3	-	7	1417	c.1281C>G	c.(1279-1281)gtC>gtG	p.V427V	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	427	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCTCTTGACCTCGGGCA	0.647																																						uc001ayc.1		NaN																	0				skin(2)|ovary(1)	3						c.(1279-1281)GTC>GTG		Rho guanine nucleotide exchange factor (GEF) 19							44.0	38.0	40.0					1																	16532692		2203	4299	6502	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532692G>C	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1281C>G	1.37:g.16532692G>C						ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	p.V427V	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	7	1418	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	427			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.1281C>G	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145596	0.21288	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4408	0.50096	0.0:0.1824:0.8176:0.0	.	.	.	.	X	116	.	.	S	-	2	0	ARHGEF19	16405279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.834000	0.39171	2.274000	0.75844	0.555000	0.69702	TCA		0.647	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1		NM_153213		5	14	0	0	0	0.001984	0	5	14		
KLHDC7A	127707	broad.mit.edu	37	1	18808555	18808555	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:18808555C>T	ENST00000400664.1	+	1	1132	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	360						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGAGGCTTCAGCCGGAAGG	0.692																																						uc001bax.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1078-1080)TTC>TTT		kelch domain containing 7A							12.0	16.0	15.0					1																	18808555		2102	4204	6306	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808555C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1080C>T	1.37:g.18808555C>T						KLHDC7A_uc009vpg.2_Silent_p.F142F	p.F360F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1132	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	360			Kelch 1.		Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1080C>T	CCDS185.2																																																																																				0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3		NM_152375		5	23	0	0	0	0.00308	0	5	23		
UBR4	23352	broad.mit.edu	37	1	19494588	19494588	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:19494588G>T	ENST00000375254.3	-	28	3859	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	UBR4_ENST00000375226.2_Missense_Mutation_p.L1278M|UBR4_ENST00000375267.2_Missense_Mutation_p.L1278M|UBR4_ENST00000375217.2_Missense_Mutation_p.L1278M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCAGGGGCAGACTTTGGCTA	0.512																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(3832-3834)CTG>ATG		retinoblastoma-associated factor 600							106.0	102.0	103.0					1																	19494588		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19494588G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3832C>A	1.37:g.19494588G>T	ENSP00000364403:p.Leu1278Met					UBR4_uc001bbm.1_Missense_Mutation_p.L489M	p.L1278M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	28	3836	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1278					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3832C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711970	0.68730	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000002	T	0.73877	0.3643	N	0.22421	0.69	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.75822	-0.3182	10	0.66056	D	0.02	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	1278	Q5T4S7	UBR4_HUMAN	M	1278;1278;1278;1278;494	ENSP00000364403:L1278M;ENSP00000364416:L1278M;ENSP00000364365:L1278M;ENSP00000364374:L1278M	ENSP00000364365:L1278M	L	-	1	2	UBR4	19367175	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.937000	0.63513	2.832000	0.97577	0.655000	0.94253	CTG		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		36	78	1	0	6.05902e-23	0.003755	7.72123e-23	36	78		
CLIC4	25932	broad.mit.edu	37	1	25167380	25167380	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:25167380G>A	ENST00000374379.4	+	6	911	c.714G>A	c.(712-714)aaG>aaA	p.K238K		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	238	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCAGTGATAAGGAGGTTGAAA	0.398																																						uc001bjo.2		NaN																	0					0						c.(712-714)AAG>AAA		chloride intracellular channel 4							127.0	118.0	121.0					1																	25167380		2203	4300	6503	SO:0001819	synonymous_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25167380G>A	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.714G>A	1.37:g.25167380G>A						CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Silent_p.K218K	p.K238K	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	6	999	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	238			GST C-terminal.		Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	c.714G>A	CCDS256.1																																																																																				0.398	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1		NM_013943		34	78	0	0	0	0.004878	0	34	78		
FAM46B	115572	broad.mit.edu	37	1	27332842	27332842	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:27332842G>A	ENST00000289166.5	-	2	1036	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	291										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGGGGCCGGAAGCCCCGC	0.677																																						uc010ofj.1		NaN																	0				central_nervous_system(1)	1						c.(871-873)CGG>TGG		hypothetical protein LOC115572							17.0	20.0	19.0					1																	27332842		2196	4292	6488	SO:0001583	missense	115572							g.chr1:27332842G>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.871C>T	1.37:g.27332842G>A	ENSP00000289166:p.Arg291Trp						p.R291W	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1043	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	291						Missense_Mutation	SNP	ENST00000289166.5	37	c.871C>T	CCDS294.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221595	0.79464	.	.	ENSG00000158246	ENST00000289166	T	0.29917	1.55	5.31	4.39	0.52855	Domain of unknown function DUF1693 (1);	0.236488	0.42682	D	0.000668	T	0.57577	0.2063	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.64888	-0.6301	10	0.87932	D	0	0.0197	13.3575	0.60635	0.0:0.0:0.6382:0.3618	.	291	Q96A09	FA46B_HUMAN	W	291	ENSP00000289166:R291W	ENSP00000289166:R291W	R	-	1	2	FAM46B	27205429	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.337000	0.33862	1.435000	0.47434	0.561000	0.74099	CGG		0.677	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2		NM_052943		7	33	0	0	0	0.00308	0	7	33		
TAF12	6883	broad.mit.edu	37	1	28931934	28931934	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:28931934C>T	ENST00000263974.4	-	5	834	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.E134K	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	134					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGGATTTCTTCAGAGCCAAAT	0.517																																						uc001bqw.2		NaN																	0				ovary(1)	1						c.(400-402)GAA>AAA		TAF12 RNA polymerase II, TATA box binding							138.0	136.0	137.0					1																	28931934		2203	4300	6503	SO:0001583	missense	6883				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity	g.chr1:28931934C>T	BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"""	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.400G>A	1.37:g.28931934C>T	ENSP00000263974:p.Glu134Lys					TAF12_uc001bqx.2_Missense_Mutation_p.E134K|TAF12_uc001bqy.2_Missense_Mutation_p.E134K|TAF12_uc009vti.2_Missense_Mutation_p.E134K	p.E134K	NM_005644	NP_005635	Q16514	TAF12_HUMAN		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	4	493	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)	134					D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000263974.4	37	c.400G>A	CCDS326.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539401	0.85917	.	.	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.65	4.74	0.60224	Transcription initiation factor TFIID (1);	0.046927	0.85682	D	0.000000	T	0.60235	0.2253	L	0.57536	1.79	0.58432	D	0.999997	P;P	0.45396	0.561;0.857	B;P	0.46275	0.189;0.51	T	0.65249	-0.6214	9	0.87932	D	0	-16.7248	13.3732	0.60725	0.0:0.9226:0.0:0.0774	.	104;134	Q16514-2;Q16514	.;TAF12_HUMAN	K	134	.	ENSP00000263974:E134K	E	-	1	0	TAF12	28804521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.355000	0.79434	1.396000	0.46663	0.585000	0.79938	GAA		0.517	TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1		NM_005644		35	88	0	0	0	0.003271	0	35	88		
CCDC28B	79140	broad.mit.edu	37	1	32669900	32669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:32669900G>C	ENST00000373602.5	+	4	792	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	IQCC_ENST00000537469.1_5'Flank|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_Intron|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Missense_Mutation_p.E149Q	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	149					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAAGAGGAAGAGGATGGGGT	0.582																																						uc001bul.1		NaN																	0					0						c.(445-447)GAG>CAG		coiled-coil domain containing 28B							112.0	105.0	107.0					1																	32669900		2203	4300	6503	SO:0001583	missense	79140							g.chr1:32669900G>C	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.445G>C	1.37:g.32669900G>C	ENSP00000362704:p.Glu149Gln					CCDC28B_uc001buk.2_Missense_Mutation_p.E149Q|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	p.E149Q	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN			4	577	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	149					A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	c.445G>C	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037115	0.35893	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.45668	0.92;0.89	4.68	2.75	0.32379	.	0.594351	0.16818	N	0.198272	T	0.23766	0.0575	N	0.22421	0.69	0.28766	N	0.900622	P	0.45902	0.868	B	0.39379	0.298	T	0.06826	-1.0805	10	0.29301	T	0.29	-23.3917	5.5982	0.17339	0.1011:0.0:0.7037:0.1953	.	149	Q9BUN5	CC28B_HUMAN	Q	149	ENSP00000362704:E149Q;ENSP00000413017:E149Q	ENSP00000362704:E149Q	E	+	1	0	CCDC28B	32442487	0.998000	0.40836	0.901000	0.35422	0.997000	0.91878	0.923000	0.28757	0.676000	0.31285	0.561000	0.74099	GAG		0.582	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4		NM_024296		9	55	0	0	0	0.006214	0	9	55		
CSMD2	114784	broad.mit.edu	37	1	33985159	33985159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:33985159C>T	ENST00000373381.4	-	70	11031	c.10855G>A	c.(10855-10857)Gag>Aag	p.E3619K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3475						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTCCGCCTCGCTGGCCATG	0.612																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(10423-10425)GAG>AAG		CUB and Sushi multiple domains 2							255.0	208.0	224.0					1																	33985159		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985159C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10855G>A	1.37:g.33985159C>T	ENSP00000362479:p.Glu3619Lys					CSMD2_uc001bxm.1_Missense_Mutation_p.E3619K	p.E3475K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			69	10452	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3475			Cytoplasmic (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10423G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.451254	0.84209	.	.	ENSG00000121904	ENST00000373381	T	0.23552	1.9	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.57536	1.79	0.80722	D	1	P;P	0.52692	0.955;0.955	P;B	0.44673	0.457;0.402	T	0.03493	-1.1031	10	0.52906	T	0.07	.	11.3337	0.49492	0.0:0.9166:0.0:0.0834	.	3475;3619	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	3619	ENSP00000362479:E3619K	ENSP00000241312:E3475K	E	-	1	0	CSMD2	33757746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.681000	0.68175	2.505000	0.84491	0.561000	0.74099	GAG		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		44	178	0	0	0	0.002222	0	44	178		
CLSPN	63967	broad.mit.edu	37	1	36202663	36202663	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36202663G>C	ENST00000318121.3	-	24	3818	c.3761C>G	c.(3760-3762)tCa>tGa	p.S1254*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.S1201*|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.S1254*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.S1190*|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'UTR	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1254					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTAGCAGTGAGCCTGTCTT	0.463																																						uc001bzi.2		NaN																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3760-3762)TCA>TGA		claspin							79.0	82.0	81.0					1																	36202663		2203	4300	6503	SO:0001587	stop_gained	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36202663G>C	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3761C>G	1.37:g.36202663G>C	ENSP00000312995:p.Ser1254*					CLSPN_uc009vux.2_Nonsense_Mutation_p.S1190*	p.S1254*	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			24	3841	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1254					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	c.3761C>G	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	43	10.070331	0.99330	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6907	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1254;1254;1190;1201	.	ENSP00000251195:S1254X	S	-	2	0	CLSPN	35975250	1.000000	0.71417	0.981000	0.43875	0.955000	0.61496	9.226000	0.95229	2.941000	0.99782	0.655000	0.94253	TCA		0.463	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111		21	107	0	0	0	0.001523	0	21	107		
MRPS15	64960	broad.mit.edu	37	1	36927747	36927747	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:36927747C>T	ENST00000373116.5	-	3	354	c.193G>A	c.(193-195)Gat>Aat	p.D65N	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	65				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). {ECO:0000305}.	translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTGGGTCATCATCCAGCCTA	0.537																																						uc001cas.2		NaN																	0				ovary(1)	1						c.(193-195)GAT>AAT		mitochondrial ribosomal protein S15 precursor							114.0	108.0	110.0					1																	36927747		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36927747C>T	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.193G>A	1.37:g.36927747C>T	ENSP00000362208:p.Asp65Asn						p.D65N	NM_031280	NP_112570	P82914	RT15_HUMAN			3	357	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	65	GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).				B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.193G>A	CCDS411.1	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689675	0.14973	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.09	0.273	0.15650	.	0.451387	0.26800	N	0.022432	T	0.41419	0.1158	M	0.75264	2.295	0.23689	N	0.997104	B	0.17667	0.023	B	0.15052	0.012	T	0.34551	-0.9824	9	0.44086	T	0.13	-3.3353	5.5001	0.16825	0.0:0.6194:0.1546:0.226	.	65	P82914	RT15_HUMAN	N	65	.	ENSP00000362208:D65N	D	-	1	0	MRPS15	36700334	0.929000	0.31497	0.076000	0.20297	0.038000	0.13279	1.049000	0.30392	-0.253000	0.09514	0.655000	0.94253	GAT		0.537	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2		NM_031280		31	39	0	0	0	0.002096	0	31	39		
EPHA10	284656	broad.mit.edu	37	1	38192827	38192827	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:38192827G>A	ENST00000373048.4	-	8	1718	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	EPHA10_ENST00000330210.7_Silent_p.I68I|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.I573I|EPHA10_ENST00000540011.1_Silent_p.I68I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	573					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGGGCCGAGATGGTCACTA	0.637																																						uc009vvi.2		NaN																	0				breast(4)|stomach(3)|lung(1)	8						c.(1717-1719)ATC>ATT		EPH receptor A10 isofom 3							61.0	76.0	71.0					1																	38192827		2079	4208	6287	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192827G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1719C>T	1.37:g.38192827G>A						EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.I573I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			8	1805	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	573			Helical; (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1719C>T	CCDS41305.1																																																																																				0.637	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641		6	26	0	0	0	0.001168	0	6	26		
KIAA0754	643314	broad.mit.edu	37	1	39879406	39879406	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:39879406G>A	ENST00000530275.1	+	1	3256	c.3061G>A	c.(3061-3063)Gcc>Acc	p.A1021T	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1021	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAATCCGCCTCCGCAGC	0.682																																						uc009vvt.1		NaN																	0					0						c.(3469-3471)GCC>ACC		hypothetical protein LOC643314							18.0	22.0	20.0					1																	39879406		1940	4131	6071	SO:0001583	missense	643314							g.chr1:39879406G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3061G>A	1.37:g.39879406G>A	ENSP00000431179:p.Ala1021Thr					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.A1157T	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4231	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1021			Ala-rich.|12.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3469G>A		.	.	.	.	.	.	.	.	.	.	N	10.67	1.415356	0.25552	.	.	ENSG00000255103	ENST00000530275	T	0.24350	1.86	4.52	0.105	0.14535	.	.	.	.	.	T	0.10035	0.0246	N	0.14661	0.345	0.09310	N	1	P	0.37441	0.595	B	0.27500	0.08	T	0.21042	-1.0257	9	0.29301	T	0.29	.	4.2402	0.10645	0.3725:0.0:0.4745:0.153	.	1021	O94854	K0754_HUMAN	T	1021	ENSP00000431179:A1021T	ENSP00000431179:A1021T	A	+	1	0	RP4-562N20.1	39651993	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.221000	0.09202	0.140000	0.18849	0.391000	0.25812	GCC		0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		6	33	0	0	0	0.001168	0	6	33		
NT5C1A	84618	broad.mit.edu	37	1	40131848	40131848	+	Missense_Mutation	SNP	C	C	G	rs372647397		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:40131848C>G	ENST00000235628.1	-	2	195	c.196G>C	c.(196-198)Gag>Cag	p.E66Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	66					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCTCCTCGTCCATGCGA	0.582																																						uc001cdq.1		NaN																	0				ovary(1)	1						c.(196-198)GAG>CAG		5'-nucleotidase, cytosolic IA							111.0	86.0	94.0					1																	40131848		2202	4300	6502	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131848C>G	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.196G>C	1.37:g.40131848C>G	ENSP00000235628:p.Glu66Gln						p.E66Q	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	196	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	66					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.196G>C	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984591	0.53934	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.56	4.56	0.56223	.	0.327187	0.32640	N	0.005826	T	0.70771	0.3262	M	0.78223	2.4	0.40469	D	0.980326	P	0.42123	0.771	P	0.45660	0.489	T	0.78114	-0.2330	9	0.72032	D	0.01	0.0014	17.7572	0.88452	0.0:1.0:0.0:0.0	.	66	Q9BXI3	5NT1A_HUMAN	Q	66	.	ENSP00000235628:E66Q	E	-	1	0	NT5C1A	39904435	0.988000	0.35896	0.982000	0.44146	0.996000	0.88848	2.604000	0.46274	2.271000	0.75665	0.650000	0.86243	GAG		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1		NM_032526		13	60	0	0	0	0.001855	0	13	60		
SZT2	23334	broad.mit.edu	37	1	43896036	43896036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896036G>C	ENST00000562955.1	+	30	4285	c.4285G>C	c.(4285-4287)Gag>Cag	p.E1429Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E587Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1486					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGAGTTTTCAGAGGCTGAGCT	0.522																																						uc001cjk.1		NaN																	0					0						c.(1759-1761)GAG>CAG		hypothetical protein LOC23334							134.0	132.0	133.0					1																	43896036		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43896036G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4285G>C	1.37:g.43896036G>C	ENSP00000457168:p.Glu1429Gln						p.E587Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			16	2221	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1486					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.1759G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655457	0.47467	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	L	0.34521	1.04	0.21984	N	0.99944	D	0.76494	0.999	D	0.66351	0.943	T	0.54057	-0.8350	9	0.49607	T	0.09	.	19.4174	0.94706	0.0:0.0:1.0:0.0	.	1429	Q5T011-5	.	Q	587	.	ENSP00000361519:E587Q	E	+	1	0	SZT2	43668623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.157000	0.64911	2.833000	0.97629	0.655000	0.94253	GAG		0.522	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		27	59	0	0	0	0.008361	0	27	59		
SZT2	23334	broad.mit.edu	37	1	43896196	43896196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43896196G>T	ENST00000562955.1	+	31	4339	c.4339G>T	c.(4339-4341)Gag>Tag	p.E1447*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.E605*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1504					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGTGGTCACTGAGAGTGACCC	0.562																																						uc001cjk.1		NaN																	0					0						c.(1813-1815)GAG>TAG		hypothetical protein LOC23334							67.0	66.0	67.0					1																	43896196		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43896196G>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4339G>T	1.37:g.43896196G>T	ENSP00000457168:p.Glu1447*						p.E605*	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			17	2275	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1504					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.1813G>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	43	10.145080	0.99346	.	.	ENSG00000198198	ENST00000372442	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	605	.	ENSP00000361519:E605X	E	+	1	0	SZT2	43668783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.295000	0.96095	2.941000	0.99782	0.655000	0.94253	GAG		0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		26	53	1	0	4.22769e-11	0.00632	5.26178e-11	26	53		
SZT2	23334	broad.mit.edu	37	1	43905590	43905590	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43905590G>C	ENST00000562955.1	+	50	6910	c.6910G>C	c.(6910-6912)Gaa>Caa	p.E2304Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E1462Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2361					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTGGGAAAAGGGGAA	0.577																																						uc001cjk.1		NaN																	0					0						c.(4384-4386)GAA>CAA		hypothetical protein LOC23334							78.0	81.0	80.0					1																	43905590		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43905590G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6910G>C	1.37:g.43905590G>C	ENSP00000457168:p.Glu2304Gln						p.E1462Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			36	4846	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2361					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4384G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101147	0.76983	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	L	0.38175	1.15	0.36662	D	0.878013	D	0.89917	1.0	D	0.87578	0.998	T	0.74185	-0.3747	9	0.62326	D	0.03	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	2304	Q5T011-5	.	Q	1462	.	ENSP00000361519:E1462Q	E	+	1	0	SZT2	43678177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.631000	0.90991	2.760000	0.94817	0.655000	0.94253	GAA		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		27	45	0	0	0	0.007291	0	27	45		
SZT2	23334	broad.mit.edu	37	1	43908143	43908143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:43908143G>C	ENST00000562955.1	+	57	7834	c.7834G>C	c.(7834-7836)Gac>Cac	p.D2612H	SZT2_ENST00000372442.1_Missense_Mutation_p.D1770H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2669					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGGGCTCCAGACCTGGGGGC	0.617																																						uc001cjk.1		NaN																	0					0						c.(5308-5310)GAC>CAC		hypothetical protein LOC23334							56.0	58.0	57.0					1																	43908143		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43908143G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7834G>C	1.37:g.43908143G>C	ENSP00000457168:p.Asp2612His						p.D1770H	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			43	5770	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2669					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5308G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605635	0.66445	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	L	0.48642	1.525	0.43579	D	0.995911	D	0.89917	1.0	D	0.91635	0.999	T	0.77803	-0.2451	9	0.87932	D	0	.	18.6376	0.91384	0.0:0.0:1.0:0.0	.	2612	Q5T011-5	.	H	1770	.	ENSP00000361519:D1770H	D	+	1	0	SZT2	43680730	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.759000	0.98931	2.397000	0.81536	0.655000	0.94253	GAC		0.617	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284		24	55	0	0	0	0.00333	0	24	55		
HECTD3	79654	broad.mit.edu	37	1	45472910	45472910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45472910C>T	ENST00000372172.4	-	11	1608	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.E123K	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	513	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGGGCTTTTCATATTTGTCA	0.498																																						uc009vxk.2		NaN																	0					0						c.(1537-1539)GAA>AAA		HECT domain containing 3							105.0	104.0	104.0					1																	45472910		1945	4138	6083	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45472910C>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1537G>A	1.37:g.45472910C>T	ENSP00000361245:p.Glu513Lys					HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.E123K|HECTD3_uc010olh.1_Missense_Mutation_p.E229K	p.E513K	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			11	1635	-	Acute lymphoblastic leukemia(166;0.155)		513			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1537G>A	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564853	0.45694	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.60171	0.21;0.52	5.83	5.83	0.93111	HECT (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.44542	1.39	0.80722	D	1	P;P	0.40970	0.734;0.655	B;B	0.35114	0.196;0.194	T	0.39354	-0.9618	10	0.13108	T	0.6	.	15.2272	0.73359	0.0:0.931:0.0:0.069	.	513;123	Q5T447;Q5T447-2	HECD3_HUMAN;.	K	513;123	ENSP00000361245:E513K;ENSP00000361241:E123K	ENSP00000361241:E123K	E	-	1	0	HECTD3	45245497	0.703000	0.27826	1.000000	0.80357	0.999000	0.98932	1.365000	0.34182	2.750000	0.94351	0.655000	0.94253	GAA		0.498	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1		NM_024602		20	101	0	0	0	0.00278	0	20	101		
ZSWIM5	57643	broad.mit.edu	37	1	45671765	45671765	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:45671765G>T	ENST00000359600.5	-	1	463	c.258C>A	c.(256-258)ttC>ttA	p.F86L	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	86						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGATCCGCTCGAAGCGCTCCT	0.667																																						uc001cnd.2		NaN																	0					0						c.(256-258)TTC>TTA		zinc finger, SWIM domain containing 5							17.0	19.0	19.0					1																	45671765		1942	4113	6055	SO:0001583	missense	57643						zinc ion binding	g.chr1:45671765G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.258C>A	1.37:g.45671765G>T	ENSP00000352614:p.Phe86Leu						p.F86L	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	486	-	Acute lymphoblastic leukemia(166;0.155)		86					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.258C>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615186	0.66672	.	.	ENSG00000162415	ENST00000359600	T	0.54071	0.59	1.9	0.959	0.19624	.	0.000000	0.64402	U	0.000001	T	0.52025	0.1709	L	0.52011	1.625	0.45962	D	0.998788	P	0.40553	0.721	P	0.49276	0.605	T	0.50964	-0.8765	10	0.62326	D	0.03	-4.3246	8.0228	0.30419	0.141:0.0:0.859:0.0	.	86	Q9P217	ZSWM5_HUMAN	L	86	ENSP00000352614:F86L	ENSP00000352614:F86L	F	-	3	2	ZSWIM5	45444352	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.547000	0.60712	0.387000	0.25024	0.442000	0.29010	TTC		0.667	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2		XM_046581		10	24	1	0	5.16669e-11	0.000978	6.42489e-11	10	24		
CYP4A11	1579	broad.mit.edu	37	1	47399996	47399996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:47399996C>T	ENST00000310638.4	-	8	971	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CYP4A11_ENST00000457840.2_Silent_p.*158*|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E314K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E315K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	314					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GTGTCCACCTCAGCACGGAGG	0.547																																						uc001cqp.3		NaN																	0				ovary(2)|skin(2)	4						c.(940-942)GAG>AAG		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						33.0	32.0	33.0					1																	47399996		2203	4280	6483	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399996C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.940G>A	1.37:g.47399996C>T	ENSP00000311095:p.Glu314Lys					CYP4A11_uc001cqq.2_Missense_Mutation_p.E314K|CYP4A11_uc010omm.1_RNA	p.E314K	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			8	991	-			314					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.940G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	36	5.650924	0.96714	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70045	-0.45;-0.45;-0.45	5.01	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	H	0.96208	3.785	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.90665	0.4593	10	0.87932	D	0	.	13.9738	0.64257	0.0:0.925:0.0:0.075	.	314	Q02928	CP4AB_HUMAN	K	314;315;314	ENSP00000311095:E314K;ENSP00000360971:E315K;ENSP00000360972:E314K	ENSP00000311095:E314K	E	-	1	0	CYP4A11	47172583	1.000000	0.71417	0.114000	0.21550	0.659000	0.38960	5.961000	0.70356	1.219000	0.43474	0.650000	0.86243	GAG		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778		16	24	0	0	0	0.004656	0	16	24		
CYP4A22	284541	broad.mit.edu	37	1	47610264	47610264	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:47610264G>A	ENST00000371891.3	+	8	971	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CYP4A22_ENST00000294337.3_Missense_Mutation_p.E314K|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	314						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E314Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCGTGCTGAGGTGGACAC	0.552																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(940-942)GAG>AAG		cytochrome P450, family 4, subfamily A,							121.0	117.0	119.0					1																	47610264		2203	4297	6500	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610264G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.940G>A	1.37:g.47610264G>A	ENSP00000360958:p.Glu314Lys					CYP4A22_uc009vyo.2_Missense_Mutation_p.E314K|CYP4A22_uc009vyp.2_Intron	p.E314K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			8	991	+			314					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.940G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.947719	0.73787	.	.	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.70045	-0.45;-0.45	1.51	1.51	0.23008	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	H	0.95982	3.75	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.87862	0.2665	10	0.87932	D	0	.	11.2947	0.49272	0.0:0.0:1.0:0.0	.	314	Q5TCH4	CP4AM_HUMAN	K	314	ENSP00000360958:E314K;ENSP00000294337:E314K	ENSP00000294337:E314K	E	+	1	0	CYP4A22	47382851	1.000000	0.71417	0.122000	0.21767	0.122000	0.20287	6.766000	0.74970	0.842000	0.35045	0.194000	0.17425	GAG		0.552	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1		XM_208213		14	129	0	0	0	0.003954	0	14	129		
NRD1	4898	broad.mit.edu	37	1	52283797	52283797	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:52283797G>C	ENST00000354831.7	-	12	1695	c.1506C>G	c.(1504-1506)atC>atG	p.I502M	NRD1_ENST00000539524.1_Missense_Mutation_p.I370M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.I434M|NRD1_ENST00000544028.1_Missense_Mutation_p.I302M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	433					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GAATTTTTCTGATTGGAACAA	0.323																																						uc001ctc.3		NaN																	0					0						c.(1504-1506)ATC>ATG		nardilysin isoform a							100.0	96.0	97.0					1																	52283797		2202	4300	6502	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52283797G>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1506C>G	1.37:g.52283797G>C	ENSP00000346890:p.Ile502Met					NRD1_uc009vzb.2_Missense_Mutation_p.I197M|NRD1_uc001ctd.3_Missense_Mutation_p.I434M|NRD1_uc001cte.2_Missense_Mutation_p.I370M|NRD1_uc001ctf.2_Missense_Mutation_p.I434M|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.I302M	p.I502M	NM_002525	NP_002516	O43847	NRDC_HUMAN			12	1828	-			433					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1506C>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456884	0.43634	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.45	1.47	0.22746	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.048198	0.85682	D	0.000000	T	0.19446	0.0467	M	0.73962	2.25	0.42354	D	0.992382	D;D;D	0.62365	0.988;0.991;0.991	P;P;P	0.62298	0.888;0.9;0.9	T	0.01051	-1.1468	10	0.87932	D	0	-10.2955	4.781	0.13202	0.2874:0.0:0.5727:0.1399	.	434;433;502	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	434;502;370;434;302	ENSP00000262679:I434M;ENSP00000346890:I502M;ENSP00000444416:I370M;ENSP00000442262:I302M	ENSP00000262679:I434M	I	-	3	3	NRD1	52056385	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.324000	0.19610	0.273000	0.22049	0.655000	0.94253	ATC		0.323	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525		6	31	0	0	0	0.00308	0	6	31		
USP24	23358	broad.mit.edu	37	1	55595217	55595217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:55595217C>T	ENST00000294383.6	-	32	3567	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N	USP24_ENST00000407756.1_Missense_Mutation_p.D1030N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1190					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATGTCATCATCAGCTGTTGGC	0.398																																						uc001cyg.3		NaN																	0				ovary(6)|kidney(6)|breast(1)	13						c.(3088-3090)GAT>AAT		ubiquitin specific protease 24							95.0	95.0	95.0					1																	55595217		1909	4131	6040	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55595217C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3568G>A	1.37:g.55595217C>T	ENSP00000294383:p.Asp1190Asn						p.D1030N	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			29	3088	-			1190					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.3088G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866388	0.91511	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.19938	2.11;2.11	5.78	5.78	0.91487	.	0.045054	0.85682	N	0.000000	T	0.22126	0.0533	L	0.34521	1.04	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.01276	-1.1398	10	0.18710	T	0.47	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	1030	B7WPF4	.	N	1190;1030	ENSP00000294383:D1190N;ENSP00000385700:D1030N	ENSP00000294383:D1190N	D	-	1	0	USP24	55367805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.733000	0.93635	0.591000	0.81541	GAT		0.398	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2				9	60	0	0	0	0.004482	0	9	60		
RAVER2	55225	broad.mit.edu	37	1	65243754	65243754	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:65243754C>T	ENST00000294428.3	+	3	843	c.765C>T	c.(763-765)gtC>gtT	p.V255V	RAVER2_ENST00000430964.2_5'UTR|RAVER2_ENST00000371072.4_Silent_p.V255V			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTCCAGTGTCCATAAACCTG	0.318																																						uc001dbs.1		NaN																	0				large_intestine(1)	1						c.(763-765)GTC>GTT		ribonucleoprotein, PTB-binding 2							80.0	70.0	73.0					1																	65243754		1809	4065	5874	SO:0001819	synonymous_variant	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65243754C>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.765C>T	1.37:g.65243754C>T						RAVER2_uc001dbt.1_Silent_p.V134V|RAVER2_uc010opb.1_Silent_p.V134V	p.V255V	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			3	843	+			255			RRM 3.		Q6P141|Q9NPV7	Silent	SNP	ENST00000294428.3	37	c.765C>T																																																																																					0.318	RAVER2-201	KNOWN	basic	protein_coding	protein_coding			NM_018211		22	49	0	0	0	0.00333	0	22	49		
MIER1	57708	broad.mit.edu	37	1	67436578	67436578	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:67436578G>A	ENST00000355356.3	+	8	850	c.701G>A	c.(700-702)aGa>aAa	p.R234K	MIER1_ENST00000401041.1_Missense_Mutation_p.R287K|MIER1_ENST00000355977.6_Missense_Mutation_p.R171K|MIER1_ENST00000357692.2_Missense_Mutation_p.R251K|MIER1_ENST00000401042.3_Missense_Mutation_p.R234K|MIER1_ENST00000371016.1_Missense_Mutation_p.R251K|MIER1_ENST00000371014.1_Missense_Mutation_p.R287K|MIER1_ENST00000371018.3_Missense_Mutation_p.R251K	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	234	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GCATCTAGAAGAACAGGTGAT	0.358																																						uc001dde.2		NaN																	0				ovary(1)	1						c.(859-861)AGA>AAA		mesoderm induction early response 1 isoform b							105.0	100.0	102.0					1																	67436578		1848	4109	5957	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67436578G>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.701G>A	1.37:g.67436578G>A	ENSP00000347514:p.Arg234Lys					MIER1_uc010opf.1_Missense_Mutation_p.R251K|MIER1_uc009way.2_Missense_Mutation_p.R251K|MIER1_uc001ddc.2_Missense_Mutation_p.R287K|MIER1_uc001ddh.2_Missense_Mutation_p.R171K|MIER1_uc001ddf.2_Missense_Mutation_p.R251K|MIER1_uc001ddg.2_Missense_Mutation_p.R207K|MIER1_uc010opg.1_Missense_Mutation_p.R251K|MIER1_uc001ddj.1_Missense_Mutation_p.R234K|MIER1_uc001ddi.2_Missense_Mutation_p.R234K	p.R287K	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN			9	994	+			258			ELM2.|Interaction with HDAC1.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.860G>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570168	0.96540	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.52	5.52	0.82312	ELM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.77313	2.365	0.49915	D	0.99983	P;D;D;D;D;D;D;P;D	0.69078	0.588;0.997;0.996;0.974;0.979;0.997;0.996;0.943;0.974	P;D;D;D;D;D;D;P;P	0.79108	0.559;0.992;0.987;0.969;0.982;0.992;0.987;0.81;0.879	T	0.61148	-0.7121	10	0.36615	T	0.2	-40.1389	19.4162	0.94700	0.0:0.0:1.0:0.0	.	251;251;234;234;171;258;251;287;287	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	255;251;171;251;287;251;287;234;234	ENSP00000360057:R251K;ENSP00000348253:R171K;ENSP00000350321:R251K;ENSP00000383820:R287K;ENSP00000360055:R251K;ENSP00000360053:R287K;ENSP00000383821:R234K;ENSP00000347514:R234K	ENSP00000347514:R234K	R	+	2	0	MIER1	67209166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.447000	0.97595	2.764000	0.94973	0.650000	0.86243	AGA		0.358	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2		NM_020948		16	61	0	0	0	0.003163	0	16	61		
PIGK	10026	broad.mit.edu	37	1	77627290	77627290	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:77627290C>G	ENST00000370812.3	-	7	714	c.691G>C	c.(691-693)Gat>Cat	p.D231H	PIGK_ENST00000445065.1_Missense_Mutation_p.D137H|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.D155H|PIGK_ENST00000359130.1_Missense_Mutation_p.D231H	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	231					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GAGAGTGAATCTTCTCCCACT	0.368																																						uc001dhk.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(691-693)GAT>CAT		phosphatidylinositol glycan anchor biosynthesis,							113.0	102.0	105.0					1																	77627290		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77627290C>G	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.691G>C	1.37:g.77627290C>G	ENSP00000359848:p.Asp231His					PIGK_uc010orj.1_Missense_Mutation_p.D155H|PIGK_uc009wbx.2_Missense_Mutation_p.D137H|PIGK_uc001dhl.1_Missense_Mutation_p.D231H	p.D231H	NM_005482	NP_005473	Q92643	GPI8_HUMAN			7	736	-			231			Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.691G>C	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194760	0.78902	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.47177	0.85;0.86;0.86;0.87	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.991;0.997	D;D;D;D	0.77557	0.99;0.984;0.965;0.976	T	0.76356	-0.2989	10	0.66056	D	0.02	-13.7537	17.6359	0.88122	0.0:1.0:0.0:0.0	.	155;137;231;231	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	H	231;137;155;231	ENSP00000359848:D231H;ENSP00000388854:D137H;ENSP00000359849:D155H;ENSP00000352041:D231H	ENSP00000352041:D231H	D	-	1	0	PIGK	77399878	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.273000	0.78527	2.454000	0.82982	0.650000	0.86243	GAT		0.368	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1		NM_005482		14	65	0	0	0	0.00245	0	14	65		
LPHN2	23266	broad.mit.edu	37	1	82409390	82409390	+	Missense_Mutation	SNP	G	G	A	rs538062733		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:82409390G>A	ENST00000370728.1	+	8	1780	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	LPHN2_ENST00000370725.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370717.2_Missense_Mutation_p.V379M|LPHN2_ENST00000370721.1_Missense_Mutation_p.V383M|LPHN2_ENST00000319517.6_Missense_Mutation_p.V379M|LPHN2_ENST00000359929.3_Missense_Mutation_p.V379M|LPHN2_ENST00000370730.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370715.1_Missense_Mutation_p.V379M|LPHN2_ENST00000335786.5_Missense_Mutation_p.V379M|LPHN2_ENST00000394879.1_Missense_Mutation_p.V379M|LPHN2_ENST00000370723.1_Missense_Mutation_p.V379M|LPHN2_ENST00000271029.4_Missense_Mutation_p.V379M|LPHN2_ENST00000370713.1_Missense_Mutation_p.V379M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.V379M			O95490	LPHN2_HUMAN	latrophilin 2	379	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAACTTTACGTGTGGAACAA	0.408																																						uc001dit.3		NaN																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1135-1137)GTG>ATG		latrophilin 2 precursor							122.0	115.0	118.0					1																	82409390		2203	4299	6502	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409390G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1135G>A	1.37:g.82409390G>A	ENSP00000359763:p.Val379Met					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.V379M|LPHN2_uc001div.2_Missense_Mutation_p.V379M|LPHN2_uc009wcd.2_Missense_Mutation_p.V379M	p.V379M	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	1316	+			379			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1135G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.109806	0.94292	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92344	0.5884	10	0.45353	T	0.12	.	19.4846	0.95024	0.0:0.0:1.0:0.0	.	379;379;379	O95490-3;O95490-4;O95490-2	.;.;.	M	383;379;379;379;379;379;379;379;379;379;379;379;379;379	ENSP00000359756:V383M;ENSP00000359763:V379M;ENSP00000359765:V379M;ENSP00000359762:V379M;ENSP00000359760:V379M;ENSP00000359758:V379M;ENSP00000353006:V379M;ENSP00000359750:V379M;ENSP00000359748:V379M;ENSP00000322270:V379M;ENSP00000359752:V379M;ENSP00000378344:V379M;ENSP00000271029:V379M;ENSP00000337306:V379M	ENSP00000271029:V379M	V	+	1	0	LPHN2	82181978	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.392000	0.97252	2.589000	0.87451	0.557000	0.71058	GTG		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		24	91	0	0	0	0.00278	0	24	91		
RBMXL1	494115	broad.mit.edu	37	1	89449287	89449287	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89449287C>A	ENST00000321792.5	-	2	650	c.223G>T	c.(223-225)Gat>Tat	p.D75Y	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.D75Y|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	75	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCTTTTCCATCTAATGACTTT	0.478											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wcx.2		NaN																	0					0						c.(223-225)GAT>TAT		RNA binding motif protein, X-linked-like 1							132.0	129.0	130.0					1																	89449287		2203	4297	6500	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449287C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.223G>T	1.37:g.89449287C>A	ENSP00000318415:p.Asp75Tyr		OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.D75Y	p.D75Y	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	939	-			75			RRM.			Missense_Mutation	SNP	ENST00000321792.5	37	c.223G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385607	0.82792	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.93019	-3.15;-3.15	1.59	1.59	0.23543	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.91140	0.7210	M	0.61703	1.905	0.50813	D	0.999893	P	0.46064	0.872	P	0.53988	0.739	D	0.90179	0.4241	10	0.87932	D	0	-7.0328	6.5804	0.22591	0.0:1.0:0.0:0.0	.	75	Q96E39	RBMXL_HUMAN	Y	75	ENSP00000318415:D75Y;ENSP00000446099:D75Y	ENSP00000318415:D75Y	D	-	1	0	RBMXL1	89221875	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	4.925000	0.63425	0.884000	0.36064	0.306000	0.20318	GAT		0.478	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3		NM_019610		53	169	1	0	2.48254e-18	0.00361	3.14135e-18	53	169		
GBP3	2635	broad.mit.edu	37	1	89486323	89486323	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:89486323G>T	ENST00000370481.4	-	2	302	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	GBP3_ENST00000475853.2_5'UTR|Y_RNA_ENST00000365515.1_RNA	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGGATTTTCAGAGCTTCTGGA	0.517																																						uc001dmt.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(82-84)CTG>ATG		guanylate binding protein 3							133.0	125.0	128.0					1																	89486323		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89486323G>T	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.82C>A	1.37:g.89486323G>T	ENSP00000359512:p.Leu28Met					GBP3_uc010oss.1_Translation_Start_Site|GBP3_uc001dmu.2_Translation_Start_Site|GBP3_uc001dmv.2_RNA	p.L28M	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	287	-		Lung NSC(277;0.123)	28			Helical; (Potential).		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.82C>A	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172554	0.38315	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	D;D	0.81908	-1.55;-1.55	3.04	-6.08	0.02151	Guanylate-binding protein, N-terminal (1);	0.246557	0.26812	N	0.022363	D	0.86205	0.5877	H	0.95745	3.715	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.82186	-0.0582	10	0.72032	D	0.01	.	6.6613	0.23016	0.6253:0.0:0.2432:0.1315	.	28	Q9H0R5	GBP3_HUMAN	M	28	ENSP00000359512:L28M;ENSP00000235878:L28M	ENSP00000235878:L28M	L	-	1	2	GBP3	89258911	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.974000	0.03794	-2.105000	0.00842	-0.507000	0.04495	CTG		0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3		NM_018284		37	106	1	0	6.05902e-23	0.003755	7.72123e-23	37	106		
TGFBR3	7049	broad.mit.edu	37	1	92184913	92184913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:92184913G>A	ENST00000525962.1	-	9	1583	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	TGFBR3_ENST00000212355.4_Missense_Mutation_p.R508W|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R507W			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	508	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACCGGGGCCGAGTACCGCAG	0.547																																						uc001doh.2		NaN																	0				ovary(3)	3						c.(1522-1524)CGG>TGG		transforming growth factor, beta receptor III							113.0	105.0	108.0					1																	92184913		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92184913G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1522C>T	1.37:g.92184913G>A	ENSP00000436127:p.Arg508Trp					TGFBR3_uc009wde.2_Missense_Mutation_p.R285W|TGFBR3_uc010osy.1_Missense_Mutation_p.R466W|TGFBR3_uc001doi.2_Missense_Mutation_p.R507W|TGFBR3_uc001doj.2_Missense_Mutation_p.R507W	p.R508W	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	10	1988	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	508			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1522C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027182	0.35797	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.88	-0.878	0.10617	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.700785	0.14313	N	0.327533	T	0.76615	0.4012	L	0.60455	1.87	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.60173	0.87;0.855;0.87	T	0.67039	-0.5771	10	0.66056	D	0.02	-1.9804	5.0787	0.14646	0.1956:0.0:0.4664:0.3379	.	508;507;508	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	W	508;507;508;507	ENSP00000212355:R508W;ENSP00000359426:R507W;ENSP00000436127:R508W;ENSP00000432638:R507W	ENSP00000212355:R508W	R	-	1	2	TGFBR3	91957501	0.053000	0.20554	0.003000	0.11579	0.189000	0.23516	0.993000	0.29680	-0.105000	0.12132	0.557000	0.71058	CGG		0.547	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		35	62	0	0	0	0.002836	0	35	62		
EVI5	7813	broad.mit.edu	37	1	93091443	93091443	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:93091443C>T	ENST00000370331.1	-	13	1537	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.E521K|EVI5_ENST00000540033.1_Missense_Mutation_p.E510K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	510	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCAATGAGTTCTTCCTGAAGC	0.338																																						uc001dox.2		NaN																	0				ovary(1)|breast(1)	2						c.(1528-1530)GAA>AAA		ecotropic viral integration site 5							119.0	114.0	116.0					1																	93091443		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93091443C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1528G>A	1.37:g.93091443C>T	ENSP00000359356:p.Glu510Lys					EVI5_uc010otf.1_Missense_Mutation_p.E521K|EVI5_uc001doy.1_RNA	p.E510K	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	13	1538	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	510			Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.1528G>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431212	0.96150	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.35048	1.33;1.33;1.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.58042	-0.7706	10	0.59425	D	0.04	-16.5451	19.9596	0.97236	0.0:1.0:0.0:0.0	.	521;510	F5H4R0;O60447	.;EVI5_HUMAN	K	510;510;521;209	ENSP00000359356:E510K;ENSP00000440826:E510K;ENSP00000445019:E521K	ENSP00000345500:E209K	E	-	1	0	EVI5	92864031	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.487000	0.81328	2.723000	0.93209	0.585000	0.79938	GAA		0.338	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665		31	46	0	0	0	0.001786	0	31	46		
ARHGAP29	9411	broad.mit.edu	37	1	94655506	94655506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:94655506G>A	ENST00000260526.6	-	13	1597	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	472					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.S472L(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTTCAGTTGAATTTGTGGC	0.368																																						uc001dqj.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(1414-1416)TCA>TTA		PTPL1-associated RhoGAP 1							83.0	82.0	82.0					1																	94655506		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94655506G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1415C>T	1.37:g.94655506G>A	ENSP00000260526:p.Ser472Leu					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.S38L	p.S472L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	13	1784	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	472					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1415C>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396198	0.25205	.	.	ENSG00000137962	ENST00000260526	T	0.47528	0.84	6.16	5.25	0.73442	.	0.275442	0.19640	N	0.109469	T	0.16214	0.0390	N	0.26042	0.785	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.12066	-1.0562	10	0.25106	T	0.35	-5.3197	5.9814	0.19409	0.2415:0.0:0.7585:0.0	.	472;472	F8VWZ8;Q52LW3	.;RHG29_HUMAN	L	472	ENSP00000260526:S472L	ENSP00000260526:S472L	S	-	2	0	ARHGAP29	94428094	0.986000	0.35501	0.980000	0.43619	0.902000	0.53008	2.954000	0.49113	2.937000	0.99478	0.650000	0.86243	TCA		0.368	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2		NM_004815		12	60	0	0	0	0.000978	0	12	60		
SLC30A7	148867	broad.mit.edu	37	1	101387384	101387384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:101387384C>G	ENST00000370112.4	+	8	1016	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	SLC30A7_ENST00000357650.4_Missense_Mutation_p.L277V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	277					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TATAGCCATTCTTATAGTTGT	0.303																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2		NaN																	0					0						c.(829-831)CTT>GTT		zinc transporter like 2							141.0	134.0	136.0					1																	101387384		2202	4300	6502	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101387384C>G	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.829C>G	1.37:g.101387384C>G	ENSP00000359130:p.Leu277Val					SLC30A7_uc001dto.2_Missense_Mutation_p.L277V	p.L277V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	8	1016	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	277			Helical; (Potential).		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.829C>G	CCDS776.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223587	0.79576	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.63744	-0.06;-0.06	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.77172	-0.2685	10	0.59425	D	0.04	-10.2332	19.6468	0.95779	0.0:1.0:0.0:0.0	.	277	Q8NEW0	ZNT7_HUMAN	V	277	ENSP00000359130:L277V;ENSP00000350278:L277V	ENSP00000350278:L277V	L	+	1	0	SLC30A7	101159972	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.637000	0.67854	2.639000	0.89480	0.655000	0.94253	CTT		0.303	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1		NM_133496		13	80	0	0	0	0.001855	0	13	80		
COL11A1	1301	broad.mit.edu	37	1	103478004	103478004	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:103478004C>T	ENST00000370096.3	-	14	1906	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	COL11A1_ENST00000353414.4_Missense_Mutation_p.G493S|COL11A1_ENST00000358392.2_Missense_Mutation_p.G544S|COL11A1_ENST00000512756.1_Missense_Mutation_p.G416S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	532	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCATTGGGCCAGGTGGGCCT	0.388																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1594-1596)GGC>AGC		alpha 1 type XI collagen isoform A							40.0	42.0	41.0					1																	103478004		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103478004C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1594G>A	1.37:g.103478004C>T	ENSP00000359114:p.Gly532Ser					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G544S|COL11A1_uc001dun.2_Missense_Mutation_p.G493S|COL11A1_uc009weh.2_Missense_Mutation_p.G416S	p.G532S	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	14	1912	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	532			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1594G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786633	0.90367	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-3.92	5.94	5.94	0.96194	.	0.054058	0.85682	D	0.000000	D	0.99664	0.9875	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.98036	1.0379	10	0.87932	D	0	.	19.9503	0.97197	0.0:1.0:0.0:0.0	.	416;493;544;532	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	532;544;493;416;544	ENSP00000359114:G532S;ENSP00000351163:G544S;ENSP00000302551:G493S;ENSP00000426533:G416S;ENSP00000408640:G544S	ENSP00000302551:G493S	G	-	1	0	COL11A1	103250592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.812000	0.96745	0.557000	0.71058	GGC		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		9	24	0	0	0	0.008291	0	9	24		
EPS8L3	79574	broad.mit.edu	37	1	110301959	110301959	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:110301959C>T	ENST00000361965.4	-	5	412	c.306G>A	c.(304-306)gcG>gcA	p.A102A	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Silent_p.A102A|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.A102A	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	102						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ATGTGTTGAGCGCCACATTCA	0.607																																						uc001dyr.1		NaN																	0				ovary(2)|skin(1)	3						c.(304-306)GCG>GCA		epidermal growth factor receptor pathway							173.0	170.0	171.0					1																	110301959		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110301959C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.306G>A	1.37:g.110301959C>T						EPS8L3_uc001dys.1_Silent_p.A102A|EPS8L3_uc001dyq.1_Silent_p.A102A|EPS8L3_uc009wfm.1_Silent_p.A68A|EPS8L3_uc009wfn.1_Silent_p.A68A|EPS8L3_uc009wfo.1_Silent_p.A49A	p.A102A	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	5	451	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	102					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.306G>A	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1		NM_024526		68	144	0	0	0	0.00361	0	68	144		
CHIA	27159	broad.mit.edu	37	1	111854934	111854934	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:111854934G>A	ENST00000369740.1	+	4	281	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	CHIA_ENST00000343320.6_Missense_Mutation_p.G60R|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	60					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGCCTTTGCTGGGAGGCAGAA	0.522																																						uc001eas.2		NaN																	0				ovary(1)	1						c.(178-180)GGG>AGG		acidic chitinase isoform c							122.0	119.0	120.0					1																	111854934		2025	4189	6214	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854934G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.178G>A	1.37:g.111854934G>A	ENSP00000358755:p.Gly60Arg					CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.G60R	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	281	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	60					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.178G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612044	0.46631	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.05996	3.36;3.36	4.93	3.94	0.45596	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000009	T	0.24005	0.0581	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06092	-1.0846	10	0.62326	D	0.03	-16.061	12.0376	0.53433	0.0:0.0:0.8269:0.1731	.	60	Q9BZP6	CHIA_HUMAN	R	60	ENSP00000358755:G60R;ENSP00000341828:G60R	ENSP00000341828:G60R	G	+	1	0	CHIA	111656457	0.005000	0.15991	1.000000	0.80357	0.434000	0.31775	1.175000	0.31944	2.429000	0.82318	0.655000	0.94253	GGG		0.522	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1				14	119	0	0	0	0.00245	0	14	119		
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	C	rs368560972		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:112309338G>C	ENST00000369702.4	+	11	2912	c.2292G>C	c.(2290-2292)ctG>ctC	p.L764L	DDX20_ENST00000475700.1_Silent_p.L372L	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(2290-2292)CTG>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							105.0	104.0	104.0					1																	112309338		2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309338G>C	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2292G>C	1.37:g.112309338G>C						DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L	p.L764L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2649	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	764					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.2292G>C	CCDS842.1																																																																																				0.453	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		5	55	0	0	0	0.001984	0	5	55		
ST7L	54879	broad.mit.edu	37	1	113159453	113159453	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:113159453C>T	ENST00000358039.4	-	2	574	c.270G>A	c.(268-270)ttG>ttA	p.L90L	ST7L_ENST00000543570.1_Silent_p.L73L|ST7L_ENST00000343210.7_Silent_p.L90L|ST7L_ENST00000360743.4_Silent_p.L90L|ST7L_ENST00000369666.1_Silent_p.L73L|ST7L_ENST00000490067.1_Silent_p.L73L|ST7L_ENST00000538187.1_Silent_p.L34L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Silent_p.L90L|ST7L_ENST00000369669.1_5'UTR|CAPZA1_ENST00000263168.3_5'Flank|ST7L_ENST00000544629.1_Silent_p.L90L	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	90					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTGATATCAATGAAGAGG	0.299																																						uc001ecd.2		NaN																	0					0						c.(268-270)TTG>TTA		suppression of tumorigenicity 7-like isoform 1							103.0	112.0	109.0					1																	113159453		2203	4300	6503	SO:0001819	synonymous_variant	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113159453C>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.270G>A	1.37:g.113159453C>T						ST7L_uc001ecc.2_5'UTR|ST7L_uc010owg.1_Silent_p.L90L|ST7L_uc010owh.1_Silent_p.L90L|ST7L_uc001ece.2_Silent_p.L90L|ST7L_uc001ecf.2_Silent_p.L73L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Silent_p.L25L|ST7L_uc001ech.2_Silent_p.L73L|ST7L_uc001eci.2_Silent_p.L90L|ST7L_uc009wgi.1_Intron|ST7L_uc010owj.1_Silent_p.L73L|CAPZA1_uc001ecj.1_5'Flank	p.L90L	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	575	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	90			Helical; (Potential).		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Silent	SNP	ENST00000358039.4	37	c.270G>A	CCDS848.1																																																																																				0.299	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3				10	105	0	0	0	0.000978	0	10	105		
AMPD1	270	broad.mit.edu	37	1	115236063	115236063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:115236063C>A	ENST00000520113.2	-	2	142	c.127G>T	c.(127-129)Gag>Tag	p.E43*	AMPD1_ENST00000369538.3_Intron|AMPD1_ENST00000353928.6_Nonsense_Mutation_p.E10*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	43					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACGTTTCTCTTCAGCTGTA	0.323																																						uc001efe.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(28-30)GAG>TAG		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						84.0	89.0	87.0					1																	115236063		2203	4299	6502	SO:0001587	stop_gained	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115236063C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.127G>T	1.37:g.115236063C>A	ENSP00000430075:p.Glu43*					AMPD1_uc001eff.1_Intron	p.E10*	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	112	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	10					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	c.28G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	35	5.503520	0.96371	.	.	ENSG00000116748	ENST00000520113;ENST00000353928	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	10.8554	0.46796	0.0:0.9104:0.0:0.0896	.	.	.	.	X	43;10	.	ENSP00000316520:E10X	E	-	1	0	AMPD1	115037586	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	2.173000	0.42472	2.417000	0.82017	0.650000	0.86243	GAG		0.323	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4				22	75	1	0	1.64293e-13	0.00333	2.05545e-13	22	75		
ATP1A1	476	broad.mit.edu	37	1	116935566	116935566	+	Missense_Mutation	SNP	G	G	A	rs148719009		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:116935566G>A	ENST00000295598.5	+	11	1675	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	ATP1A1_ENST00000369496.4_Missense_Mutation_p.A444T|ATP1A1_ENST00000537345.1_Missense_Mutation_p.A475T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	475				A -> T (in Ref. 13; CAA27390). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGAAAGATACGCCAAAATCGT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		18588	0.0		0.0	False		,,,				2504	0.001					uc001ege.2		NaN																	0				ovary(1)	1						c.(1423-1425)GCC>ACC		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	189.0	158.0	169.0		1423,1423,1330	-6.9	0.0	1	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATP1A1	NM_000701.7,NM_001160233.1,NM_001160234.1	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	475/1024,475/1024,444/993	116935566	1,13005	2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116935566G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1423G>A	1.37:g.116935566G>A	ENSP00000295598:p.Ala475Thr					ATP1A1_uc010owv.1_Missense_Mutation_p.A444T|ATP1A1_uc010oww.1_Missense_Mutation_p.A475T|ATP1A1_uc010owx.1_Missense_Mutation_p.A444T|C1orf203_uc009whb.2_RNA	p.A475T	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	11	1762	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	475	A -> T (in Ref. 12; CAA27390).		Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.1423G>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568945	0.28003	0.0	1.16E-4	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.78481	-1.18;-1.18;-1.18	5.28	-6.86	0.01676	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.090160	0.06829	N	0.793698	T	0.26919	0.0659	N	0.02334	-0.595	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32929	-0.9888	10	0.41790	T	0.15	.	9.7303	0.40357	0.492:0.3524:0.1556:0.0	.	475;475	F5H3A1;P05023	.;AT1A1_HUMAN	T	475;475;474;444	ENSP00000295598:A475T;ENSP00000445306:A475T;ENSP00000358508:A444T	ENSP00000295598:A475T	A	+	1	0	ATP1A1	116737089	0.000000	0.05858	0.002000	0.10522	0.473000	0.32948	-3.945000	0.00328	-1.727000	0.01368	-0.119000	0.15052	GCC		0.537	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		14	109	0	0	0	0.003163	0	14	109		
NOTCH2	4853	broad.mit.edu	37	1	120461054	120461054	+	Silent	SNP	C	C	T	rs149442704		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:120461054C>T	ENST00000256646.2	-	32	6123	c.5904G>A	c.(5902-5904)gcG>gcA	p.A1968A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1968					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCACATCCGCTTGGCAGT	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		20122	0.0		0.0	False		,,,				2504	0.0					uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5902-5904)GCG>GCA		notch 2 preproprotein		C		1,4405	2.1+/-5.4	0,1,2202	138.0	109.0	119.0		5904	-10.0	0.7	1	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	NOTCH2	NM_024408.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1968/2472	120461054	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120461054C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5904G>A	1.37:g.120461054C>T							p.A1968A	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	32	6160	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1968			Cytoplasmic (Potential).|ANK 4.		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.5904G>A	CCDS908.1																																																																																				0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		11	104	0	0	0	0.001368	0	11	104		
NBPF10	100132406	broad.mit.edu	37	1	145293519	145293519	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145293519C>G	ENST00000369339.3	+	3	367	c.114C>G	c.(112-114)ctC>ctG	p.L38L	NBPF10_ENST00000342960.5_Silent_p.L38L|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	309						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCAGAAACCTCAAAGAGAAAT	0.473																																						uc001end.3		NaN																	0					0						c.(112-114)CTC>CTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293519C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.114C>G	1.37:g.145293519C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L38L|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Silent_p.L38L	p.L38L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	149	+	all_hematologic(923;0.032)		38					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.114C>G																																																																																					0.473	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		NM_001039703		49	568	0	0	0	0.00361	0	49	568		
TXNIP	10628	broad.mit.edu	37	1	145440314	145440314	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145440314G>T	ENST00000369317.4	+	5	954	c.620G>T	c.(619-621)cGa>cTa	p.R207L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	207					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATGTTCCCGAATTGTGGTC	0.453																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(619-621)CGA>CTA		thioredoxin interacting protein							95.0	96.0	96.0					1																	145440314		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440314G>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.620G>T	1.37:g.145440314G>T	ENSP00000358323:p.Arg207Leu					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R152L	p.R207L	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	961	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		207					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.620G>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038004	0.93630	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.16073	2.37;2.37	5.69	5.69	0.88448	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.061173	0.64402	D	0.000005	T	0.33556	0.0867	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.96	D;P	0.72075	0.976;0.82	T	0.01496	-1.1340	10	0.46703	T	0.11	-4.2645	17.3154	0.87222	0.0:0.0:1.0:0.0	.	152;207	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	L	207;152	ENSP00000358323:R207L;ENSP00000396322:R152L	ENSP00000358323:R207L	R	+	2	0	TXNIP	144151671	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.371000	0.97162	2.696000	0.92011	0.651000	0.88453	CGA		0.453	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		40	84	1	0	1.43246e-33	0.007835	1.83193e-33	40	84		
ANKRD34A	284615	broad.mit.edu	37	1	145473774	145473774	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:145473774C>T	ENST00000323397.4	+	4	1739	c.446C>T	c.(445-447)tCg>tTg	p.S149L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	149						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGATACCTCGCCCTCAGGC	0.652																																						uc001enq.1		NaN																	0					0						c.(445-447)TCG>TTG		ankyrin repeat domain 34							59.0	53.0	55.0					1																	145473774		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473774C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.446C>T	1.37:g.145473774C>T	ENSP00000314103:p.Ser149Leu					NBPF10_uc001emp.3_Intron	p.S149L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1739	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		149					B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.446C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766260	0.49574	.	.	ENSG00000181039	ENST00000323397	T	0.75260	-0.92	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	L	0.52905	1.665	0.58432	D	0.999991	D	0.89917	1.0	D	0.74023	0.982	T	0.78091	-0.2339	10	0.42905	T	0.14	-10.8688	16.1	0.81166	0.0:1.0:0.0:0.0	.	149	Q69YU3	AN34A_HUMAN	L	149	ENSP00000314103:S149L	ENSP00000314103:S149L	S	+	2	0	ANKRD34A	144185131	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.429000	0.80309	2.654000	0.90174	0.485000	0.47835	TCG		0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1				11	47	0	0	0	0.008291	0	11	47		
BCL9	607	broad.mit.edu	37	1	147096327	147096327	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:147096327G>A	ENST00000234739.3	+	10	4588	c.3848G>A	c.(3847-3849)aGa>aAa	p.R1283K		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1283	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCCCCAGAATGGGACTA	0.587			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(3847-3849)AGA>AAA		B-cell CLL/lymphoma 9							53.0	48.0	50.0					1																	147096327		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096327G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3848G>A	1.37:g.147096327G>A	ENSP00000234739:p.Arg1283Lys					BCL9_uc010ozr.1_Missense_Mutation_p.R1197K	p.R1283K	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	4588	+	all_hematologic(923;0.115)		1283			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3848G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302381	0.81136	.	.	ENSG00000116128	ENST00000234739	T	0.58506	0.33	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.43152	1.355	0.52099	D	0.999948	D;P	0.58970	0.984;0.956	D;P	0.65443	0.935;0.899	T	0.56938	-0.7896	10	0.31617	T	0.26	-13.3817	18.5344	0.91004	0.0:0.0:1.0:0.0	.	1283;1283	Q1JQ81;O00512	.;BCL9_HUMAN	K	1283	ENSP00000234739:R1283K	ENSP00000234739:R1283K	R	+	2	0	BCL9	145562951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.473000	0.97714	2.375000	0.81037	0.650000	0.86243	AGA		0.587	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		9	44	0	0	0	0.004482	0	9	44		
HIST2H2BE	8349	broad.mit.edu	37	1	149858021	149858021	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:149858021G>A	ENST00000369155.2	-	1	211	c.170C>T	c.(169-171)tCc>tTc	p.S57F	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	57					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATGGCCTTGGACGAGATGCC	0.587																																						uc001etc.2		NaN																	0				ovary(1)	1						c.(169-171)TCC>TTC		histone cluster 2, H2be							177.0	167.0	171.0					1																	149858021		2203	4297	6500	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858021G>A	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.170C>T	1.37:g.149858021G>A	ENSP00000358151:p.Ser57Phe					HIST2H2AC_uc001etd.2_5'Flank	p.S57F	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	212	-	Breast(34;0.0124)|all_hematologic(923;0.127)		57					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.170C>T	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971484	0.92919	.	.	ENSG00000184678	ENST00000369155	T	0.71817	-0.6	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	H	0.95679	3.705	0.47094	D	0.999311	D	0.89917	1.0	D	0.81914	0.995	D	0.90840	0.4723	10	0.87932	D	0	.	18.9081	0.92471	0.0:0.0:1.0:0.0	.	57	Q16778	H2B2E_HUMAN	F	57	ENSP00000358151:S57F	ENSP00000358151:S57F	S	-	2	0	HIST2H2BE	148124645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	2.810000	0.96702	0.586000	0.80456	TCC		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1		NM_003528		82	172	0	0	0	0.00361	0	82	172		
ANXA9	8416	broad.mit.edu	37	1	150960575	150960575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:150960575C>T	ENST00000368947.4	+	11	1182	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	236					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTTTGATCAGTACCAGCG	0.557																																						uc001ewa.2		NaN																	0					0						c.(706-708)CAG>TAG		annexin A9							98.0	100.0	99.0					1																	150960575		2203	4300	6503	SO:0001587	stop_gained	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150960575C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.706C>T	1.37:g.150960575C>T	ENSP00000357943:p.Gln236*						p.Q236*	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	1176	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		236			Annexin 3.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Nonsense_Mutation	SNP	ENST00000368947.4	37	c.706C>T	CCDS975.2	.	.	.	.	.	.	.	.	.	.	C	39	7.784606	0.98489	.	.	ENSG00000143412	ENST00000368947	.	.	.	5.31	4.36	0.52297	.	0.693692	0.13765	N	0.364309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.0457	0.53479	0.0:0.8272:0.1728:0.0	.	.	.	.	X	236	.	ENSP00000357943:Q236X	Q	+	1	0	ANXA9	149227199	0.059000	0.20769	0.993000	0.49108	0.961000	0.63080	0.923000	0.28757	2.495000	0.84180	0.655000	0.94253	CAG		0.557	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2		NM_003568		20	48	0	0	0	0.00333	0	20	48		
PI4KB	5298	broad.mit.edu	37	1	151261860	151261860	+	IGR	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151261860C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.I826I			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGGCTGATCTACAAGTGCG	0.622																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2476-2478)ATC>ATT		zinc finger protein 687							174.0	141.0	152.0					1																	151261860		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261860C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261860C>T						ZNF687_uc009wmo.2_Silent_p.I826I|ZNF687_uc009wmp.2_Silent_p.I826I	p.I826I	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	2576	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		826					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2478C>T		.	.	.	.	.	.	.	.	.	.	C	3.847	-0.032556	0.07543	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.13	4.21	0.49690	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61431	-0.7064	4	.	.	.	.	14.0305	0.64613	0.1525:0.8475:0.0:0.0	.	.	.	.	F	429	.	.	S	+	2	0	ZNF687	149528484	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	1.438000	0.35002	1.377000	0.46286	0.561000	0.74099	TCT		0.622	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		41	94	0	0	0	0.002852	0	41	94		
PI4KB	5298	broad.mit.edu	37	1	151262612	151262612	+	IGR	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262612C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F993L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAAAAGTTCCCCTGTCGCC	0.612																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2977-2979)TTC>TTA		zinc finger protein 687							119.0	110.0	113.0					1																	151262612		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262612C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262612C>A						ZNF687_uc009wmo.2_Missense_Mutation_p.F993L|ZNF687_uc009wmp.2_Missense_Mutation_p.F993L	p.F993L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3077	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		993			C2H2-type 8.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2979C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.64|18.64	3.667228|3.667228	0.67814|0.67814	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.15|5.15	-1.94|-1.94	0.07571|0.07571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);|.	0.000000|.	0.34828|.	U|.	0.003642|.	T|T	0.53400|0.53400	0.1794|0.1794	M|M	0.62723|0.62723	1.935|1.935	0.41919|0.41919	D|D	0.990503|0.990503	D;D|.	0.69078|.	0.997;0.996|.	D;P|.	0.66716|.	0.946;0.883|.	T|T	0.59252|0.59252	-0.7489|-0.7489	10|5	0.41790|.	T|.	0.15|.	.|.	13.5157|13.5157	0.61539|0.61539	0.0:0.6402:0.0:0.3598|0.0:0.6402:0.0:0.3598	.|.	993;993|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	L|Y	993|596	ENSP00000336620:F993L;ENSP00000319829:F993L;ENSP00000357874:F993L|.	ENSP00000319829:F993L|.	F|S	+|+	3|2	2|0	ZNF687|ZNF687	149529236|149529236	0.941000|0.941000	0.31946|0.31946	0.988000|0.988000	0.46212|0.46212	0.957000|0.957000	0.61999|0.61999	0.010000|0.010000	0.13242|0.13242	-0.496000|-0.496000	0.06650|0.06650	-0.516000|-0.516000	0.04426|0.04426	TTC|TCC		0.612	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		14	95	1	0	5.8336e-16	0.003271	7.33658e-16	14	95		
PI4KB	5298	broad.mit.edu	37	1	151262619	151262619	+	IGR	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262619C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.R996S			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCCTGTCGCCTGTGTGA	0.592																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2986-2988)CGC>AGC		zinc finger protein 687							118.0	109.0	112.0					1																	151262619		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262619C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262619C>A						ZNF687_uc009wmo.2_Missense_Mutation_p.R996S|ZNF687_uc009wmp.2_Missense_Mutation_p.R996S	p.R996S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3084	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		996			C2H2-type 8.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.2986C>A		.	.	.	.	.	.	.	.	.	.	C	17.52	3.409660	0.62399	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.26518	1.73;1.73;1.73	5.15	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.30293	U	0.009954	T	0.19725	0.0474	N	0.11341	0.13	0.43703	D	0.996162	D;D	0.89917	1.0;0.998	D;D	0.76071	0.987;0.952	T	0.06356	-1.0831	10	0.42905	T	0.14	.	12.6535	0.56774	0.1749:0.8251:0.0:0.0	.	996;996	Q8N1G0-2;Q8N1G0	.;ZN687_HUMAN	S	996	ENSP00000336620:R996S;ENSP00000319829:R996S;ENSP00000357874:R996S	ENSP00000319829:R996S	R	+	1	0	ZNF687	149529243	0.990000	0.36364	1.000000	0.80357	0.940000	0.58332	1.740000	0.38228	2.673000	0.90976	0.467000	0.42956	CGC		0.592	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		13	94	1	0	1.90571e-15	0.004289	2.39461e-15	13	94		
PI4KB	5298	broad.mit.edu	37	1	151262635	151262635	+	IGR	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262635C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.S1001F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGAGCGCTCCTTCTGCTCC	0.597																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(3001-3003)TCC>TTC		zinc finger protein 687							116.0	107.0	110.0					1																	151262635		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262635C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262635C>T						ZNF687_uc009wmo.2_Missense_Mutation_p.S1001F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1001F	p.S1001F	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3100	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1001			C2H2-type 8.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3002C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.436923|4.436923	0.83885|0.83885	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000426871|ENST00000336715;ENST00000324048;ENST00000368879	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	.|0.000000	.|0.33854	.|U	.|0.004487	T|T	0.49762|0.49762	0.1576|0.1576	M|M	0.76938|0.76938	2.355|2.355	0.53688|0.53688	D|D	0.999972|0.999972	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73380	.|0.98;0.956	T|T	0.52011|0.52011	-0.8632|-0.8632	5|10	.|0.62326	.|D	.|0.03	.|.	16.1557|16.1557	0.81666|0.81666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1001;1001	.|Q8N1G0-2;Q8N1G0	.|.;ZN687_HUMAN	S|F	604|1001	.|ENSP00000336620:S1001F;ENSP00000319829:S1001F;ENSP00000357874:S1001F	.|ENSP00000319829:S1001F	P|S	+|+	1|2	0|0	ZNF687|ZNF687	149529259|149529259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.469000|7.469000	0.80959|0.80959	2.673000|2.673000	0.90976|0.90976	0.467000|0.467000	0.42956|0.42956	CCT|TCC		0.597	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		13	95	0	0	0	0.003271	0	13	95		
PI4KB	5298	broad.mit.edu	37	1	151262637	151262637	+	IGR	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151262637T>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.F1002L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGCGCTCCTTCTGCTCCGC	0.592																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(3004-3006)TTC>CTC		zinc finger protein 687							114.0	105.0	108.0					1																	151262637		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262637T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262637T>C						ZNF687_uc009wmo.2_Missense_Mutation_p.F1002L|ZNF687_uc009wmp.2_Missense_Mutation_p.F1002L	p.F1002L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3102	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1002			C2H2-type 8.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3004T>C		.	.	.	.	.	.	.	.	.	.	T	29.6	5.022543	0.93462	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.42131	0.98;0.98;0.98	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.35320	U	0.003296	T	0.64768	0.2628	M	0.91459	3.21	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.74022	-0.3798	10	0.87932	D	0	-18.586	12.9652	0.58480	0.0:0.0:0.0:1.0	.	1002;1002	Q8N1G0-2;Q8N1G0	.;ZN687_HUMAN	L	1002	ENSP00000336620:F1002L;ENSP00000319829:F1002L;ENSP00000357874:F1002L	ENSP00000319829:F1002L	F	+	1	0	ZNF687	149529261	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.681000	0.84073	2.159000	0.67721	0.383000	0.25322	TTC		0.592	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		13	96	0	0	0	0.003755	0	13	96		
PI4KB	5298	broad.mit.edu	37	1	151263516	151263516	+	IGR	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:151263516C>G	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_3'UTR			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCTCCATCAAGGTCTGAC	0.617																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(3544-3546)TCA>TGA		zinc finger protein 687							62.0	65.0	64.0					1																	151263516		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151263516C>G	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263516C>G						ZNF687_uc009wmo.2_Nonsense_Mutation_p.S1182*|ZNF687_uc009wmp.2_3'UTR	p.S1182*	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	3643	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1182					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	ENST00000368873.1	37	c.3545C>G		.	.	.	.	.	.	.	.	.	.	C	46	12.911204	0.99705	.	.	ENSG00000143373	ENST00000336715;ENST00000324048	.	.	.	4.87	-0.59	0.11679	.	1.339420	0.05939	N	0.636677	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.8257	0.29313	0.0:0.4676:0.0:0.5324	.	.	.	.	X	1182	.	ENSP00000319829:S1182X	S	+	2	0	ZNF687	149530140	0.000000	0.05858	0.000000	0.03702	0.749000	0.42624	-0.228000	0.09114	-0.018000	0.14079	0.561000	0.74099	TCA		0.617	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		24	59	0	0	0	0.003954	0	24	59		
TCHHL1	126637	broad.mit.edu	37	1	152058710	152058710	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152058710C>T	ENST00000368806.1	-	3	1512	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	483							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCGTTTTTGCTGTTCACAAA	0.483																																						uc001ezo.1		NaN																	0				ovary(1)|skin(1)	2						c.(1447-1449)AGC>AAC		trichohyalin-like 1							252.0	220.0	231.0					1																	152058710		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058710C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1448G>A	1.37:g.152058710C>T	ENSP00000357796:p.Ser483Asn						p.S483N	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1513	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		483					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1448G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	8.561	0.877893	0.17395	.	.	ENSG00000182898	ENST00000368806	T	0.24350	1.86	5.32	-1.14	0.09741	.	0.920555	0.09091	N	0.849874	T	0.04452	0.0122	N	0.25890	0.77	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.43410	-0.9393	10	0.22109	T	0.4	1.1766	4.2758	0.10808	0.1572:0.394:0.0:0.4488	.	483	Q5QJ38	TCHL1_HUMAN	N	483	ENSP00000357796:S483N	ENSP00000357796:S483N	S	-	2	0	TCHHL1	150325334	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.420000	0.07062	-0.017000	0.14103	0.557000	0.71058	AGC		0.483	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104		98	225	0	0	0	0.00361	0	98	225		
LCE2B	26239	broad.mit.edu	37	1	152659594	152659594	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:152659594G>C	ENST00000368780.3	+	2	329	c.275G>C	c.(274-276)tGt>tCt	p.C92S	LCE2B_ENST00000417924.2_Missense_Mutation_p.C92S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	92	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGACTGCTGTGAGAGTGAA	0.632																																						uc001fai.2		NaN																	0				ovary(1)|skin(1)	2						c.(274-276)TGT>TCT		late cornified envelope 2B							36.0	48.0	44.0					1																	152659594		2200	4286	6486	SO:0001583	missense	26239				keratinization			g.chr1:152659594G>C	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.275G>C	1.37:g.152659594G>C	ENSP00000357769:p.Cys92Ser						p.C92S	NM_014357	NP_055172	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	329	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.275G>C	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	G	5.145	0.212372	0.09757	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.05139	3.49;3.49	2.46	1.46	0.22682	.	.	.	.	.	T	0.04003	0.0112	M	0.85197	2.74	0.09310	N	0.999992	B	0.27166	0.17	B	0.25140	0.058	T	0.27905	-1.0060	9	0.87932	D	0	.	6.8487	0.24003	0.0:0.2926:0.7074:0.0	.	92	O14633	LCE2B_HUMAN	S	92	ENSP00000414043:C92S;ENSP00000357769:C92S	ENSP00000357769:C92S	C	+	2	0	LCE2B	150926218	0.834000	0.29399	0.120000	0.21714	0.117000	0.20001	1.435000	0.34969	0.307000	0.22880	0.313000	0.20887	TGT		0.632	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1		NM_014357		35	108	0	0	0	0.003271	0	35	108		
ADAR	103	broad.mit.edu	37	1	154574803	154574803	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:154574803C>G	ENST00000368474.4	-	2	514	c.315G>C	c.(313-315)caG>caC	p.Q105H	ADAR_ENST00000292205.5_Missense_Mutation_p.Q148H|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	105					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGAACCCTCTCTGGAGCCCCT	0.557																																						uc001ffh.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(313-315)CAG>CAC		adenosine deaminase, RNA-specific isoform a							65.0	67.0	66.0					1																	154574803		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574803C>G	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.315G>C	1.37:g.154574803C>G	ENSP00000357459:p.Gln105His					ADAR_uc001ffj.2_Missense_Mutation_p.Q105H|ADAR_uc001ffi.2_Missense_Mutation_p.Q105H|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	p.Q105H	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	515	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		105					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.315G>C	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	2.710	-0.269011	0.05716	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.10573	2.87;2.89;2.86	4.56	-6.05	0.02172	.	1.871750	0.01998	N	0.046060	T	0.01421	0.0046	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.41556	-0.9502	10	0.12103	T	0.63	-0.3603	0.4203	0.00455	0.3315:0.2712:0.1703:0.2269	.	105;105;105	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	H	148;105;100	ENSP00000292205:Q148H;ENSP00000357459:Q105H;ENSP00000431794:Q100H	ENSP00000292205:Q148H	Q	-	3	2	ADAR	152841427	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.614000	0.05604	-1.400000	0.02061	-1.288000	0.01363	CAG		0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111		34	61	0	0	0	0.002836	0	34	61		
SLC50A1	55974	broad.mit.edu	37	1	155109406	155109406	+	Silent	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155109406T>C	ENST00000368404.4	+	3	323	c.261T>C	c.(259-261)taT>taC	p.Y87Y	SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000303343.8_Silent_p.Y87Y|SLC50A1_ENST00000484157.1_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	87	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCTTGGCATATCTGCATTACT	0.562																																						uc001fhj.3		NaN																	0					0						c.(259-261)TAT>TAC		recombination activating gene 1 activating							120.0	112.0	115.0					1																	155109406		2203	4300	6503	SO:0001819	synonymous_variant	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155109406T>C	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.261T>C	1.37:g.155109406T>C						RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Intron|RAG1AP1_uc001fhl.3_Silent_p.Y87Y	p.Y87Y	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	361	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		87			Helical; Name=3; (Potential).|MtN3/slv 1.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Silent	SNP	ENST00000368404.4	37	c.261T>C	CCDS1093.1																																																																																				0.562	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1		NM_018845		5	78	0	0	0	0.000602	0	5	78		
ASH1L	55870	broad.mit.edu	37	1	155313492	155313492	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155313492C>T	ENST00000368346.3	-	23	8677	c.8038G>A	c.(8038-8040)Gat>Aat	p.D2680N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2675N|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2680	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGTGGCCATCAGGGGTGCGC	0.438																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(8038-8040)GAT>AAT		absent, small, or homeotic 1-like							73.0	71.0	71.0					1																	155313492		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313492C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8038G>A	1.37:g.155313492C>T	ENSP00000357330:p.Asp2680Asn					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.D2675N	p.D2680N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		23	8518	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2680			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8038G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.540298	0.96474	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89196	-2.48;-2.48	4.78	4.78	0.61160	Bromo adjacent homology (BAH) domain (3);	0.050507	0.85682	D	0.000000	D	0.86736	0.6004	N	0.19112	0.55	0.80722	D	1	D;D	0.63046	0.992;0.99	P;P	0.59761	0.863;0.785	D	0.89291	0.3619	10	0.66056	D	0.02	.	17.5806	0.87966	0.0:1.0:0.0:0.0	.	2680;2675	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	2680;2675	ENSP00000357330:D2680N;ENSP00000376204:D2675N	ENSP00000357330:D2680N	D	-	1	0	ASH1L	153580116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.483000	0.83821	0.561000	0.74099	GAT		0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		7	64	0	0	0	0.001984	0	7	64		
GON4L	54856	broad.mit.edu	37	1	155796774	155796774	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:155796774G>A	ENST00000368331.1	-	3	599	c.551C>T	c.(550-552)tCa>tTa	p.S184L	GON4L_ENST00000271883.5_Missense_Mutation_p.S184L|GON4L_ENST00000437809.1_Missense_Mutation_p.S184L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S184L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	184					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGCTGCCTGATGGCAGGGA	0.473																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(550-552)TCA>TTA		gon-4-like isoform a							136.0	128.0	131.0					1																	155796774		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155796774G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.551C>T	1.37:g.155796774G>A	ENSP00000357315:p.Ser184Leu					GON4L_uc001fly.1_Missense_Mutation_p.S184L|GON4L_uc009wrh.1_Missense_Mutation_p.S184L|GON4L_uc001fma.1_Missense_Mutation_p.S184L|GON4L_uc001fmc.2_Missense_Mutation_p.S184L|GON4L_uc001fmd.3_Missense_Mutation_p.S184L|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.S12L	p.S184L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			3	648	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		184					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.551C>T		.	.	.	.	.	.	.	.	.	.	G	2.524	-0.310109	0.05458	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.13538	2.78;2.78;2.78;2.58	4.58	-2.24	0.06909	.	1.593530	0.04306	N	0.348059	T	0.02012	0.0063	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.0;0.001	T	0.44922	-0.9296	10	0.44086	T	0.13	.	4.3382	0.11097	0.496:0.0:0.3419:0.1621	.	184;184;184;184	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	184	ENSP00000396117:S184L;ENSP00000357315:S184L;ENSP00000271883:S184L;ENSP00000354322:S184L	ENSP00000271883:S184L	S	-	2	0	GON4L	154063398	0.000000	0.05858	0.003000	0.11579	0.180000	0.23129	-0.036000	0.12185	-0.278000	0.09180	0.491000	0.48974	TCA		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		13	72	0	0	0	0.001855	0	13	72		
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156126258G>C	ENST00000368285.3	+	3	460	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_ENST00000355014.2_Missense_Mutation_p.D65H|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.D65H|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542																																						uc001fnl.2		NaN																	0				ovary(1)|skin(1)	2						c.(193-195)GAC>CAC		semaphorin B precursor							115.0	98.0	104.0					1																	156126258		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156126258G>C	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.193G>C	1.37:g.156126258G>C	ENSP00000357268:p.Asp65His					SEMA4A_uc009wrq.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.2_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.D65H	p.D65H	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			3	297	+	Hepatocellular(266;0.158)		65			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.193G>C	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704119	0.68615	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.83	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.198080	0.43260	D	0.000585	T	0.22936	0.0554	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02075	-1.1218	10	0.32370	T	0.25	.	10.592	0.45314	0.0921:0.0:0.9079:0.0	.	65	Q9H3S1	SEM4A_HUMAN	H	65;65;65;27;27;65;65	ENSP00000401391:D65H;ENSP00000347117:D65H;ENSP00000357268:D65H;ENSP00000392865:D65H;ENSP00000357265:D65H	ENSP00000347117:D65H	D	+	1	0	SEMA4A	154392882	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.689000	0.54706	1.162000	0.42619	0.467000	0.42956	GAC		0.542	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		28	60	0	0	0	0.008361	0	28	60		
BCAN	63827	broad.mit.edu	37	1	156617443	156617443	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156617443G>C	ENST00000329117.5	+	4	946	c.610G>C	c.(610-612)Gat>Cat	p.D204H	BCAN_ENST00000361588.5_Missense_Mutation_p.D204H|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	204	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCAATGTGATGCTGGCTG	0.647																																						uc001fpp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(610-612)GAT>CAT		brevican isoform 1							81.0	84.0	83.0					1																	156617443		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617443G>C	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.610G>C	1.37:g.156617443G>C	ENSP00000331210:p.Asp204His					BCAN_uc001fpo.2_Missense_Mutation_p.D204H	p.D204H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	946	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		204			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.610G>C	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627694	0.87560	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	4.28	4.28	0.50868	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000014	T	0.33614	0.0869	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.34775	-0.9815	10	0.87932	D	0	-6.3661	15.4434	0.75208	0.0:0.0:1.0:0.0	.	204;204	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	204;204;102;204	ENSP00000331210:D204H;ENSP00000389898:D204H;ENSP00000401709:D102H;ENSP00000354925:D204H	ENSP00000331210:D204H	D	+	1	0	BCAN	154884067	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	GAT		0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948		17	122	0	0	0	0.007413	0	17	122		
ARHGEF11	9826	broad.mit.edu	37	1	156912573	156912573	+	Splice_Site	SNP	C	C	G	rs376561548		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:156912573C>G	ENST00000361409.2	-	32	3858		c.e32-1		ARHGEF11_ENST00000368194.3_Splice_Site|ARHGEF11_ENST00000487682.1_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCGTTTATCTGTGTGAGGA	0.542																																						uc001fqo.2		NaN																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.e32-1		Rho guanine nucleotide exchange factor (GEF) 11							161.0	130.0	141.0					1																	156912573		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156912573C>G	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3116-1G>C	1.37:g.156912573C>G						ARHGEF11_uc010phu.1_Splice_Site_p.D455_splice|ARHGEF11_uc001fqn.2_Splice_Site_p.D1079_splice	p.D1039_splice	NM_014784	NP_055599	O15085	ARHGB_HUMAN			32	4156	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	37	c.3116_splice	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130085	0.77549	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8856	0.88852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF11	155179197	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.447000	0.80620	2.547000	0.85894	0.655000	0.94253	.		0.542	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		NM_198236	Intron	38	54	0	0	0	0.006999	0	38	54		
FCRL5	83416	broad.mit.edu	37	1	157514314	157514314	+	Silent	SNP	C	C	T	rs112294248		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:157514314C>T	ENST00000361835.3	-	5	739	c.582G>A	c.(580-582)ctG>ctA	p.L194L	FCRL5_ENST00000356953.4_Silent_p.L194L|FCRL5_ENST00000368190.3_Silent_p.L194L|FCRL5_ENST00000368189.3_Silent_p.L194L|FCRL5_ENST00000368191.3_Silent_p.L109L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	194	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTGGCTCTCAGCACTGGAC	0.557																																						uc001fqu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(580-582)CTG>CTA		Fc receptor-like 5							88.0	86.0	87.0					1																	157514314		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514314C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.582G>A	1.37:g.157514314C>T						FCRL5_uc009wsm.2_Silent_p.L194L|FCRL5_uc010phv.1_Silent_p.L194L|FCRL5_uc010phw.1_Silent_p.L109L|FCRL5_uc001fqv.1_Silent_p.L194L|FCRL5_uc010phx.1_5'UTR	p.L194L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	740	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	194			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.582G>A	CCDS1165.1																																																																																				0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281		35	71	0	0	0	0.00623	0	35	71		
OR10J3	441911	broad.mit.edu	37	1	159284102	159284102	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:159284102G>A	ENST00000332217.5	-	1	347	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCATGACTGTGAGCAGGAAGC	0.507																																						uc010piu.1		NaN																	0				ovary(2)	2						c.(346-348)CTC>CTT		olfactory receptor, family 10, subfamily J,							100.0	97.0	98.0					1																	159284102		2203	4300	6503	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284102G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.348C>T	1.37:g.159284102G>A							p.L116L	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	348	-	all_hematologic(112;0.0429)		116			Helical; Name=3; (Potential).			Silent	SNP	ENST00000332217.5	37	c.348C>T	CCDS30909.1																																																																																				0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1				15	79	0	0	0	0.004007	0	15	79		
ATP1A4	480	broad.mit.edu	37	1	160136489	160136489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:160136489G>T	ENST00000368081.4	+	8	1690	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	407					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGTGTATGAGGCCGACAC	0.552																																						uc001fve.3		NaN																	0				ovary(2)|skin(2)	4						c.(1219-1221)GAG>TAG		Na+/K+ -ATPase alpha 4 subunit isoform 1							109.0	86.0	94.0					1																	160136489		2203	4300	6503	SO:0001587	stop_gained	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136489G>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1219G>T	1.37:g.160136489G>T	ENSP00000357060:p.Glu407*					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	p.E407*	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1698	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		407			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Nonsense_Mutation	SNP	ENST00000368081.4	37	c.1219G>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	40	8.510494	0.98843	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.35	1.38	0.22167	.	0.158777	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.901	0.09161	0.2963:0.1806:0.5231:0.0	.	.	.	.	X	407	.	ENSP00000357060:E407X	E	+	1	0	ATP1A4	158403113	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.075000	0.11431	0.200000	0.20447	0.650000	0.86243	GAG		0.552	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699		10	71	1	0	1.76689e-08	0.006214	2.15438e-08	10	71		
PVRL4	81607	broad.mit.edu	37	1	161046192	161046192	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:161046192G>C	ENST00000368012.3	-	4	1106	c.804C>G	c.(802-804)ctC>ctG	p.L268L	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_Silent_p.L2L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	268	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCAGGCACTTGAGCATAGCTC	0.562																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NaN																	0				ovary(2)	2						c.(802-804)CTC>CTG		poliovirus receptor-related 4 precursor							89.0	79.0	83.0					1																	161046192		2203	4300	6503	SO:0001819	synonymous_variant	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161046192G>C	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.804C>G	1.37:g.161046192G>C						PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.L2L	p.L268L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1103	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		268			Ig-like C2-type 2.|Extracellular (Potential).		B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	c.804C>G	CCDS1216.1																																																																																				0.562	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1		NM_030916		9	49	0	0	0	0.004482	0	9	49		
UHMK1	127933	broad.mit.edu	37	1	162468057	162468057	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:162468057C>T	ENST00000489294.1	+	1	425	c.267C>T	c.(265-267)atC>atT	p.I89I	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Splice_Site_p.I89I|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACAGAAACATCGGTAATTGCC	0.607																																						uc001gcc.1		NaN																	0					0						c.(265-267)ATC>ATT		kinase interacting stathmin							24.0	24.0	24.0					1																	162468057		2202	4300	6502	SO:0001630	splice_region_variant	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162468057C>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.268+1C>T	1.37:g.162468057C>T						UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.I89I	p.I89I	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	403	+	all_hematologic(112;0.115)		89			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Silent	SNP	ENST00000489294.1	37	c.267C>T	CCDS1239.1																																																																																				0.607	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1		NM_175866	Silent	4	22	0	0	0	0.001168	0	4	22		
FAM78B	149297	broad.mit.edu	37	1	166039523	166039523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166039523C>T	ENST00000338353.3	-	3	1330	c.741G>A	c.(739-741)tgG>tgA	p.W247*	FAM78B_ENST00000354422.3_Nonsense_Mutation_p.W247*			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	247										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCTTGGGCCTCCACATGAGGA	0.592																																						uc001gdr.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(739-741)TGG>TGA		hypothetical protein LOC149297							96.0	95.0	96.0					1																	166039523		2203	4300	6503	SO:0001587	stop_gained	149297							g.chr1:166039523C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.741G>A	1.37:g.166039523C>T	ENSP00000339681:p.Trp247*					FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	p.W247*	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	1331	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		247					B7Z693	Nonsense_Mutation	SNP	ENST00000338353.3	37	c.741G>A	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060069	0.76074	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.50313	D	0.999865	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3345	17.9326	0.89002	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000339681:W247X	W	-	3	0	FAM78B	164306147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.836000	0.97738	0.655000	0.94253	TGG		0.592	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1		NM_001017961		24	106	0	0	0	0.00333	0	24	106		
TADA1	117143	broad.mit.edu	37	1	166845422	166845422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:166845422C>A	ENST00000367874.4	-	1	142	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	17					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CCCAGGGCCTCGCTTAAGTTC	0.667																																						uc001gdw.2		NaN																	0				ovary(1)	1						c.(49-51)GAG>TAG		transcriptional adaptor 1-like							83.0	71.0	75.0					1																	166845422		2203	4300	6503	SO:0001587	stop_gained	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166845422C>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.49G>T	1.37:g.166845422C>A	ENSP00000356848:p.Glu17*					TADA1_uc009wve.2_Nonsense_Mutation_p.E17*	p.E17*	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			1	233	-			17					A8K4J9	Nonsense_Mutation	SNP	ENST00000367874.4	37	c.49G>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	38	7.136351	0.98088	.	.	ENSG00000152382	ENST00000367874	.	.	.	4.57	4.57	0.56435	.	0.056558	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.9437	14.9004	0.70675	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000356848:E17X	E	-	1	0	TADA1	165112046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.612000	0.61169	2.360000	0.80028	0.591000	0.81541	GAG		0.667	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1		NM_053053		9	47	1	0	2.74318e-10	0.006214	3.39654e-10	9	47		
ADCY10	55811	broad.mit.edu	37	1	167871010	167871010	+	Missense_Mutation	SNP	C	C	T	rs563436022		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:167871010C>T	ENST00000367851.4	-	5	510	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	ADCY10_ENST00000367848.1_Missense_Mutation_p.R17Q|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	109	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGCTGCTTTCGCTCCACCCT	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19527	0.0		0.0	False		,,,				2504	0.0					uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(325-327)CGA>CAA		adenylate cyclase 10							150.0	150.0	150.0					1																	167871010		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167871010C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.326G>A	1.37:g.167871010C>T	ENSP00000356825:p.Arg109Gln					ADCY10_uc009wvk.2_Missense_Mutation_p.R17Q|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.R108Q|ADCY10_uc009wvm.2_Intron	p.R109Q	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			5	624	-			109			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.326G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846890	0.51164	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	T;T	0.80994	-1.44;1.5	5.76	4.85	0.62838	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.116781	0.37809	N	0.001938	T	0.57213	0.2038	L	0.31578	0.945	0.32177	N	0.580874	P;P	0.52692	0.944;0.955	B;P	0.46172	0.372;0.506	T	0.58188	-0.7680	9	0.10636	T	0.68	-14.6094	10.976	0.47467	0.0:0.9143:0.0:0.0857	.	17;109	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Q	109;17	ENSP00000356825:R109Q;ENSP00000356822:R17Q	ENSP00000356822:R17Q	R	-	2	0	ADCY10	166137634	0.792000	0.28813	0.658000	0.29665	0.669000	0.39330	3.090000	0.50191	1.440000	0.47531	-0.262000	0.10625	CGA		0.493	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		26	140	0	0	0	0.004656	0	26	140		
GPR161	23432	broad.mit.edu	37	1	168054780	168054780	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:168054780C>T	ENST00000367838.1	-	8	1892	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	GPR161_ENST00000271357.5_Missense_Mutation_p.E527K|GPR161_ENST00000361697.2_Missense_Mutation_p.E527K|GPR161_ENST00000367835.1_Missense_Mutation_p.E527K|GPR161_ENST00000537209.1_Missense_Mutation_p.E547K|GPR161_ENST00000367836.1_Missense_Mutation_p.E395K|GPR161_ENST00000546300.1_Missense_Mutation_p.E413K|GPR161_ENST00000539777.1_Missense_Mutation_p.E449K	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	527					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CATCTCTGCTCGGCAGCTAAA	0.667																																						uc001gfc.2		NaN																	0					0						c.(1579-1581)GAG>AAG		G protein-coupled receptor 161 isoform 2							41.0	48.0	46.0					1																	168054780		2202	4300	6502	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054780C>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1579G>A	1.37:g.168054780C>T	ENSP00000356812:p.Glu527Lys					GPR161_uc001gfb.2_Missense_Mutation_p.E395K|GPR161_uc010pll.1_Missense_Mutation_p.E437K|GPR161_uc010plm.1_Missense_Mutation_p.E413K|GPR161_uc009wvo.2_Missense_Mutation_p.E544K|GPR161_uc001gfd.2_Missense_Mutation_p.E527K|GPR161_uc010pln.1_Missense_Mutation_p.E547K	p.E527K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			8	1893	-	all_hematologic(923;0.215)		527			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1579G>A	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.450947	0.43531	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.81659	-0.06;-0.06;-1.52;-0.06;-1.06;-1.04;0.02;-0.06	5.61	3.66	0.41972	.	0.412463	0.24638	N	0.036829	T	0.46927	0.1418	N	0.08118	0	0.25666	N	0.985947	B;B;B;B;B	0.29862	0.164;0.102;0.259;0.102;0.102	B;B;B;B;B	0.25759	0.063;0.017;0.063;0.017;0.017	T	0.45818	-0.9235	9	0.72032	D	0.01	-5.7185	12.6556	0.56786	0.0:0.6081:0.3919:0.0	.	547;413;449;547;527	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	K	527;527;395;527;413;449;547;527	ENSP00000356812:E527K;ENSP00000271357:E527K;ENSP00000356810:E395K;ENSP00000356809:E527K;ENSP00000444348:E413K;ENSP00000437576:E449K;ENSP00000441039:E547K;ENSP00000355194:E527K	ENSP00000271357:E527K	E	-	1	0	GPR161	166321404	0.670000	0.27512	0.019000	0.16419	0.043000	0.13939	2.705000	0.47127	0.624000	0.30286	0.645000	0.84053	GAG		0.667	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1		NM_007369		17	81	0	0	0	0.004007	0	17	81		
FMO1	2326	broad.mit.edu	37	1	171251468	171251468	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:171251468G>C	ENST00000354841.4	+	6	1310	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.L393L|FMO1_ENST00000402921.2_Silent_p.L330L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	393					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTCGAGTCCTGAAAGGTAAGT	0.448																																						uc009wvz.2		NaN																	0				skin(1)	1						c.(1177-1179)CTG>CTC		flavin containing monooxygenase 1							46.0	48.0	47.0					1																	171251468		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251468G>C	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1179G>C	1.37:g.171251468G>C						FMO1_uc010pme.1_Silent_p.L330L|FMO1_uc001ghl.2_Silent_p.L393L|FMO1_uc001ghm.2_Silent_p.L393L|FMO1_uc001ghn.2_Silent_p.L393L	p.L393L	NM_002021	NP_002012	Q01740	FMO1_HUMAN			7	1315	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		393					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.1179G>C	CCDS1294.1																																																																																				0.448	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1		NM_002021		7	51	0	0	0	0.001984	0	7	51		
ACBD6	84320	broad.mit.edu	37	1	180283851	180283851	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:180283851C>G	ENST00000367595.3	-	7	1357	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	224						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTTTGGCCTTCATTGTCCTAT	0.264																																						uc001gog.2		NaN																	0				ovary(1)	1						c.(670-672)GAA>CAA		acyl-coenzyme A binding domain containing 6							55.0	60.0	59.0					1																	180283851		2199	4296	6495	SO:0001583	missense	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180283851C>G	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.670G>C	1.37:g.180283851C>G	ENSP00000356567:p.Glu224Gln						p.E224Q	NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN			7	1291	-			224			ANK 2.			Missense_Mutation	SNP	ENST00000367595.3	37	c.670G>C	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673294	0.67928	.	.	ENSG00000135847	ENST00000367595	T	0.66099	-0.19	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.28192	0.835	0.58432	D	0.999999	D	0.69078	0.997	D	0.81914	0.995	T	0.64123	-0.6481	10	0.32370	T	0.25	-30.3478	15.7653	0.78120	0.0:1.0:0.0:0.0	.	224	Q9BR61	ACBD6_HUMAN	Q	224	ENSP00000356567:E224Q	ENSP00000356567:E224Q	E	-	1	0	ACBD6	178550474	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.235000	0.51328	2.821000	0.97095	0.650000	0.86243	GAA		0.264	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1		NM_032360		11	77	0	0	0	0.000978	0	11	77		
SHCBP1L	81626	broad.mit.edu	37	1	182921966	182921966	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:182921966C>G	ENST00000367547.3	-	1	539	c.303G>C	c.(301-303)gaG>gaC	p.E101D	SHCBP1L_ENST00000423786.1_5'Flank|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	173										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GCTGCGCCTCCTCTTCATCCT	0.701																																						uc001gpu.2		NaN																	0					0						c.(301-303)GAG>GAC		chromosome 1 open reading frame 14							25.0	24.0	25.0					1																	182921966		2202	4300	6502	SO:0001583	missense	81626							g.chr1:182921966C>G	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.303G>C	1.37:g.182921966C>G	ENSP00000356518:p.Glu101Asp					C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	p.E101D	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	1	588	-			173					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.303G>C	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	5.123	0.208337	0.09757	.	.	ENSG00000157060	ENST00000367547;ENST00000287709	T	0.47528	0.84	3.85	2.92	0.33932	.	0.376755	0.19475	N	0.113349	T	0.24812	0.0602	N	0.14661	0.345	0.44908	D	0.997926	B	0.02656	0.0	B	0.04013	0.001	T	0.04579	-1.0941	10	0.17369	T	0.5	-7.6378	5.7939	0.18375	0.0:0.6881:0.2007:0.1112	.	101	Q9BZQ2-3	.	D	101;170	ENSP00000356518:E101D	ENSP00000287709:E170D	E	-	3	2	SHCBP1L	181188589	0.309000	0.24518	0.286000	0.24833	0.247000	0.25773	0.526000	0.22971	0.725000	0.32318	-0.802000	0.03209	GAG		0.701	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1		NM_030933		9	22	0	0	0	0.000978	0	9	22		
TPR	7175	broad.mit.edu	37	1	186322927	186322927	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:186322927G>A	ENST00000367478.4	-	18	2523	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	743					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTCTCTCATGAAGTGATGTT	0.353			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2227-2229)CAT>TAT		nuclear pore complex-associated protein TPR							262.0	236.0	245.0					1																	186322927		1918	4131	6049	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186322927G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2227C>T	1.37:g.186322927G>A	ENSP00000356448:p.His743Tyr						p.H743Y	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	18	2524	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	743			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2227C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748945	0.49257	.	.	ENSG00000047410	ENST00000367478	T	0.17054	2.3	5.56	5.56	0.83823	.	0.347516	0.34906	N	0.003599	T	0.15739	0.0379	N	0.22421	0.69	0.26586	N	0.973294	B	0.15473	0.013	B	0.12837	0.008	T	0.15235	-1.0444	10	0.59425	D	0.04	.	19.5353	0.95251	0.0:0.0:1.0:0.0	.	743	P12270	TPR_HUMAN	Y	743	ENSP00000356448:H743Y	ENSP00000356448:H743Y	H	-	1	0	TPR	184589550	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	3.940000	0.56599	2.607000	0.88179	0.655000	0.94253	CAT		0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		13	98	0	0	0	0.001368	0	13	98		
KCNT2	343450	broad.mit.edu	37	1	196251455	196251455	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196251455G>C	ENST00000294725.9	-	24	3644	c.2729C>G	c.(2728-2730)aCg>aGg	p.T910R	KCNT2_ENST00000367433.5_Missense_Mutation_p.T886R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T836R|KCNT2_ENST00000367431.4_Missense_Mutation_p.T836R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	910					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T910R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAGTCTCGTGATAGAAAT	0.308																																						uc001gtd.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(2728-2730)ACG>AGG		potassium channel, subfamily T, member 2							68.0	79.0	75.0					1																	196251455		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196251455G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2729C>G	1.37:g.196251455G>C	ENSP00000294725:p.Thr910Arg					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T836R|KCNT2_uc001gtf.1_Missense_Mutation_p.T886R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T886R|KCNT2_uc001gth.1_Missense_Mutation_p.T407R	p.T910R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			24	2789	-			910			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2729C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253081	0.80135	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.75367	-0.93;-0.93;-0.93	6.16	6.16	0.99307	.	0.096089	0.46442	N	0.000282	D	0.83862	0.5346	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.56521	0.96;0.976;0.976;0.976;0.96	P;P;P;P;P	0.58013	0.683;0.831;0.831;0.831;0.683	D	0.84179	0.0438	10	0.87932	D	0	-18.2488	19.6313	0.95704	0.0:0.0:1.0:0.0	.	910;868;886;836;910	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	886;836;910	ENSP00000356403:T886R;ENSP00000356401:T836R;ENSP00000294725:T910R	ENSP00000294725:T910R	T	-	2	0	KCNT2	194518078	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.008000	0.63991	2.937000	0.99478	0.650000	0.86243	ACG		0.308	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503		6	52	0	0	0	0.00308	0	6	52		
CFHR1	3078	broad.mit.edu	37	1	196797272	196797272	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:196797272C>T	ENST00000320493.5	+	4	591	c.503C>T	c.(502-504)tCt>tTt	p.S168F	CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	168	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAATATCCATCTGGTGAGAGA	0.413																																						uc001gtn.2		NaN																	0					0						c.(502-504)TCT>TTT		complement factor H-related 1 precursor							64.0	93.0	84.0					1																	196797272		1785	4094	5879	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196797272C>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.503C>T	1.37:g.196797272C>T	ENSP00000314299:p.Ser168Phe					CFHR1_uc001gtm.2_Missense_Mutation_p.S72F	p.S168F	NM_002113	NP_002104	Q03591	FHR1_HUMAN			4	617	+			168			Sushi 3.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.503C>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	7.027	0.559845	0.13436	.	.	ENSG00000244414	ENST00000320493	T	0.61980	0.06	3.42	0.72	0.18214	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65238	0.2672	L	0.41632	1.29	0.09310	N	0.999998	P;D	0.69078	0.879;0.997	P;D	0.64144	0.621;0.922	T	0.53330	-0.8454	9	0.59425	D	0.04	.	7.4642	0.27312	0.5679:0.432:0.0:0.0	.	168;1069	Q03591;A8K5T0	FHR1_HUMAN;.	F	168	ENSP00000314299:S168F	ENSP00000314299:S168F	S	+	2	0	CFHR1	195063895	0.008000	0.16893	0.028000	0.17463	0.025000	0.11179	-0.191000	0.09601	0.488000	0.27723	0.398000	0.26397	TCT		0.413	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2		NM_002113		17	26	0	0	0	0.006122	0	17	26		
DDX59	83479	broad.mit.edu	37	1	200617569	200617569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200617569G>C	ENST00000331314.6	-	7	1807	c.1594C>G	c.(1594-1596)Cag>Gag	p.Q532E	DDX59_ENST00000367348.3_Missense_Mutation_p.Q532E|DDX59_ENST00000447706.2_Missense_Mutation_p.Q532E	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	532	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTCCTTACCTGATGGACATAC	0.418																																						uc009wzk.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1594-1596)CAG>GAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							140.0	127.0	131.0					1																	200617569		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200617569G>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1594C>G	1.37:g.200617569G>C	ENSP00000330460:p.Gln532Glu					DDX59_uc010ppl.1_Missense_Mutation_p.Q532E	p.Q532E	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			7	1837	-			532			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1594C>G	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.786785|4.786785	0.90367|0.90367	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235|ENST00000452560;ENST00000429498	D;T;T;T;T|.	0.92099|.	-2.97;-0.88;-0.88;-0.88;-0.88|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51312|.	0.1667|.	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.982|.	T|.	0.46484|.	-0.9188|.	10|.	0.72032|.	D|.	0.01|.	-21.9941|-21.9941	19.1974|19.1974	0.93695|0.93695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	532;532|.	B7Z5N6;Q5T1V6|.	.;DDX59_HUMAN|.	E|X	532;170;532;118;532;175|68;109	ENSP00000394367:Q532E;ENSP00000394304:Q170E;ENSP00000356317:Q532E;ENSP00000330460:Q532E;ENSP00000409954:Q175E|.	ENSP00000330460:Q532E|.	Q|S	-|-	1|2	0|0	DDX59|DDX59	198884192|198884192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.848000|9.848000	0.99507|0.99507	2.529000|2.529000	0.85273|0.85273	0.579000|0.579000	0.79373|0.79373	CAG|TCA		0.418	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2		NM_001031725.4		26	54	0	0	0	0.00632	0	26	54		
KIF21B	23046	broad.mit.edu	37	1	200967564	200967564	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:200967564C>G	ENST00000422435.2	-	14	2341	c.2025G>C	c.(2023-2025)caG>caC	p.Q675H	KIF21B_ENST00000332129.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q675H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q675H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	675					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGATCTTGTTCTGCAGCAGAA	0.582																																						uc001gvs.1		NaN																	0				ovary(3)|skin(3)	6						c.(2023-2025)CAG>CAC		kinesin family member 21B							110.0	109.0	109.0					1																	200967564		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967564C>G	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2025G>C	1.37:g.200967564C>G	ENSP00000411831:p.Gln675His					KIF21B_uc001gvr.1_Missense_Mutation_p.Q675H|KIF21B_uc009wzl.1_Missense_Mutation_p.Q675H|KIF21B_uc010ppn.1_Missense_Mutation_p.Q675H	p.Q675H	NM_017596	NP_060066	O75037	KI21B_HUMAN			14	2342	-			675			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2025G>C	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901215	0.72754	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.31	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.66506	2.035	0.49389	D	0.999781	D;D;D;D	0.71674	0.996;0.998;0.996;0.998	D;D;D;D	0.80764	0.986;0.993;0.986;0.994	T	0.29305	-1.0016	10	0.59425	D	0.04	.	11.0855	0.48084	0.0:0.8506:0.0:0.1494	.	675;675;675;675	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	675	ENSP00000328494:Q675H;ENSP00000353724:Q675H;ENSP00000433808:Q675H;ENSP00000411831:Q675H	ENSP00000328494:Q675H	Q	-	3	2	KIF21B	199234187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.945000	0.40273	1.239000	0.43787	0.650000	0.86243	CAG		0.582	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		28	130	0	0	0	0.001786	0	28	130		
ELF3	1999	broad.mit.edu	37	1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981484C>T	ENST00000359651.3	+	3	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|ELF3_ENST00000495848.1_3'UTR					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582																																						uc001gxg.3		NaN																	0					0						c.(397-399)TCT>TTT		E74-like factor 3 (ets domain transcription							70.0	76.0	74.0					1																	201981484		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981484C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.398C>T	1.37:g.201981484C>T	ENSP00000352673:p.Ser133Phe					ELF3_uc001gxi.3_Missense_Mutation_p.S133F|ELF3_uc001gxh.3_Missense_Mutation_p.S133F	p.S133F	NM_004433	NP_004424	P78545	ELF3_HUMAN			3	3590	+			133						Missense_Mutation	SNP	ENST00000359651.3	37	c.398C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356067	0.61293	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.52526	2.38;2.38;2.38;0.66	5.4	4.48	0.54585	Sterile alpha motif/pointed domain (1);	5.936500	0.00508	N	0.000165	T	0.59211	0.2177	L	0.50333	1.59	0.22305	N	0.999218	D	0.57257	0.979	P	0.53722	0.733	T	0.49818	-0.8899	10	0.15952	T	0.53	.	13.8186	0.63308	0.1533:0.8467:0.0:0.0	.	133	P78545	ELF3_HUMAN	F	133;133;133;133;131	ENSP00000352673:S133F;ENSP00000356253:S133F;ENSP00000356252:S133F;ENSP00000405162:S131F	ENSP00000311348:S133F	S	+	2	0	ELF3	200248107	0.010000	0.17322	0.021000	0.16686	0.139000	0.21198	1.510000	0.35790	1.262000	0.44165	-0.188000	0.12872	TCT		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		24	132	0	0	0	0.004656	0	24	132		
ELF3	1999	broad.mit.edu	37	1	201981809	201981809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:201981809C>T	ENST00000359651.3	+	4	3712	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.Q174*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.Q174*					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACGACGGTCAGCAAGCCAG	0.667																																						uc001gxg.3		NaN																	0					0						c.(520-522)CAG>TAG		E74-like factor 3 (ets domain transcription							31.0	37.0	35.0					1																	201981809		2203	4299	6502	SO:0001587	stop_gained	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981809C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.520C>T	1.37:g.201981809C>T	ENSP00000352673:p.Gln174*					ELF3_uc001gxi.3_Nonsense_Mutation_p.Q174*|ELF3_uc001gxh.3_Nonsense_Mutation_p.Q174*	p.Q174*	NM_004433	NP_004424	P78545	ELF3_HUMAN			4	3712	+			174						Nonsense_Mutation	SNP	ENST00000359651.3	37	c.520C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897246	0.52121	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000446188	.	.	.	4.92	0.304	0.15796	.	2.484490	0.01420	N	0.014354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6529	0.22971	0.4715:0.4359:0.0:0.0926	.	.	.	.	X	174;174;174;172	.	ENSP00000352673:Q174X	Q	+	1	0	ELF3	200248432	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.090000	0.15025	0.467000	0.27218	0.655000	0.94253	CAG		0.667	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		16	77	0	0	0	0.004007	0	16	77		
LAX1	54900	broad.mit.edu	37	1	203734754	203734754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:203734754C>G	ENST00000442561.2	+	1	451	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	LAX1_ENST00000367217.5_Intron	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	21					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCAGCACTCTGCATGTGAC	0.557																																						uc001haa.2		NaN																	0				central_nervous_system(2)	2						c.(61-63)CTG>GTG		lymphocyte transmembrane adaptor 1 isoform a							92.0	71.0	78.0					1																	203734754		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203734754C>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.61C>G	1.37:g.203734754C>G	ENSP00000406970:p.Leu21Val					LAX1_uc010pql.1_Intron	p.L21V	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		1	471	+	all_cancers(21;0.0915)		21			Extracellular (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.61C>G	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	7.578	0.668196	0.14710	.	.	ENSG00000122188	ENST00000442561	.	.	.	4.08	3.08	0.35506	.	0.939822	0.08632	N	0.916920	T	0.28896	0.0717	L	0.47716	1.5	0.21064	N	0.999796	P	0.36909	0.573	B	0.33521	0.165	T	0.08452	-1.0721	9	0.22109	T	0.4	1.6176	8.471	0.32986	0.2319:0.7681:0.0:0.0	.	21	Q8IWV1	LAX1_HUMAN	V	21	.	ENSP00000406970:L21V	L	+	1	2	LAX1	202001377	0.001000	0.12720	0.019000	0.16419	0.013000	0.08279	0.166000	0.16583	2.254000	0.74563	0.655000	0.94253	CTG		0.557	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3		NM_017773		6	36	0	0	0	0.001984	0	6	36		
PIK3C2B	5287	broad.mit.edu	37	1	204438482	204438482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204438482G>C	ENST00000367187.3	-	3	1005	c.449C>G	c.(448-450)tCt>tGt	p.S150C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S150C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	150	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTCTTGCAAGAGCCCTCTAT	0.577																																						uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(448-450)TCT>TGT		phosphoinositide-3-kinase, class 2 beta							47.0	54.0	52.0					1																	204438482		2202	4300	6502	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438482G>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.449C>G	1.37:g.204438482G>C	ENSP00000356155:p.Ser150Cys					PIK3C2B_uc010pqv.1_Missense_Mutation_p.S150C|PIK3C2B_uc001hax.1_Missense_Mutation_p.S150C|PIK3C2B_uc009xbd.1_RNA	p.S150C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	928	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		150			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.449C>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172553	0.57584	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.63913	-0.07;-0.0	5.14	5.14	0.70334	.	0.000000	0.36854	N	0.002366	T	0.68915	0.3053	L	0.27053	0.805	0.41641	D	0.98907	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.70630	-0.4819	10	0.45353	T	0.12	.	16.3922	0.83543	0.0:0.0:1.0:0.0	.	150;150	F5GWN5;O00750	.;P3C2B_HUMAN	C	150	ENSP00000356155:S150C;ENSP00000400561:S150C	ENSP00000356155:S150C	S	-	2	0	PIK3C2B	202705105	1.000000	0.71417	0.567000	0.28434	0.443000	0.32047	3.444000	0.52914	2.384000	0.81235	0.462000	0.41574	TCT		0.577	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		6	68	0	0	0	0.001168	0	6	68		
NFASC	23114	broad.mit.edu	37	1	204942505	204942505	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:204942505G>A	ENST00000401399.1	+	11	1436	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	NFASC_ENST00000367170.4_Missense_Mutation_p.E413K|NFASC_ENST00000338515.6_Missense_Mutation_p.E413K|NFASC_ENST00000367171.4_Missense_Mutation_p.E413K|NFASC_ENST00000360049.4_Missense_Mutation_p.E424K|NFASC_ENST00000539706.1_Missense_Mutation_p.E424K|NFASC_ENST00000367169.4_Missense_Mutation_p.E413K|NFASC_ENST00000403080.1_Missense_Mutation_p.E413K|NFASC_ENST00000404076.1_Missense_Mutation_p.E407K|NFASC_ENST00000404907.1_Missense_Mutation_p.E424K|NFASC_ENST00000338586.6_Missense_Mutation_p.E413K|NFASC_ENST00000513543.1_Missense_Mutation_p.E424K|NFASC_ENST00000339876.6_Missense_Mutation_p.E413K|NFASC_ENST00000367172.4_Missense_Mutation_p.E413K			O94856	NFASC_HUMAN	neurofascin	413	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCCAACGAGCATGGCTA	0.607																																						uc001hbj.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1237-1239)GAG>AAG		neurofascin isoform 1 precursor							242.0	165.0	191.0					1																	204942505		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204942505G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1237G>A	1.37:g.204942505G>A	ENSP00000385637:p.Glu413Lys					NFASC_uc001hbh.2_Missense_Mutation_p.E413K|NFASC_uc010pqz.1_Missense_Mutation_p.E407K|NFASC_uc010pra.1_Missense_Mutation_p.E424K|NFASC_uc001hbi.2_Missense_Mutation_p.E424K|NFASC_uc009xbg.1_Missense_Mutation_p.E497K|NFASC_uc010prb.1_Missense_Mutation_p.E424K|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.E234K	p.E413K	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1565	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		413			Extracellular (Potential).|Ig-like C2-type 4.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1237G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158109	0.57368	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.28	5.28	0.74379	.	0.111764	0.39274	N	0.001414	T	0.43299	0.1241	N	0.11255	0.115	0.53688	D	0.999979	B;B;P;B;B;B;P	0.45428	0.236;0.031;0.657;0.134;0.037;0.027;0.858	B;B;B;B;B;B;B	0.37239	0.066;0.007;0.08;0.017;0.003;0.007;0.244	T	0.53457	-0.8436	10	0.02654	T	1	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	424;424;509;413;413;424;413	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.;.	K	413;413;413;413;413;413;424;424;424;413;413;407;413;424;424;400	ENSP00000356140:E413K;ENSP00000356139:E413K;ENSP00000356138:E413K;ENSP00000342128:E413K;ENSP00000344786:E413K;ENSP00000343509:E413K;ENSP00000438614:E424K;ENSP00000353154:E424K;ENSP00000356137:E413K;ENSP00000384875:E413K;ENSP00000385676:E407K;ENSP00000385637:E413K;ENSP00000384061:E424K;ENSP00000425908:E424K;ENSP00000415031:E400K	ENSP00000295776:E424K	E	+	1	0	NFASC	203209128	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.266000	0.65525	2.479000	0.83701	0.655000	0.94253	GAG		0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388		16	37	0	0	0	0.004007	0	16	37		
ELK4	2005	broad.mit.edu	37	1	205589767	205589767	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205589767G>T	ENST00000357992.4	-	3	746	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.S136Y	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	136					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATTGCGGCTAGAGGTCTTGGC	0.418			T	SLC45A3	prostate																																	uc001hcy.1		NaN		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		0					0						c.(406-408)TCT>TAT		ELK4 protein isoform a							137.0	112.0	120.0					1																	205589767		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589767G>T	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.407C>A	1.37:g.205589767G>T	ENSP00000350681:p.Ser136Tyr					ELK4_uc001hcz.2_Missense_Mutation_p.S136Y	p.S136Y	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1657	-	Breast(84;0.07)		136					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.407C>A	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653153	0.88056	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.57273	0.41;0.41	5.8	5.8	0.92144	.	0.097750	0.64402	D	0.000001	T	0.73992	0.3658	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.75291	-0.3369	10	0.66056	D	0.02	.	18.6268	0.91342	0.0:0.0:1.0:0.0	.	136;136	P28324-2;P28324	.;ELK4_HUMAN	Y	226;136;136	ENSP00000350681:S136Y;ENSP00000289703:S136Y	ENSP00000289703:S136Y	S	-	2	0	ELK4	203856390	1.000000	0.71417	0.927000	0.36925	0.982000	0.71751	7.503000	0.81632	2.741000	0.93983	0.650000	0.86243	TCT		0.418	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1		NM_021795		10	107	1	0	2.74318e-10	0.006214	3.39654e-10	10	107		
SLC45A3	85414	broad.mit.edu	37	1	205628644	205628644	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205628644G>C	ENST00000367145.3	-	5	1675	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	460					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCCCCGCAGAGCGCGGGTG	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hda.1		NaN		Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(1378-1380)CTC>CTG		prostein							35.0	36.0	36.0					1																	205628644		2203	4300	6503	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205628644G>C	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1380C>G	1.37:g.205628644G>C			OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.L460L	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		5	1719	-	Breast(84;0.07)		460					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.1380C>G	CCDS1458.1																																																																																				0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1		NM_033102		7	24	0	0	0	0.00308	0	7	24		
SLC26A9	115019	broad.mit.edu	37	1	205892252	205892252	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:205892252C>T	ENST00000367135.3	-	16	1844	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	SLC26A9_ENST00000340781.4_Missense_Mutation_p.M577I|SLC26A9_ENST00000367134.2_Missense_Mutation_p.M577I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	577	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTGTGGGCCTCATTCTCCGCT	0.522																																						uc001hdq.2		NaN																	0				ovary(1)|skin(1)	2						c.(1729-1731)ATG>ATA		solute carrier family 26, member 9 isoform a							244.0	209.0	221.0					1																	205892252		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892252C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1731G>A	1.37:g.205892252C>T	ENSP00000356103:p.Met577Ile					SLC26A9_uc001hdo.2_Missense_Mutation_p.M245I|SLC26A9_uc001hdp.2_Missense_Mutation_p.M577I	p.M577I	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		16	1845	-	Breast(84;0.201)		577			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1731G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	4.503	0.093315	0.08632	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92299	-3.01;-2.98;-3.01	5.39	0.172	0.15031	Sulphate transporter/antisigma-factor antagonist STAS (3);	1.311950	0.05118	N	0.490146	T	0.81922	0.4925	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.13407	0.001;0.009	T	0.68036	-0.5515	10	0.29301	T	0.29	.	5.8596	0.18738	0.0:0.3515:0.3634:0.2851	.	577;577	Q7LBE3;B1AVM8	S26A9_HUMAN;.	I	577	ENSP00000341682:M577I;ENSP00000356103:M577I;ENSP00000356102:M577I	ENSP00000341682:M577I	M	-	3	0	SLC26A9	204158875	0.005000	0.15991	0.000000	0.03702	0.621000	0.37620	0.078000	0.14761	-0.231000	0.09825	-0.136000	0.14681	ATG		0.522	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1		NM_052934		23	101	0	0	0	0.003954	0	23	101		
IKBKE	9641	broad.mit.edu	37	1	206652436	206652436	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206652436C>G	ENST00000367120.3	+	10	1516	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	IKBKE_ENST00000537984.1_Silent_p.L296L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	381					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCTGACCCTCTTCAGCACAG	0.607																																						uc001hdz.1		NaN																	0				ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(1141-1143)CTC>CTG		IKK-related kinase epsilon							63.0	59.0	60.0					1																	206652436		2203	4300	6503	SO:0001819	synonymous_variant	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206652436C>G	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1143C>G	1.37:g.206652436C>G						IKBKE_uc009xbv.1_Silent_p.L381L|IKBKE_uc001hea.1_Silent_p.L296L	p.L381L	NM_014002	NP_054721	Q14164	IKKE_HUMAN			10	1511	+	Breast(84;0.137)		381					D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.1143C>G	CCDS30996.1																																																																																				0.607	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1				17	43	0	0	0	0.004007	0	17	43		
EIF2D	1939	broad.mit.edu	37	1	206772966	206772966	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:206772966C>T	ENST00000271764.2	-	10	1261	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	EIF2D_ENST00000367114.3_Splice_Site_p.R227R|EIF2D_ENST00000472709.2_5'Flank	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	351					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGATGTAATCCTAAAACCCA	0.532																																						uc001heh.2		NaN																	0					0						c.(1051-1053)AGG>AGA		ligatin							68.0	76.0	73.0					1																	206772966		2203	4300	6503	SO:0001630	splice_region_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206772966C>T	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1053-1G>A	1.37:g.206772966C>T						LGTN_uc009xbw.2_Silent_p.R227R	p.R351R	NM_006893	NP_008824	P41214	EIF2D_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1262	-	Breast(84;0.183)		351					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.1053G>A	CCDS1465.1																																																																																				0.532	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1		NM_006893	Silent	13	76	0	0	0	0.00245	0	13	76		
IRF6	3664	broad.mit.edu	37	1	209974644	209974644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974644G>C	ENST00000367021.3	-	3	287	c.115C>G	c.(115-117)Ccc>Gcc	p.P39A	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	39			P -> A (in VWS1). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTTCCAGGGAATCTGGAAG	0.512										HNSCC(57;0.16)																												uc001hhq.1		NaN																	0				ovary(2)	2	GRCh37	CM022378	IRF6	M		c.(115-117)CCC>GCC		interferon regulatory factor 6							88.0	94.0	92.0					1																	209974644		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974644G>C	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.115C>G	1.37:g.209974644G>C	ENSP00000355988:p.Pro39Ala	HNSCC(57;0.16)				IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.P39A	p.P39A	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	378	-			39		P -> A (in VWS).	IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.115C>G	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834681	0.91036	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.99494	-6.01;-6.01	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.047074	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97862	1.0281	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	39	O14896	IRF6_HUMAN	A	39	ENSP00000355988:P39A;ENSP00000403855:P39A	.	P	-	1	0	IRF6	208041267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.231000	0.95317	2.941000	0.99782	0.655000	0.94253	CCC		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1		NM_006147		15	120	0	0	0	0.004007	0	15	120		
IRF6	3664	broad.mit.edu	37	1	209974759	209974759	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:209974759G>C	ENST00000367021.3	-	0	172				IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGAGGGCCATGATCTGGGGGG	0.592										HNSCC(57;0.16)																												uc001hhq.1		NaN																	0				ovary(2)	2						c.(-2-2)ATCAT>ATGAT		interferon regulatory factor 6							35.0	42.0	40.0					1																	209974759		2197	4298	6495			3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974759G>C	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521		1.37:g.209974759G>C		HNSCC(57;0.16)				IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Translation_Start_Site		NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	263	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Translation_Start_Site	SNP	ENST00000367021.3	37	c.0C>G	CCDS1492.1																																																																																				0.592	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1		NM_006147		9	98	0	0	0	0.008291	0	9	98		
SMYD2	56950	broad.mit.edu	37	1	214505378	214505378	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:214505378G>A	ENST00000366957.5	+	10	977	c.955G>A	c.(955-957)Gag>Aag	p.E319K	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	319					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGAGCTGCTGGAGATCTGCGA	0.562											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ptx.1		NaN																	0				ovary(1)	1						c.(955-957)GAG>AAG		SET and MYND domain containing 2							104.0	78.0	87.0					1																	214505378		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214505378G>A	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.955G>A	1.37:g.214505378G>A	ENSP00000355924:p.Glu319Lys		OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2221	SMYD2_uc009xdj.2_3'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_Intron	p.E319K	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	10	988	+			319					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.955G>A	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431812	0.43122	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	T	0.18174	2.23	5.96	5.96	0.96718	.	0.094157	0.64402	D	0.000001	T	0.10423	0.0255	N	0.11427	0.14	0.80722	D	1	B	0.22746	0.074	B	0.11329	0.006	T	0.16424	-1.0403	10	0.06891	T	0.86	-5.7918	20.422	0.99049	0.0:0.0:1.0:0.0	.	319	Q9NRG4	SMYD2_HUMAN	K	319;38	ENSP00000355924:E319K	ENSP00000355924:E319K	E	+	1	0	SMYD2	212572001	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.835000	0.99442	2.832000	0.97577	0.655000	0.94253	GAG		0.562	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1		NM_020197		7	38	0	0	0	0.00308	0	7	38		
DUSP10	11221	broad.mit.edu	37	1	221876002	221876002	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:221876002C>G	ENST00000366899.3	-	4	1439	c.1201G>C	c.(1201-1203)Ggg>Cgg	p.G401R	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.G59R|DUSP10_ENST00000323825.3_Missense_Mutation_p.G59R	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	401	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AGCCCCTTCCCACACTGGTGA	0.522																																						uc001hmy.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(1201-1203)GGG>CGG		dual specificity phosphatase 10 isoform a							55.0	54.0	55.0					1																	221876002		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221876002C>G	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1201G>C	1.37:g.221876002C>G	ENSP00000355866:p.Gly401Arg					DUSP10_uc001hmx.1_Missense_Mutation_p.G59R|DUSP10_uc001hmz.1_Missense_Mutation_p.G59R	p.G401R	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	4	1383	-			401			Tyrosine-protein phosphatase.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.1201G>C	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909472	0.72868	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	T;T;T	0.64260	-0.09;-0.09;-0.09	5.72	4.81	0.61882	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82277	-0.0537	10	0.42905	T	0.14	.	15.0027	0.71486	0.0:0.9317:0.0:0.0683	.	401	Q9Y6W6	DUS10_HUMAN	R	401;346;59;59	ENSP00000355866:G401R;ENSP00000322015:G59R;ENSP00000441302:G59R	ENSP00000322015:G59R	G	-	1	0	DUSP10	219942625	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.027000	0.70881	1.569000	0.49696	0.655000	0.94253	GGG		0.522	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1		NM_007207		14	42	0	0	0	0.003163	0	14	42		
MIA3	375056	broad.mit.edu	37	1	222826446	222826446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:222826446C>T	ENST00000344922.5	+	14	4208	c.4183C>T	c.(4183-4185)Ctt>Ttt	p.L1395F	MIA3_ENST00000344441.6_Missense_Mutation_p.L1395F|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.L273F	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1395					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGTAGCTCTTACTCACAA	0.348																																						uc001hnl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(4183-4185)CTT>TTT		melanoma inhibitory activity family, member 3							110.0	98.0	101.0					1																	222826446		1842	4087	5929	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222826446C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4183C>T	1.37:g.222826446C>T	ENSP00000340900:p.Leu1395Phe					MIA3_uc009xea.1_Missense_Mutation_p.L1172F|MIA3_uc001hnm.2_Missense_Mutation_p.L273F	p.L1395F	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	14	4192	+			1395			Potential.|Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4183C>T	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.316595|3.316595	0.60524|0.60524	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.71461|.	-0.57;-0.57;0.97|.	5.8|5.8	3.91|3.91	0.45181|0.45181	.|.	.|.	.|.	.|.	.|.	T|T	0.56645|0.56645	0.1999|0.1999	M|M	0.73217|0.73217	2.22|2.22	0.29294|0.29294	N|N	0.869171|0.869171	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.76071|.	0.987;0.978;0.952|.	T|T	0.53975|0.53975	-0.8362|-0.8362	9|5	0.56958|.	D|.	0.05|.	.|.	11.5417|11.5417	0.50669|0.50669	0.0:0.8063:0.1261:0.0676|0.0:0.8063:0.1261:0.0676	.|.	1336;273;1395|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	F|F	1395;1395;1336;273;273|918	ENSP00000340900:L1395F;ENSP00000340587:L1395F;ENSP00000345866:L273F|.	ENSP00000284471:L273F|.	L|S	+|+	1|2	0|0	MIA3|MIA3	220893069|220893069	0.999000|0.999000	0.42202|0.42202	0.004000|0.004000	0.12327|0.12327	0.987000|0.987000	0.75469|0.75469	2.465000|2.465000	0.45075|0.45075	0.760000|0.760000	0.33108|0.33108	0.557000|0.557000	0.71058|0.71058	CTT|TCT		0.348	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551		4	48	0	0	0	0.000248	0	4	48		
ADCK3	56997	broad.mit.edu	37	1	227149128	227149128	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227149128C>T	ENST00000366779.1	+	7	2813	c.42C>T	c.(40-42)ggC>ggT	p.G14G	ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Silent_p.G14G|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	14					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGGCTAAAGGCCTTGTCAAGC	0.642																																						uc001hqm.1		NaN																	0					0						c.(40-42)GGC>GGT		chaperone, ABC1 activity of bc1 complex like							51.0	51.0	51.0					1																	227149128		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227149128C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.42C>T	1.37:g.227149128C>T						CABC1_uc010pvp.1_5'UTR|CABC1_uc001hqn.1_Silent_p.G14G|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron	p.G14G	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			7	3461	+		Prostate(94;0.0771)	14					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.42C>T	CCDS1557.1																																																																																				0.642	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247		6	92	0	0	0	0.001168	0	6	92		
SNAP47	116841	broad.mit.edu	37	1	227923158	227923158	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:227923158G>A	ENST00000366759.4	+	1	462	c.48G>A	c.(46-48)ccG>ccA	p.P16P	JMJD4_ENST00000485807.1_5'Flank|JMJD4_ENST00000438896.2_5'Flank|JMJD4_ENST00000366758.3_5'Flank|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.P16P	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	16					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCGAGCGGCCGAGGCGCCGCG	0.761																																						uc001hrf.2		NaN																	0				ovary(1)	1						c.(46-48)CCG>CCA		synaptosomal-associated protein, 47kDa							4.0	4.0	4.0					1																	227923158		1320	2966	4286	SO:0001819	synonymous_variant	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227923158G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.48G>A	1.37:g.227923158G>A						SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P16P|SNAP47_uc001hre.2_5'UTR|JMJD4_uc001hrc.2_5'Flank|JMJD4_uc001hrb.2_5'Flank	p.P16P	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			1	462	+			16					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Silent	SNP	ENST00000366759.4	37	c.48G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638033	0.29157	.	.	ENSG00000143740	ENST00000426344	.	.	.	2.96	-2.28	0.06826	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	1.9414	0.03347	0.1285:0.3684:0.3164:0.1867	.	.	.	.	K	8	.	.	E	+	1	0	SNAP47	225989781	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.199000	0.17237	-0.245000	0.09625	-0.868000	0.02995	GAG		0.761	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1		NM_053052		3	5	0	0	0	0.004672	0	3	5		
C1orf35	79169	broad.mit.edu	37	1	228290054	228290054	+	Missense_Mutation	SNP	C	C	G	rs373950653		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:228290054C>G	ENST00000272139.4	-	5	638	c.404G>C	c.(403-405)cGa>cCa	p.R135P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	135							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTTGTCCTCTCGGGACATCGC	0.692																																						uc001hrx.2		NaN																	0					0						c.(403-405)CGA>CCA		hypothetical protein LOC79169							21.0	23.0	22.0					1																	228290054		2200	4297	6497	SO:0001583	missense	79169							g.chr1:228290054C>G	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.404G>C	1.37:g.228290054C>G	ENSP00000272139:p.Arg135Pro					C1orf35_uc009xew.2_RNA	p.R135P	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN			5	498	-		Prostate(94;0.0488)	135					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.404G>C	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781078	0.70222	.	.	ENSG00000143793	ENST00000272139	.	.	.	4.1	3.18	0.36537	.	0.319538	0.28349	N	0.015668	T	0.58177	0.2104	L	0.54323	1.7	0.41000	D	0.984922	D	0.76494	0.999	D	0.63381	0.914	T	0.60571	-0.7237	9	0.56958	D	0.05	-12.1952	4.7879	0.13234	0.0:0.7665:0.0:0.2335	.	135	Q9BU76	MMTA2_HUMAN	P	135	.	ENSP00000272139:R135P	R	-	2	0	C1orf35	226356677	0.994000	0.37717	0.998000	0.56505	0.319000	0.28217	2.399000	0.44495	2.295000	0.77249	0.491000	0.48974	CGA		0.692	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1		NM_024319		4	18	0	0	0	0.000602	0	4	18		
PCNXL2	80003	broad.mit.edu	37	1	233314877	233314877	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:233314877G>A	ENST00000258229.9	-	16	3345	c.3111C>T	c.(3109-3111)ttC>ttT	p.F1037F	PCNXL2_ENST00000488780.2_Silent_p.F170F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1037						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGGCCACAGAAGGCCGAAA	0.512																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(3109-3111)TTC>TTT		pecanex-like 2							116.0	123.0	121.0					1																	233314877		2058	4223	6281	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233314877G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3111C>T	1.37:g.233314877G>A						PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.F1037F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			16	3346	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1037			Helical; (Potential).		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.3111C>T	CCDS44335.1																																																																																				0.512	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		10	57	0	0	0	0.001368	0	10	57		
IRF2BP2	359948	broad.mit.edu	37	1	234744657	234744657	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:234744657G>A	ENST00000366609.3	-	1	614	c.584C>T	c.(583-585)tCg>tTg	p.S195L	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'Flank|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.S195L	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	195	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGGCGTGGCCGAGCCGTTCAT	0.766																																						uc001hwg.2		NaN																	0					0						c.(583-585)TCG>TTG		interferon regulatory factor 2 binding protein 2							4.0	5.0	5.0					1																	234744657		1237	2793	4030	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234744657G>A	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.584C>T	1.37:g.234744657G>A	ENSP00000355568:p.Ser195Leu					IRF2BP2_uc009xfw.2_5'Flank|IRF2BP2_uc001hwf.2_Missense_Mutation_p.S195L	p.S195L	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		1	615	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	195			Pro-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.584C>T	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165333	0.57476	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.30182	1.54;1.57	2.8	1.77	0.24775	.	0.738448	0.12165	U	0.493609	T	0.13415	0.0325	N	0.24115	0.695	0.32286	N	0.566897	P;P	0.46142	0.799;0.873	B;B	0.25759	0.029;0.063	T	0.17561	-1.0365	10	0.30078	T	0.28	.	8.5722	0.33576	0.0:0.0:0.7715:0.2285	.	195;195	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	L	195	ENSP00000355569:S195L;ENSP00000355568:S195L	ENSP00000355568:S195L	S	-	2	0	IRF2BP2	232811280	0.276000	0.24211	0.989000	0.46669	0.746000	0.42486	2.218000	0.42889	1.366000	0.46076	0.637000	0.83480	TCG		0.766	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1		NM_182972		7	15	0	0	0	0.001984	0	7	15		
RYR2	6262	broad.mit.edu	37	1	237819236	237819236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:237819236C>T	ENST00000366574.2	+	53	8398	c.8081C>T	c.(8080-8082)tCa>tTa	p.S2694L	RYR2_ENST00000542537.1_Missense_Mutation_p.S2678L|RYR2_ENST00000360064.6_Missense_Mutation_p.S2692L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2694	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGTCATCAATGGATTCT	0.413																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8080-8082)TCA>TTA		cardiac muscle ryanodine receptor							72.0	72.0	72.0					1																	237819236		1862	4116	5978	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237819236C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8081C>T	1.37:g.237819236C>T	ENSP00000355533:p.Ser2694Leu						p.S2694L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8201	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2694			Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8081C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499239	0.85069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.18;-4.2	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000038	D	0.97745	0.9260	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	P	0.60345	0.873	D	0.97639	1.0147	10	0.59425	D	0.04	-10.8202	20.3789	0.98926	0.0:1.0:0.0:0.0	.	2694	Q92736	RYR2_HUMAN	L	2694;2692;2678	ENSP00000355533:S2694L;ENSP00000353174:S2692L;ENSP00000443798:S2678L	ENSP00000353174:S2692L	S	+	2	0	RYR2	235885859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.826000	0.97356	0.563000	0.77884	TCA		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		10	23	0	0	0	0.008291	0	10	23		
CNST	163882	broad.mit.edu	37	1	246811273	246811273	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246811273G>A	ENST00000366513.4	+	9	2039	c.1770G>A	c.(1768-1770)gaG>gaA	p.E590E	CNST_ENST00000366512.3_Silent_p.E590E|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	590					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTCTCCAGGAGAATCTGCCTT	0.403																																						uc001ibp.2		NaN																	0					0						c.(1768-1770)GAG>GAA		hypothetical protein LOC163882 isoform 1							90.0	95.0	93.0					1																	246811273		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811273G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1770G>A	1.37:g.246811273G>A						CNST_uc001ibo.3_Silent_p.E590E	p.E590E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	2148	+			590					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1770G>A	CCDS1628.1																																																																																				0.403	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609		31	85	0	0	0	0.001786	0	31	85		
SCCPDH	51097	broad.mit.edu	37	1	246923504	246923504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:246923504C>G	ENST00000366510.3	+	9	1341	c.965C>G	c.(964-966)tCa>tGa	p.S322*		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	322						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTATTTTTCAAAACAAGGC	0.299																																						uc001ibr.2		NaN																	0				ovary(1)	1						c.(964-966)TCA>TGA		saccharopine dehydrogenase (putative)							59.0	60.0	60.0					1																	246923504		2202	4297	6499	SO:0001587	stop_gained	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246923504C>G		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.965C>G	1.37:g.246923504C>G	ENSP00000355467:p.Ser322*						p.S322*	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	9	1312	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	322					Q8TAR0|Q9Y363	Nonsense_Mutation	SNP	ENST00000366510.3	37	c.965C>G	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	C	40	8.504831	0.98841	.	.	ENSG00000143653	ENST00000366510	.	.	.	5.58	5.58	0.84498	.	0.239180	0.44097	D	0.000492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5577	0.95358	0.0:1.0:0.0:0.0	.	.	.	.	X	322	.	ENSP00000355467:S322X	S	+	2	0	SCCPDH	244990127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.099000	0.76981	2.774000	0.95407	0.655000	0.94253	TCA		0.299	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2		NM_016002		23	38	0	0	0	0.005443	0	23	38		
OR6F1	343169	broad.mit.edu	37	1	247875277	247875277	+	Missense_Mutation	SNP	G	G	A	rs368539145		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:247875277G>A	ENST00000302084.2	-	1	828	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATAGAGGTGCGGACGTGAAGG	0.522																																						uc001idj.1		NaN																	0					0						c.(781-783)CGC>TGC		olfactory receptor, family 6, subfamily F,		G	CYS/ARG	0,4406		0,0,2203	98.0	94.0	95.0		781	0.6	0.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6F1	NM_001005286.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	261/309	247875277	1,13005	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875277G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.781C>T	1.37:g.247875277G>A	ENSP00000305640:p.Arg261Cys						p.R261C	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	781	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		261			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.781C>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109936	0.08780	0.0	1.16E-4	ENSG00000169214	ENST00000302084	T	0.35789	1.29	3.72	0.609	0.17575	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	N	0.001813	T	0.31389	0.0795	M	0.79926	2.475	0.09310	N	0.999997	P	0.35411	0.5	B	0.24974	0.057	T	0.28106	-1.0054	10	0.87932	D	0	-15.3921	5.837	0.18613	0.1892:0.1589:0.6519:0.0	.	261	Q8NGZ6	OR6F1_HUMAN	C	261	ENSP00000305640:R261C	ENSP00000305640:R261C	R	-	1	0	OR6F1	245941900	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.183000	0.03079	0.019000	0.15079	0.591000	0.81541	CGC		0.522	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1		NM_001005286		15	71	0	0	0	0.00245	0	15	71		
OR2T12	127064	broad.mit.edu	37	1	248458107	248458107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr1:248458107C>T	ENST00000317996.1	-	1	773	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTGGGTCTCATATAGGTAA	0.483																																						uc010pzj.1		NaN																	0				skin(2)|ovary(1)	3						c.(772-774)ATG>ATA		olfactory receptor, family 2, subfamily T,							114.0	113.0	114.0					1																	248458107		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458107C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.774G>A	1.37:g.248458107C>T	ENSP00000324583:p.Met258Ile						p.M258I	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	774	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.774G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	5.648	0.304188	0.10678	.	.	ENSG00000177201	ENST00000317996	T	0.34859	1.34	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001186	T	0.23133	0.0559	N	0.21583	0.68	0.09310	N	1	B	0.20052	0.041	B	0.29267	0.1	T	0.19679	-1.0298	10	0.52906	T	0.07	.	6.5863	0.22622	0.0:0.8313:0.0:0.1687	.	258	Q8NG77	O2T12_HUMAN	I	258	ENSP00000324583:M258I	ENSP00000324583:M258I	M	-	3	0	OR2T12	246524730	0.000000	0.05858	0.195000	0.23364	0.054000	0.15201	-0.117000	0.10708	0.645000	0.30675	0.175000	0.17021	ATG		0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692		27	126	0	0	0	0.003954	0	27	126		
OPTN	10133	broad.mit.edu	37	10	13154581	13154581	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:13154581C>G	ENST00000378748.3	+	6	860	c.498C>G	c.(496-498)ctC>ctG	p.L166L	OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378752.3_Silent_p.L166L|OPTN_ENST00000378764.2_Silent_p.L166L|OPTN_ENST00000263036.5_Silent_p.L166L|OPTN_ENST00000378757.2_Silent_p.L166L|OPTN_ENST00000378747.3_Silent_p.L166L	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	166	Interaction with Rab8.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AACTGCAGCTCAAGCTGAACT	0.498																																						uc001ilu.1		NaN																	0				ovary(2)	2						c.(496-498)CTC>CTG		optineurin							126.0	127.0	127.0					10																	13154581		2203	4300	6503	SO:0001819	synonymous_variant	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13154581C>G	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.498C>G	10.37:g.13154581C>G						OPTN_uc001ilv.1_Silent_p.L166L|OPTN_uc001ilw.1_Silent_p.L166L|OPTN_uc001ilx.1_Silent_p.L166L|OPTN_uc001ily.1_Silent_p.L166L|OPTN_uc010qbr.1_Silent_p.L109L|OPTN_uc001ilz.1_Silent_p.L166L	p.L166L	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN			6	936	+			166			Interaction with Rab8.|Potential.		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Silent	SNP	ENST00000378748.3	37	c.498C>G	CCDS7094.1																																																																																				0.498	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1		NM_021980		28	88	0	0	0	0.002096	0	28	88		
ACBD7	414149	broad.mit.edu	37	10	15121001	15121001	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:15121001C>T	ENST00000356189.5	-	2	98	c.51G>A	c.(49-51)ctG>ctA	p.L17L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	17	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						GTCTTGCTTTCAGCTTCCTCA	0.358																																						uc001inv.2		NaN																	0					0						c.(49-51)CTG>CTA		acyl-Coenzyme A binding domain containing 7							129.0	126.0	127.0					10																	15121001		2203	4300	6503	SO:0001819	synonymous_variant	414149						fatty-acyl-CoA binding	g.chr10:15121001C>T	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.51G>A	10.37:g.15121001C>T						ACBD7_uc010qby.1_5'UTR	p.L17L	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN			2	99	-			17			ACB.		A6NCI2|B3KTG8	Silent	SNP	ENST00000356189.5	37	c.51G>A	CCDS31153.1																																																																																				0.358	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2				33	93	0	0	0	0.007835	0	33	93		
MLLT10	8028	broad.mit.edu	37	10	22002839	22002839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:22002839C>T	ENST00000307729.7	+	14	2016	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S613L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S613L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S629L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	613	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTCTCCCTCAGCTGTGTCA	0.473			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2		NaN		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(1885-1887)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia							97.0	87.0	90.0					10																	22002839		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002839C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1838C>T	10.37:g.22002839C>T	ENSP00000307411:p.Ser613Leu					MLLT10_uc001iqt.2_Missense_Mutation_p.S613L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S613L|MLLT10_uc001ira.2_Missense_Mutation_p.S70L|MLLT10_uc001irb.2_RNA	p.S629L	NM_004641	NP_004632	P55197	AF10_HUMAN			15	2234	+			629			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1886C>T	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.560|9.560	1.118265|1.118265	0.20877|0.20877	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000420525|ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.|T;T;T;T	.|0.10005	.|2.92;2.92;2.92;2.92	6.03|6.03	4.11|4.11	0.48088|0.48088	.|.	.|0.353687	.|0.30602	.|N	.|0.009272	.|T	.|0.13329	.|0.0323	M|M	0.66939|0.66939	2.045|2.045	0.30464|0.30464	N|N	0.774018|0.774018	.|B;B;B;B	.|0.19200	.|0.021;0.034;0.002;0.001	.|B;B;B;B	.|0.15484	.|0.013;0.006;0.003;0.002	.|T	.|0.04440	.|-1.0951	.|10	.|0.51188	.|T	.|0.08	.|.	9.6141|9.6141	0.39681|0.39681	0.141:0.7829:0.0:0.0762|0.141:0.7829:0.0:0.0762	.|.	.|308;613;613;629	.|Q5HYC6;E9PBP4;Q5VX90;P55197	.|.;.;.;AF10_HUMAN	X|L	176|629;613;613;448;613;272;271	.|ENSP00000366272:S629L;ENSP00000401406:S613L;ENSP00000307411:S613L;ENSP00000366258:S613L	.|ENSP00000307411:S613L	Q|S	+|+	1|2	0|0	MLLT10|MLLT10	22042845|22042845	0.999000|0.999000	0.42202|0.42202	0.012000|0.012000	0.15200|0.15200	0.006000|0.006000	0.05464|0.05464	3.807000|3.807000	0.55591|0.55591	0.789000|0.789000	0.33779|0.33779	-0.182000|-0.182000	0.12963|0.12963	CAG|TCA		0.473	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1				20	78	0	0	0	0.001523	0	20	78		
C10orf67	256815	broad.mit.edu	37	10	23611391	23611391	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:23611391C>G	ENST00000323327.4	-	3	473	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	136										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						AAAGATTCCTCTTTCAGTCGG	0.348																																						uc010qcx.1		NaN																	0					0						c.(406-408)GAG>CAG		hypothetical protein LOC256815							93.0	93.0	93.0					10																	23611391		1846	4090	5936	SO:0001583	missense	256815							g.chr10:23611391C>G	BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.406G>C	10.37:g.23611391C>G	ENSP00000321464:p.Glu136Gln						p.E136Q	NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN			3	472	-			136					A8MUP9|Q5SWD4	Missense_Mutation	SNP	ENST00000323327.4	37	c.406G>C	CCDS44365.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041442	0.35989	.	.	ENSG00000179133	ENST00000376500;ENST00000323327	.	.	.	5.5	3.55	0.40652	.	0.182497	0.38217	N	0.001773	T	0.33118	0.0852	L	0.52364	1.645	0.26434	N	0.975889	P	0.46142	0.873	B	0.43225	0.412	T	0.19712	-1.0297	9	0.54805	T	0.06	-9.2615	9.0699	0.36486	0.1659:0.6741:0.16:0.0	.	136	Q8IYJ2	CJ067_HUMAN	Q	86;136	.	ENSP00000321464:E136Q	E	-	1	0	C10orf67	23651397	0.998000	0.40836	0.994000	0.49952	0.199000	0.23934	0.808000	0.27154	1.284000	0.44531	0.655000	0.94253	GAG		0.348	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1		NM_153714		16	103	0	0	0	0.006122	0	16	103		
SVIL	6840	broad.mit.edu	37	10	29820964	29820964	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:29820964G>T	ENST00000355867.4	-	9	2728	c.1976C>A	c.(1975-1977)cCt>cAt	p.P659H	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.P659H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	659					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAAGTTATAGGTTGGGTTCT	0.488																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1975-1977)CCT>CAT		supervillin isoform 2							125.0	123.0	124.0					10																	29820964		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29820964G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1976C>A	10.37:g.29820964G>T	ENSP00000348128:p.Pro659His					SVIL_uc001iuu.1_Intron	p.P659H	NM_021738	NP_068506	O95425	SVIL_HUMAN			9	2729	-		Breast(68;0.103)	659					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1976C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500402	0.85176	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.41400	1.0;1.0	5.41	5.41	0.78517	.	0.126290	0.53938	D	0.000057	T	0.65647	0.2711	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64833	-0.6314	9	.	.	.	-14.7344	19.2036	0.93720	0.0:0.0:1.0:0.0	.	659	O95425	SVIL_HUMAN	H	659	ENSP00000364547:P659H;ENSP00000348128:P659H	.	P	-	2	0	SVIL	29860970	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	8.950000	0.93019	2.552000	0.86080	0.655000	0.94253	CCT		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				18	139	1	0	1.15919e-05	0.008871	1.39568e-05	18	139		
ZNF33A	7581	broad.mit.edu	37	10	38306269	38306269	+	Missense_Mutation	SNP	G	G	A	rs582502	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:38306269G>A	ENST00000458705.2	+	4	363	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69K|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000374618.3_Missense_Mutation_p.E69K|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76K			Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAGGAGAAGAGCCATGGAA	0.433																																						uc001izh.2		NaN																	0				ovary(2)|skin(1)	3						c.(205-207)GAG>AAG		zinc finger protein 33A isoform b							157.0	153.0	154.0					10																	38306269		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38306269G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.205G>A	10.37:g.38306269G>A	ENSP00000387713:p.Glu69Lys					ZNF33A_uc001izg.2_Missense_Mutation_p.E69K|ZNF33A_uc010qev.1_Missense_Mutation_p.E76K|ZNF33A_uc001izi.1_Missense_Mutation_p.E69K|ZNF33A_uc001izj.2_RNA	p.E69K	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			4	383	+			69			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.205G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.866939	0.17250	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441;ENST00000265892	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	3.58	2.57	0.30868	Krueppel-associated box (2);	.	.	.	.	T	0.46639	0.1403	M	0.63169	1.94	0.22629	N	0.998915	D;P;D;D	0.61080	0.982;0.894;0.989;0.978	P;P;P;P	0.56042	0.765;0.576;0.681;0.79	T	0.25882	-1.0119	9	0.87932	D	0	.	7.5697	0.27900	0.0:0.0:0.7453:0.2547	rs582502;rs582502	76;69;69;69	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	K	69;76;69;69;69;29	ENSP00000363747:E69K;ENSP00000402467:E76K;ENSP00000387713:E69K;ENSP00000304268:E69K	ENSP00000265892:E29K	E	+	1	0	ZNF33A	38346275	1.000000	0.71417	0.981000	0.43875	0.189000	0.23516	2.293000	0.43558	2.010000	0.58986	0.462000	0.41574	GAG		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1		NM_006974		54	143	0	0	0	0.00361	0	54	143		
ZNF33B	7582	broad.mit.edu	37	10	43089326	43089326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43089326G>A	ENST00000359467.3	-	5	1186	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGATTACATTGAAAGTGTTTC	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NaN																	0					0						c.(1072-1074)CAA>TAA		zinc finger protein 33B							125.0	123.0	124.0					10																	43089326		2203	4300	6503	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089326G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1072C>T	10.37:g.43089326G>A	ENSP00000352444:p.Gln358*					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q246*|ZNF33B_uc001jad.2_Intron	p.Q358*	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1187	-			358			C2H2-type 2.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.1072C>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968895	0.92855	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.28	0.0628	0.14346	.	0.745300	0.11032	N	0.607090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5642	0.12175	0.0:0.1899:0.3301:0.48	.	.	.	.	X	358;324	.	ENSP00000352444:Q358X	Q	-	1	0	ZNF33B	42409332	0.000000	0.05858	0.991000	0.47740	0.930000	0.56654	-2.537000	0.00939	0.019000	0.15079	0.416000	0.27883	CAA		0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_006955		42	104	0	0	0	0.007835	0	42	104		
RET	5979	broad.mit.edu	37	10	43601965	43601965	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:43601965G>A	ENST00000355710.3	+	5	1241	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RET_ENST00000340058.5_Missense_Mutation_p.E337K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGGCCCAACGAGACCTCGGT	0.652		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1009-1011)GAG>AAG		ret proto-oncogene isoform a	Sunitinib(DB01268)						55.0	49.0	51.0					10																	43601965		2202	4300	6502	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43601965G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1009G>A	10.37:g.43601965G>A	ENSP00000347942:p.Glu337Lys					RET_uc001jak.1_Missense_Mutation_p.E337K|RET_uc010qez.1_Missense_Mutation_p.E83K	p.E337K	NM_020975	NP_066124	P07949	RET_HUMAN			5	1199	+		Ovarian(717;0.0423)	337			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1009G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365753	0.82463	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80123	-1.23;-1.34	5.32	4.42	0.53409	.	0.093174	0.64402	D	0.000001	D	0.86657	0.5985	M	0.63843	1.955	0.49051	D	0.999741	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.91635	0.994;0.814;0.999	D	0.85871	0.1416	10	0.41790	T	0.15	.	11.6203	0.51113	0.0854:0.0:0.9146:0.0	.	83;337;337	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	K	337	ENSP00000347942:E337K;ENSP00000344798:E337K	ENSP00000344798:E337K	E	+	1	0	RET	42921971	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	4.739000	0.62080	1.484000	0.48361	0.563000	0.77884	GAG		0.652	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		11	20	0	0	0	0.008291	0	11	20		
ALOX5	240	broad.mit.edu	37	10	45877975	45877975	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:45877975C>T	ENST00000374391.2	+	2	248	c.195C>T	c.(193-195)atC>atT	p.I65I	ALOX5_ENST00000542434.1_Silent_p.I65I	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	65	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGGCGAGATCCAGCTGGTCA	0.557																																						uc001jce.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(193-195)ATC>ATT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						157.0	118.0	131.0					10																	45877975		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45877975C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.195C>T	10.37:g.45877975C>T						ALOX5_uc009xmt.2_Silent_p.I65I|ALOX5_uc010qfg.1_Silent_p.I65I	p.I65I	NM_000698	NP_000689	P09917	LOX5_HUMAN			2	294	+		Lung SC(717;0.0257)	65			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.195C>T	CCDS7212.1																																																																																				0.557	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1				17	53	0	0	0	0.007413	0	17	53		
ERCC6	2074	broad.mit.edu	37	10	50690842	50690842	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:50690842G>C	ENST00000355832.5	-	10	2138	c.2060C>G	c.(2059-2061)tCg>tGg	p.S687W	ERCC6_ENST00000542458.1_Missense_Mutation_p.S57W	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	687	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		S -> L (in CSB). {ECO:0000269|PubMed:19894250}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCAAAGAGCGACCACAGCTC	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(2059-2061)TCG>TGG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							106.0	99.0	102.0					10																	50690842		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690842G>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2060C>G	10.37:g.50690842G>C	ENSP00000348089:p.Ser687Trp					ERCC6_uc010qgr.1_Missense_Mutation_p.S57W|ERCC6_uc001jhr.3_Missense_Mutation_p.S87W	p.S687W	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			10	2214	-			687		S -> L (in CSB).	Helicase ATP-binding.		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2060C>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947094	0.92593	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.94613	-3.47;-3.47	5.68	5.68	0.88126	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.98717	0.9569	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99490	1.0950	9	0.87932	D	0	-11.4287	17.9728	0.89118	0.0:0.0:1.0:0.0	.	687;96	Q03468;Q59FF6	ERCC6_HUMAN;.	W	687;96;57	ENSP00000348089:S687W;ENSP00000445134:S57W	ENSP00000348089:S687W	S	-	2	0	ERCC6	50360848	1.000000	0.71417	0.984000	0.44739	0.871000	0.50021	9.869000	0.99810	2.693000	0.91896	0.655000	0.94253	TCG		0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		35	64	0	0	0	0.004878	0	35	64		
TFAM	7019	broad.mit.edu	37	10	60145995	60145995	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:60145995G>A	ENST00000487519.1	+	2	643	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TFAM_ENST00000373895.3_Silent_p.P39P|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	39					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGTATTTACCGAGGTGGTTTT	0.338																																						uc001jkf.2		NaN																	0					0						c.(115-117)CCG>CCA		transcription factor A, mitochondrial precursor							164.0	167.0	166.0					10																	60145995		2203	4300	6503	SO:0001819	synonymous_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60145995G>A	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.117G>A	10.37:g.60145995G>A						TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.P39P	p.P39P	NM_003201	NP_003192	Q00059	TFAM_HUMAN			2	249	+			39					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.117G>A	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.942239	0.02322	.	.	ENSG00000108064	ENST00000395377	.	.	.	5.64	-2.61	0.06171	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31888	-0.9927	4	.	.	.	.	6.1664	0.20392	0.5188:0.137:0.3441:0.0	.	.	.	.	K	21	.	.	E	+	1	0	TFAM	59816001	0.000000	0.05858	0.013000	0.15412	0.049000	0.14656	-0.260000	0.08708	-0.464000	0.06963	-0.140000	0.14226	GAG		0.338	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1		NM_003201		27	70	0	0	0	0.007291	0	27	70		
MYPN	84665	broad.mit.edu	37	10	69926110	69926110	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:69926110G>A	ENST00000358913.5	+	10	2148	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	MYPN_ENST00000540630.1_Missense_Mutation_p.A554T|MYPN_ENST00000354393.2_Missense_Mutation_p.A279T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	554					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CACCAACCTGGCAGCTATTGA	0.552																																						uc001jnm.3		NaN																	0				ovary(3)|skin(2)	5						c.(1660-1662)GCA>ACA		myopalladin							82.0	69.0	73.0					10																	69926110		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926110G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1660G>A	10.37:g.69926110G>A	ENSP00000351790:p.Ala554Thr					MYPN_uc001jnl.1_Missense_Mutation_p.A554T|MYPN_uc001jnn.3_Missense_Mutation_p.A279T|MYPN_uc001jno.3_Missense_Mutation_p.A554T|MYPN_uc009xps.2_Missense_Mutation_p.A554T|MYPN_uc009xpt.2_Missense_Mutation_p.A554T|MYPN_uc010qit.1_Missense_Mutation_p.A260T|MYPN_uc010qiu.1_RNA	p.A554T	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			11	1845	+			554					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1660G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	5.542	0.284932	0.10513	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57752	0.38;0.44;0.42	5.29	1.64	0.23874	.	0.763215	0.12829	N	0.435743	T	0.29158	0.0725	N	0.17082	0.46	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.001	T	0.14924	-1.0455	9	.	.	.	.	3.3692	0.07215	0.1688:0.1379:0.5533:0.14	.	554;279;554	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	T	279;279;554;554	ENSP00000346369:A279T;ENSP00000351790:A554T;ENSP00000441668:A554T	.	A	+	1	0	MYPN	69596116	0.126000	0.22350	0.709000	0.30452	0.704000	0.40688	0.264000	0.18497	0.495000	0.27882	0.655000	0.94253	GCA		0.552	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1		NM_032578		11	56	0	0	0	0.001855	0	11	56		
TET1	80312	broad.mit.edu	37	10	70412289	70412289	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412289G>A	ENST00000373644.4	+	6	4608	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1467					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATAAGGATAGAAATAGTAGT	0.363																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4399-4401)GAA>AAA		CXXC finger 6							113.0	114.0	114.0					10																	70412289		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70412289G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4399G>A	10.37:g.70412289G>A	ENSP00000362748:p.Glu1467Lys						p.E1467K	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			6	4904	+			1467					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4399G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	36	5.616402	0.96649	.	.	ENSG00000138336	ENST00000373644	T	0.38722	1.12	5.84	5.84	0.93424	TET cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.75884	2.315	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	T	0.68934	-0.5278	10	0.87932	D	0	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	1467	Q8NFU7	TET1_HUMAN	K	1467	ENSP00000362748:E1467K	ENSP00000362748:E1467K	E	+	1	0	TET1	70082295	1.000000	0.71417	0.991000	0.47740	0.928000	0.56348	9.193000	0.94954	2.767000	0.95098	0.555000	0.69702	GAA		0.363	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		19	46	0	0	0	0.00278	0	19	46		
TET1	80312	broad.mit.edu	37	10	70412337	70412337	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70412337C>G	ENST00000373644.4	+	6	4656	c.4447C>G	c.(4447-4449)Cca>Gca	p.P1483A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1483					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCATGGGTGTCCAATTGCTAA	0.348																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4447-4449)CCA>GCA		CXXC finger 6							116.0	116.0	116.0					10																	70412337		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70412337C>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4447C>G	10.37:g.70412337C>G	ENSP00000362748:p.Pro1483Ala						p.P1483A	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			6	4952	+			1483					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4447C>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997979	0.93227	.	.	ENSG00000138336	ENST00000373644	T	0.52057	0.68	5.84	5.84	0.93424	TET cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.75884	2.315	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.72833	-0.4173	10	0.87932	D	0	.	20.1579	0.98126	0.0:1.0:0.0:0.0	.	1483	Q8NFU7	TET1_HUMAN	A	1483	ENSP00000362748:P1483A	ENSP00000362748:P1483A	P	+	1	0	TET1	70082343	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.294000	0.78760	2.767000	0.95098	0.555000	0.69702	CCA		0.348	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		12	46	0	0	0	0.001855	0	12	46		
DDX21	9188	broad.mit.edu	37	10	70719870	70719870	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:70719870G>A	ENST00000354185.4	+	2	494	c.396G>A	c.(394-396)aaG>aaA	p.K132K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	132					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.K132K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCCCAAGAAGATGAAGAAAG	0.408																																						uc001jov.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(394-396)AAG>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							34.0	38.0	37.0					10																	70719870		2202	4300	6502	SO:0001819	synonymous_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70719870G>A	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.396G>A	10.37:g.70719870G>A						DDX21_uc001jow.1_Silent_p.K64K	p.K132K	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			2	486	+			132					B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	c.396G>A	CCDS31211.1																																																																																				0.408	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1		NM_004728		11	42	0	0	0	0.008291	0	11	42		
FUT11	170384	broad.mit.edu	37	10	75532615	75532615	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:75532615C>G	ENST00000372841.3	+	1	567	c.524C>G	c.(523-525)tCg>tGg	p.S175W	FUT11_ENST00000394790.1_Missense_Mutation_p.S175W|FUT11_ENST00000465695.1_3'UTR|AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	175					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					AGTCGCCACTCGGATTACCCG	0.687																																						uc001jva.2		NaN																	0					0						c.(523-525)TCG>TGG		fucosyltransferase 11 (alpha (1,3)							22.0	24.0	24.0					10																	75532615		2037	4053	6090	SO:0001583	missense	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75532615C>G	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.524C>G	10.37:g.75532615C>G	ENSP00000361932:p.Ser175Trp					FUT11_uc001juy.1_Missense_Mutation_p.S175W|FUT11_uc001juz.1_Missense_Mutation_p.S175W	p.S175W	NM_173540	NP_775811	Q495W5	FUT11_HUMAN			1	567	+	Prostate(51;0.0112)		175			Lumenal (Potential).		Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	c.524C>G	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212480	0.79240	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.47177	0.85;0.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85824	0.1387	10	0.87932	D	0	-25.9082	19.0801	0.93178	0.0:1.0:0.0:0.0	.	175;175;175	Q495W5;Q495W5-2;B2RC53	FUT11_HUMAN;.;.	W	175	ENSP00000361932:S175W;ENSP00000378270:S175W	ENSP00000361932:S175W	S	+	2	0	FUT11	75202621	1.000000	0.71417	0.996000	0.52242	0.473000	0.32948	7.732000	0.84908	2.523000	0.85059	0.462000	0.41574	TCG		0.687	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1		NM_173540		16	36	0	0	0	0.006122	0	16	36		
DUPD1	338599	broad.mit.edu	37	10	76803619	76803619	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:76803619G>C	ENST00000338487.5	-	2	356	c.357C>G	c.(355-357)ttC>ttG	p.F119L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	119	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F119F(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CACTGAGGTCGAAGGTGGGCA	0.677																																						uc001jwq.1		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(2)	2						c.(355-357)TTC>TTG		dual specificity phosphatase and pro isomerase							95.0	86.0	89.0					10																	76803619		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803619G>C		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.357C>G	10.37:g.76803619G>C	ENSP00000340609:p.Phe119Leu						p.F119L	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			2	357	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		119			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.357C>G	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153452	0.78114	.	.	ENSG00000188716	ENST00000338487	T	0.60171	0.21	4.93	3.08	0.35506	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.93197	3.39	0.47994	D	0.999568	D	0.89917	1.0	D	0.91635	0.999	T	0.78226	-0.2286	10	0.72032	D	0.01	-22.5577	7.6179	0.28169	0.327:0.0:0.673:0.0	.	119	Q68J44	DUPD1_HUMAN	L	119	ENSP00000340609:F119L	ENSP00000340609:F119L	F	-	3	2	DUPD1	76473625	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	0.995000	0.29706	0.489000	0.27749	0.650000	0.86243	TTC		0.677	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2		XM_291741		18	68	0	0	0	0.007413	0	18	68		
PAPSS2	9060	broad.mit.edu	37	10	89501082	89501082	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:89501082C>T	ENST00000361175.4	+	9	1531	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	PAPSS2_ENST00000456849.1_Silent_p.L393L|PAPSS2_ENST00000427144.2_Silent_p.L392L	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	388					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCAATACCGTCTGACACCTCT	0.408																																						uc001kex.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1162-1164)CTG>TTG		3'-phosphoadenosine 5'-phosphosulfate synthase 2							163.0	147.0	152.0					10																	89501082		2203	4300	6503	SO:0001819	synonymous_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89501082C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1162C>T	10.37:g.89501082C>T						PAPSS2_uc001kew.2_Silent_p.L393L	p.L388L	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	9	1425	+		Melanoma(5;0.019)|Colorectal(252;0.123)	388			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	c.1162C>T	CCDS7385.1																																																																																				0.408	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1				9	76	0	0	0	0.006214	0	9	76		
IFIT3	3437	broad.mit.edu	37	10	91099478	91099478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:91099478G>A	ENST00000371818.4	+	2	1246	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	IFIT3_ENST00000371811.4_Missense_Mutation_p.E356K|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	356					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CCCTGATGCTGAAAAGCAACA	0.453																																						uc001kgf.2		NaN																	0				central_nervous_system(1)	1						c.(1066-1068)GAA>AAA		interferon-induced protein with							82.0	77.0	78.0					10																	91099478		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099478G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1066G>A	10.37:g.91099478G>A	ENSP00000360883:p.Glu356Lys					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.E356K	p.E356K	NM_001549	NP_001540	O14879	IFIT3_HUMAN			2	1295	+			356					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1066G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.874	0.530566	0.13127	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.14144	2.53;2.53	4.48	1.65	0.23941	.	0.562628	0.18794	N	0.130969	T	0.07818	0.0196	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.41787	-0.9489	10	0.07644	T	0.81	-2.561	9.0718	0.36497	0.2499:0.0:0.7501:0.0	.	356	O14879	IFIT3_HUMAN	K	356;356;177	ENSP00000360883:E356K;ENSP00000360876:E356K	ENSP00000360876:E356K	E	+	1	0	IFIT3	91089458	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.442000	0.21628	0.406000	0.25560	0.655000	0.94253	GAA		0.453	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1		NM_001549		27	38	0	0	0	0.003954	0	27	38		
CPN1	1369	broad.mit.edu	37	10	101841262	101841262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:101841262C>G	ENST00000370418.3	-	1	372	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	41	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597																																						uc001kql.2		NaN																	0				central_nervous_system(3)|pancreas(1)	4						c.(121-123)GAA>CAA		carboxypeptidase N, polypeptide 1 precursor							76.0	66.0	70.0					10																	101841262		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101841262C>G	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.121G>C	10.37:g.101841262C>G	ENSP00000359446:p.Glu41Gln						p.E41Q	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	381	-		Colorectal(252;0.234)	41			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.121G>C	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316226	0.23908	.	.	ENSG00000120054	ENST00000370418	T	0.10477	2.87	5.45	3.54	0.40534	Peptidase M14, carboxypeptidase A (2);	0.160456	0.53938	N	0.000045	T	0.06142	0.0159	N	0.13168	0.305	0.41578	D	0.988725	B	0.11235	0.004	B	0.12156	0.007	T	0.22208	-1.0223	10	0.08179	T	0.78	-10.0074	12.8936	0.58087	0.1044:0.3247:0.5709:0.0	.	41	P15169	CBPN_HUMAN	Q	41	ENSP00000359446:E41Q	ENSP00000359446:E41Q	E	-	1	0	CPN1	101831252	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	1.111000	0.31159	0.605000	0.29947	0.555000	0.69702	GAA		0.597	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1		NM_001308		21	36	0	0	0	0.001882	0	21	36		
PKD2L1	9033	broad.mit.edu	37	10	102089772	102089772	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:102089772G>A	ENST00000318222.3	-	1	471	c.89C>T	c.(88-90)tCc>tTc	p.S30F	PKD2L1_ENST00000338519.3_Missense_Mutation_p.S30F|PKD2L1_ENST00000353274.3_Missense_Mutation_p.S30F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	30					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCGTGTGGGGAAGGGGGACC	0.622																																						uc001kqx.1		NaN																	0				ovary(4)	4						c.(88-90)TCC>TTC		polycystic kidney disease 2-like 1							68.0	74.0	72.0					10																	102089772		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102089772G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.89C>T	10.37:g.102089772G>A	ENSP00000325296:p.Ser30Phe					PKD2L1_uc009xwm.1_5'UTR	p.S30F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	1	472	-		Colorectal(252;0.117)	30			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.89C>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506343	0.85282	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60548	0.37;0.18;0.23	5.61	5.61	0.85477	.	0.312246	0.29924	N	0.010856	T	0.66396	0.2785	L	0.57536	1.79	0.34358	D	0.690648	D	0.56035	0.974	P	0.52267	0.694	T	0.76934	-0.2775	10	0.72032	D	0.01	-15.319	17.1335	0.86733	0.0:0.0:1.0:0.0	.	30	Q9P0L9	PK2L1_HUMAN	F	30	ENSP00000345068:S30F;ENSP00000266049:S30F;ENSP00000325296:S30F	ENSP00000325296:S30F	S	-	2	0	PKD2L1	102079762	1.000000	0.71417	0.381000	0.26106	0.122000	0.20287	6.864000	0.75494	2.650000	0.89964	0.655000	0.94253	TCC		0.622	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112		39	80	0	0	0	0.002222	0	39	80		
CNNM2	54805	broad.mit.edu	37	10	104678701	104678701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104678701C>G	ENST00000369878.4	+	1	652	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CNNM2_ENST00000369875.3_Nonsense_Mutation_p.S155*|CNNM2_ENST00000433628.2_Nonsense_Mutation_p.S155*	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	155					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCCGCACCTCAGACATCATC	0.677																																						uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(463-465)TCA>TGA		cyclin M2 isoform 1							96.0	107.0	103.0					10																	104678701		2202	4299	6501	SO:0001587	stop_gained	54805				ion transport	integral to membrane		g.chr10:104678701C>G	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.464C>G	10.37:g.104678701C>G	ENSP00000358894:p.Ser155*					CNNM2_uc001kwn.2_Nonsense_Mutation_p.S155*|CNNM2_uc001kwl.2_Nonsense_Mutation_p.S155*	p.S155*	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	588	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	155					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Nonsense_Mutation	SNP	ENST00000369878.4	37	c.464C>G	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398687	0.97533	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.51	0.87757	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000286899:S155X	S	+	2	0	CNNM2	104668691	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.616000	0.67709	2.216000	0.71823	0.561000	0.74099	TCA		0.677	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		28	196	0	0	0	0.004656	0	28	196		
CNNM2	54805	broad.mit.edu	37	10	104816644	104816644	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:104816644G>A	ENST00000369878.4	+	4	2184	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CNNM2_ENST00000433628.2_Missense_Mutation_p.E666K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	666					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAATATGATGAGAAGAACAA	0.433																																						uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1996-1998)GAG>AAG		cyclin M2 isoform 1							116.0	126.0	123.0					10																	104816644		2112	4264	6376	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104816644G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1996G>A	10.37:g.104816644G>A	ENSP00000358894:p.Glu666Lys					CNNM2_uc001kwn.2_Missense_Mutation_p.E666K	p.E666K	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	4	2120	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	666					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1996G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361759	0.82353	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T	0.73789	-0.78	5.83	5.83	0.93111	RmlC-like jelly roll fold (1);	0.100413	0.64402	D	0.000002	T	0.70937	0.3281	L	0.43598	1.365	0.80722	D	1	P;P	0.40970	0.734;0.615	B;B	0.38755	0.281;0.146	T	0.71902	-0.4452	10	0.48119	T	0.1	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	666;666	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	K	667;667;666;666	ENSP00000358894:E666K	ENSP00000286899:E666K	E	+	1	0	CNNM2	104806634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.763000	0.94921	0.561000	0.74099	GAG		0.433	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		35	98	0	0	0	0.005524	0	35	98		
ABLIM1	3983	broad.mit.edu	37	10	116307536	116307536	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:116307536C>G	ENST00000277895.5	-	5	771		c.e5-1		ABLIM1_ENST00000369252.4_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCGGCACAATCTGAAAAAGAG	0.522																																						uc010qsg.1		NaN																	0				breast(1)	1						c.e5-1		actin-binding LIM protein 1 isoform a							22.0	24.0	23.0					10																	116307536		2203	4300	6503	SO:0001630	splice_region_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307536C>G	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.674-1G>C	10.37:g.116307536C>G						ABLIM1_uc010qsh.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsi.1_Splice_Site_p.N165_splice|ABLIM1_uc010qsk.1_Splice_Site_p.N149_splice|ABLIM1_uc009xyp.2_Splice_Site_p.N159_splice|ABLIM1_uc009xyo.2_Splice_Site_p.N73_splice	p.N225_splice	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	773	-		Colorectal(252;0.0373)|Breast(234;0.231)						A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Splice_Site	SNP	ENST00000277895.5	37	c.674_splice	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908498	0.52333	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392955;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7538	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABLIM1	116297526	1.000000	0.71417	0.978000	0.43139	0.271000	0.26615	7.640000	0.83355	2.690000	0.91761	0.655000	0.94253	.		0.522	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			Intron	8	32	0	0	0	0.004482	0	8	32		
MCMBP	79892	broad.mit.edu	37	10	121586615	121586615	+	IGR	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:121586615C>G	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.L908V|INPP5F_ENST00000369080.3_Missense_Mutation_p.L298V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTCCCAGTCTCTTAGCAGCAC	0.488																																						uc001leo.2		NaN																	0				ovary(2)	2						c.(2722-2724)CTT>GTT		inositol polyphosphate-5-phosphatase F							128.0	103.0	111.0					10																	121586615		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586615C>G	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586615C>G						INPP5F_uc001lep.2_Missense_Mutation_p.L298V	p.L908V	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2888	+		Lung NSC(174;0.109)|all_lung(145;0.142)	908					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2722C>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.330735	0.00227	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.38240	1.37;1.15	5.92	-11.8	0.00035	.	0.531595	0.21238	N	0.077870	T	0.13457	0.0326	N	0.11427	0.14	0.26885	N	0.967444	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29852	-0.9998	10	0.05525	T	0.97	0.1127	19.4697	0.94958	0.1174:0.2774:0.6052:0.0	.	298;908	Q5W135;Q9Y2H2	.;SAC2_HUMAN	V	908;298	ENSP00000354519:L908V;ENSP00000358076:L298V	ENSP00000354519:L908V	L	+	1	0	INPP5F	121576605	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.061000	0.03472	-3.638000	0.00128	-1.289000	0.01358	CTT		0.488	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1		NM_024834		14	68	0	0	0	0.001855	0	14	68		
TACC2	10579	broad.mit.edu	37	10	123844900	123844900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:123844900C>G	ENST00000369005.1	+	4	3225	c.2885C>G	c.(2884-2886)tCg>tGg	p.S962W	TACC2_ENST00000515603.1_Missense_Mutation_p.S962W|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S962W|TACC2_ENST00000453444.2_Missense_Mutation_p.S962W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S962W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	962					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCGAGGGTCTCGCCTCCAGCA	0.537																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2884-2886)TCG>TGG		transforming, acidic coiled-coil containing							81.0	85.0	84.0					10																	123844900		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844900C>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2885C>G	10.37:g.123844900C>G	ENSP00000358001:p.Ser962Trp					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.S962W|TACC2_uc010qtv.1_Missense_Mutation_p.S962W	p.S962W	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3245	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	962					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2885C>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360074	0.41801	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04015	3.78;3.74;3.73;3.78;3.74	5.07	1.14	0.20703	.	1.250390	0.06161	N	0.675920	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.997	D;P;P	0.66602	0.945;0.908;0.908	T	0.29027	-1.0025	10	0.87932	D	0	1.1231	1.3502	0.02171	0.1512:0.4502:0.147:0.2517	.	962;962;962	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	W	962;962;962;962;962;952	ENSP00000358001:S962W;ENSP00000424467:S962W;ENSP00000427618:S962W;ENSP00000334280:S962W;ENSP00000395048:S962W	ENSP00000334280:S962W	S	+	2	0	TACC2	123834890	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.805000	0.04530	0.049000	0.15920	0.549000	0.68633	TCG		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				34	78	0	0	0	0.002836	0	34	78		
DMBT1	1755	broad.mit.edu	37	10	124380654	124380654	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124380654C>T	ENST00000338354.3	+	41	5085	c.4979C>T	c.(4978-4980)tCc>tTc	p.S1660F	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1032F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1650F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1660F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1032F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1650F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1660	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATCGAGGCTCCTGGGGAACC	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(4978-4980)TCC>TTC		deleted in malignant brain tumors 1 isoform b							248.0	247.0	247.0					10																	124380654		2025	4188	6213	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380654C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4979C>T	10.37:g.124380654C>T	ENSP00000342210:p.Ser1660Phe					DMBT1_uc001lgl.1_Missense_Mutation_p.S1650F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1032F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1660F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S363F|DMBT1_uc009yac.1_5'UTR	p.S1660F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			41	5085	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1660			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.4979C>T		.	.	.	.	.	.	.	.	.	.	-	11.19	1.564905	0.27915	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	3.79	3.79	0.43588	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	6.029080	0.00589	U	0.000349	T	0.67795	0.2931	M	0.84585	2.705	0.09310	N	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.965;0.997	D;D;D;P;D	0.97110	0.996;1.0;0.996;0.66;0.986	T	0.40701	-0.9549	10	0.72032	D	0.01	.	10.8567	0.46802	0.3119:0.6881:0.0:0.0	.	909;1789;1032;1650;1660	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	F	1660;1789;1660;1660;1660;1660;1032;1650;1032;1032;1660;1650;1032	ENSP00000342210:S1660F;ENSP00000343175:S1650F;ENSP00000327747:S1032F;ENSP00000357905:S1660F;ENSP00000357951:S1650F;ENSP00000357952:S1032F	ENSP00000331522:S1032F	S	+	2	0	DMBT1	124370644	0.000000	0.05858	0.994000	0.49952	0.345000	0.29048	-2.051000	0.01402	2.068000	0.61886	0.461000	0.40582	TCC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		101	231	0	0	0	0.00361	0	101	231		
DMBT1	1755	broad.mit.edu	37	10	124390773	124390773	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:124390773G>A	ENST00000338354.3	+	46	6041	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	DMBT1_ENST00000368956.2_Missense_Mutation_p.E1351K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E699K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1969K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1979K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1351K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1969K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1979	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAATCATCGTGAAGATGCTGG	0.537																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(5935-5937)GAA>AAA		deleted in malignant brain tumors 1 isoform b							143.0	137.0	139.0					10																	124390773		2051	4204	6255	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390773G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5935G>A	10.37:g.124390773G>A	ENSP00000342210:p.Glu1979Lys					DMBT1_uc001lgl.1_Missense_Mutation_p.E1969K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1351K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1979K|DMBT1_uc010qtx.1_Missense_Mutation_p.E699K|DMBT1_uc009yab.1_Missense_Mutation_p.E682K|DMBT1_uc009yac.1_Missense_Mutation_p.E273K	p.E1979K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			46	6041	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1979			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5935G>A		.	.	.	.	.	.	.	.	.	.	G	16.70	3.195601	0.58126	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.56	3.69	0.42338	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.71022	0.3291	M	0.88377	2.95	0.40836	D	0.98363	D;D;P;D;P;D;D	0.89917	0.97;0.999;0.952;1.0;0.459;0.976;0.958	D;D;P;D;B;D;P	0.91635	0.933;0.997;0.678;0.999;0.19;0.937;0.841	T	0.75172	-0.3411	9	0.62326	D	0.03	.	11.4461	0.50125	0.0682:0.1262:0.8056:0.0	.	699;1959;1228;2108;1351;1969;1979	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	1979;2108;1979;1979;1979;1979;1351;1969;1351;1351;1979;1969;1351;125;699	ENSP00000342210:E1979K;ENSP00000343175:E1969K;ENSP00000327747:E1351K;ENSP00000357905:E1979K;ENSP00000357951:E1969K;ENSP00000357952:E1351K;ENSP00000352593:E699K	ENSP00000331522:E1351K	E	+	1	0	DMBT1	124380763	0.998000	0.40836	0.023000	0.16930	0.045000	0.14185	2.698000	0.47068	0.704000	0.31869	-0.181000	0.13052	GAA		0.537	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		30	139	0	0	0	0.003271	0	30	139		
DHX32	55760	broad.mit.edu	37	10	127542652	127542652	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:127542652C>T	ENST00000284690.3	-	4	1460	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	324						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTCTGTTTCATCGAGTGGC	0.388																																						uc001ljf.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(970-972)GAA>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							147.0	146.0	146.0					10																	127542652		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127542652C>T		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.970G>A	10.37:g.127542652C>T	ENSP00000284690:p.Glu324Lys					DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.E324K|DHX32_uc009yam.1_Intron	p.E324K	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			4	1461	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	324					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.970G>A	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494152	0.44352	.	.	ENSG00000089876	ENST00000284690	T	0.02631	4.22	5.84	5.84	0.93424	.	0.459034	0.24096	N	0.041581	T	0.05090	0.0136	L	0.55834	1.745	0.80722	D	1	B	0.24258	0.1	B	0.24541	0.054	T	0.23691	-1.0181	10	0.62326	D	0.03	-14.4035	14.325	0.66512	0.0:0.9271:0.0:0.0729	.	324	Q7L7V1	DHX32_HUMAN	K	324	ENSP00000284690:E324K	ENSP00000284690:E324K	E	-	1	0	DHX32	127532642	0.961000	0.32948	0.087000	0.20705	0.702000	0.40608	3.549000	0.53681	2.763000	0.94921	0.650000	0.86243	GAA		0.388	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2		NM_018180		13	106	0	0	0	0.00245	0	13	106		
MKI67	4288	broad.mit.edu	37	10	129903899	129903899	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129903899C>G	ENST00000368654.3	-	13	6580	c.6205G>C	c.(6205-6207)Gag>Cag	p.E2069Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1709Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2069	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTGGGCCTCTTCCTTAGGT	0.483																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6205-6207)GAG>CAG		antigen identified by monoclonal antibody Ki-67							255.0	246.0	249.0					10																	129903899		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903899C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6205G>C	10.37:g.129903899C>G	ENSP00000357643:p.Glu2069Gln					MKI67_uc001lkf.2_Missense_Mutation_p.E1709Q|MKI67_uc009yav.1_Missense_Mutation_p.E1644Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1219Q	p.E2069Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6400	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2069			16 X 122 AA approximate repeats.|9.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6205G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260631	0.39995	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02216	4.39;4.39	4.85	-0.397	0.12423	.	1.007710	0.07985	N	0.986172	T	0.02267	0.0070	L	0.44542	1.39	0.09310	N	1	B;B;B	0.32893	0.337;0.337;0.389	B;B;B	0.32465	0.09;0.09;0.146	T	0.48990	-0.8985	10	0.18710	T	0.47	.	5.2619	0.15578	0.0:0.1982:0.1453:0.6565	.	2068;1709;2069	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2069;1709;2068	ENSP00000357643:E2069Q;ENSP00000357642:E1709Q	ENSP00000357642:E1709Q	E	-	1	0	MKI67	129793889	0.089000	0.21612	0.000000	0.03702	0.003000	0.03518	1.260000	0.32968	-0.259000	0.09432	-0.136000	0.14681	GAG		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		64	320	0	0	0	0.00361	0	64	320		
MKI67	4288	broad.mit.edu	37	10	129904445	129904445	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr10:129904445C>G	ENST00000368654.3	-	13	6034	c.5659G>C	c.(5659-5661)Gag>Cag	p.E1887Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1527Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1887	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5659-5661)GAG>CAG		antigen identified by monoclonal antibody Ki-67							278.0	279.0	279.0					10																	129904445		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904445C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5659G>C	10.37:g.129904445C>G	ENSP00000357643:p.Glu1887Gln					MKI67_uc001lkf.2_Missense_Mutation_p.E1527Q|MKI67_uc009yav.1_Missense_Mutation_p.E1462Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1037Q	p.E1887Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5854	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1887			16 X 122 AA approximate repeats.|8.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5659G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253438	0.10185	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02258	4.37;4.37	2.96	-5.92	0.02261	.	3.999860	0.01201	U	0.007564	T	0.03520	0.0101	L	0.39020	1.185	0.09310	N	1	B;P;D	0.57257	0.05;0.669;0.979	B;B;P	0.57846	0.019;0.284;0.828	T	0.46190	-0.9209	10	0.13853	T	0.58	.	1.5332	0.02539	0.1182:0.2278:0.3092:0.3448	.	1886;1527;1887	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1887;1527;1886	ENSP00000357643:E1887Q;ENSP00000357642:E1527Q	ENSP00000357642:E1527Q	E	-	1	0	MKI67	129794435	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.705000	0.00821	-1.440000	0.01960	-0.291000	0.09656	GAG		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		42	346	0	0	0	0.00874	0	42	346		
CDHR5	53841	broad.mit.edu	37	11	618014	618014	+	Silent	SNP	G	G	A	rs377660837		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:618014G>A	ENST00000358353.3	-	15	2380	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.L686L|CDHR5_ENST00000349570.7_Silent_p.L492L|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397562.3_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	686					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAAGGACGGCGAGGCCAAGGA	0.682																																						uc001lqj.2		NaN																	0					0						c.(2056-2058)CTC>CTT		mucin and cadherin-like isoform 1							53.0	50.0	51.0					11																	618014		2199	4300	6499	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618014G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2058C>T	11.37:g.618014G>A						IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.L492L|CDHR5_uc009ycc.2_Silent_p.L520L|CDHR5_uc009ycd.2_Silent_p.L680L|CDHR5_uc001lql.2_Silent_p.L686L	p.L686L	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			14	2163	-			686			Helical; (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2058C>T	CCDS7707.1																																																																																				0.682	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		7	27	0	0	0	0.001984	0	7	27		
MUC5AC	4586	broad.mit.edu	37	11	1157932	1157932	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:1157932C>G	ENST00000356191.2	+	13	990	c.990C>G	c.(988-990)ttC>ttG	p.F330L				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	333					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCCCTGACTTCTGCCGTGAGT	0.687																																						uc009ycr.1		NaN																	0					0						c.(997-999)TTC>TTG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							44.0	47.0	46.0					11																	1157932		875	1989	2864	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1157932C>G	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.990C>G	11.37:g.1157932C>G	ENSP00000348519:p.Phe330Leu						p.F333L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	9	1125	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.999C>G		.	.	.	.	.	.	.	.	.	.	c	0.011	-1.724894	0.00694	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.76060	-0.99;-0.99	2.79	0.384	0.16244	.	.	.	.	.	T	0.42988	0.1227	N	0.04994	-0.135	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44251	-0.9340	8	0.02654	T	1	.	4.5215	0.11960	0.1239:0.2057:0.5595:0.1109	.	333	A7Y9J9	.	L	333;330	ENSP00000435591:F333L;ENSP00000348519:F330L	ENSP00000348519:F330L	F	+	3	2	MUC5AC	1147932	0.345000	0.24835	0.900000	0.35374	0.338000	0.28826	-0.458000	0.06737	0.067000	0.16545	0.436000	0.28706	TTC		0.687	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_001130382		8	47	0	0	0	0.006214	0	8	47		
TRIM3	10612	broad.mit.edu	37	11	6470362	6470362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6470362C>T	ENST00000525074.1	-	12	2525	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	TRIM3_ENST00000345851.3_Missense_Mutation_p.E711K|TRIM3_ENST00000537602.1_Missense_Mutation_p.E633K|TRIM3_ENST00000536344.1_Missense_Mutation_p.E592K|TRIM3_ENST00000359518.3_Missense_Mutation_p.E711K	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	711					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAGTGGTTCTGCAGATGTG	0.547																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NaN																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(2131-2133)GAA>AAA		tripartite motif-containing 3							100.0	84.0	89.0					11																	6470362		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470362C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2131G>A	11.37:g.6470362C>T	ENSP00000433102:p.Glu711Lys					TRIM3_uc001mdi.2_Missense_Mutation_p.E711K|TRIM3_uc010raj.1_Missense_Mutation_p.E592K|TRIM3_uc009yfd.2_Missense_Mutation_p.E711K	p.E711K	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	2518	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	711			NHL 6.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.2131G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121738	0.77436	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;D	0.83419	-0.59;-0.59;-0.76;-0.59;-1.72	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.058780	0.64402	D	0.000003	T	0.76926	0.4056	N	0.20881	0.62	0.53688	D	0.999979	P;P	0.40970	0.734;0.615	P;B	0.44673	0.457;0.269	T	0.73930	-0.3827	10	0.20046	T	0.44	-27.2434	16.6192	0.84925	0.0:1.0:0.0:0.0	.	592;711	F5H2Q8;O75382	.;TRIM3_HUMAN	K	711;711;700;633;711;592	ENSP00000433102:E711K;ENSP00000340797:E711K;ENSP00000441091:E633K;ENSP00000352508:E711K;ENSP00000445460:E592K	ENSP00000337094:E700K	E	-	1	0	TRIM3	6426938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.601000	0.82783	2.492000	0.84095	0.563000	0.77884	GAA		0.547	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2		NM_006458		18	40	0	0	0	0.008871	0	18	40		
DNHD1	144132	broad.mit.edu	37	11	6592126	6592126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:6592126C>T	ENST00000527990.2	+	40	13384	c.13384C>T	c.(13384-13386)Cgc>Tgc	p.R4462C	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4462C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4462					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACGTGATTCGCCAAGACGA	0.627																																						uc001mdw.3		NaN																	0				ovary(2)	2						c.(13384-13386)CGC>TGC		dynein heavy chain domain 1 isoform 1							49.0	56.0	54.0					11																	6592126		2148	4250	6398	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592126C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13384C>T	11.37:g.6592126C>T	ENSP00000436180:p.Arg4462Cys					DNHD1_uc001mea.3_Missense_Mutation_p.R731C|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.R730C|DNHD1_uc010rao.1_Missense_Mutation_p.R720C|DNHD1_uc009yfg.2_Missense_Mutation_p.R87C	p.R4462C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13948	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4462					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13384C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571994	0.28092	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08546	3.08;3.08	3.92	0.873	0.19118	Dynein heavy chain (1);	0.838997	0.10576	N	0.658484	T	0.08537	0.0212	L	0.57536	1.79	0.09310	N	1	B;B;B	0.18461	0.007;0.012;0.028	B;B;B	0.15484	0.002;0.002;0.013	T	0.37798	-0.9690	10	0.66056	D	0.02	-1.0074	2.5184	0.04674	0.1932:0.5127:0.1875:0.1066	.	3550;515;4462	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	C	4462;4462;730	ENSP00000254579:R4462C;ENSP00000436180:R4462C	ENSP00000254579:R4462C	R	+	1	0	DNHD1	6548702	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.589000	0.02104	0.197000	0.20387	0.563000	0.77884	CGC		0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666		18	42	0	0	0	0.00499	0	18	42		
IPO7	10527	broad.mit.edu	37	11	9435956	9435956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9435956C>T	ENST00000379719.3	+	5	776	c.634C>T	c.(634-636)Cag>Tag	p.Q212*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	212					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGCTCTTGTTCAGGTAATATC	0.343																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(634-636)CAG>TAG		importin 7							104.0	98.0	100.0					11																	9435956		2201	4296	6497	SO:0001587	stop_gained	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9435956C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.634C>T	11.37:g.9435956C>T	ENSP00000369042:p.Gln212*						p.Q212*	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	5	776	+			212					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Nonsense_Mutation	SNP	ENST00000379719.3	37	c.634C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843453	0.97016	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.0806	0.93180	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000369042:Q212X	Q	+	1	0	IPO7	9392532	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.484000	0.83849	0.650000	0.86243	CAG		0.343	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		8	71	0	0	0	0.006214	0	8	71		
SBF2	81846	broad.mit.edu	37	11	9838482	9838482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:9838482G>A	ENST00000256190.8	-	29	4020	c.3883C>T	c.(3883-3885)Cac>Tac	p.H1295Y		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1295	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAGGCCGAGTGATCCTTGCCT	0.507																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3883-3885)CAC>TAC		SET binding factor 2							91.0	76.0	81.0					11																	9838482		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838482G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3883C>T	11.37:g.9838482G>A	ENSP00000256190:p.His1295Tyr					SBF2_uc001mid.2_5'UTR	p.H1295Y	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4021	-			1295			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3883C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	0.832	-0.744950	0.03065	.	.	ENSG00000133812	ENST00000256190	D	0.85411	-1.98	5.75	5.75	0.90469	Myotubularin phosphatase domain (1);	0.621430	0.18174	N	0.149368	T	0.75627	0.3875	N	0.12569	0.235	0.33898	D	0.638147	B	0.20671	0.047	B	0.30179	0.112	T	0.77930	-0.2403	10	0.59425	D	0.04	.	11.7151	0.51647	0.0:0.1239:0.7325:0.1436	.	1295	Q86WG5	MTMRD_HUMAN	Y	1295	ENSP00000256190:H1295Y	ENSP00000256190:H1295Y	H	-	1	0	SBF2	9795058	1.000000	0.71417	0.933000	0.37362	0.149000	0.21700	6.453000	0.73488	2.713000	0.92767	0.655000	0.94253	CAC		0.507	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		13	59	0	0	0	0.001368	0	13	59		
SBF2	81846	broad.mit.edu	37	11	10014566	10014566	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10014566G>A	ENST00000256190.8	-	11	1275	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	380	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCTCTGCATGAATTCTTATA	0.318																																						uc001mib.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1138-1140)CAT>TAT		SET binding factor 2							91.0	95.0	94.0					11																	10014566		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10014566G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1138C>T	11.37:g.10014566G>A	ENSP00000256190:p.His380Tyr					SBF2_uc001mif.3_Missense_Mutation_p.H136Y	p.H380Y	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	11	1276	-			380			dDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.1138C>T	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.768311|4.768311	0.90020|0.90020	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	T|.	0.41758|.	0.99|.	5.25|5.25	5.25|5.25	0.73442|0.73442	dDENN (3);|.	0.065266|.	0.64402|.	D|.	0.000013|.	T|T	0.70378|0.70378	0.3217|0.3217	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	P|.	0.49696|.	0.927|.	P|.	0.58620|.	0.842|.	T|T	0.67304|0.67304	-0.5704|-0.5704	10|5	0.54805|.	T|.	0.06|.	.|.	18.8474|18.8474	0.92212|0.92212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	380|.	Q86WG5|.	MTMRD_HUMAN|.	Y|L	380|29	ENSP00000256190:H380Y|.	ENSP00000256190:H380Y|.	H|S	-|-	1|2	0|0	SBF2|SBF2	9971142|9971142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.835000|9.835000	0.99442|0.99442	2.453000|2.453000	0.82957|0.82957	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.318	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		32	81	0	0	0	0.003271	0	32	81		
MICALCL	84953	broad.mit.edu	37	11	12341262	12341262	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:12341262C>T	ENST00000256186.2	+	4	1737	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	482					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACTTTCCCCTCAGAGCACAGG	0.468																																						uc001mkg.1		NaN																	0				skin(1)	1						c.(1444-1446)CTC>CTT		MICAL C-terminal like							101.0	103.0	102.0					11																	12341262		1923	4130	6053	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12341262C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1446C>T	11.37:g.12341262C>T							p.L482L	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	4	1737	+			482					Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1446C>T	CCDS41620.1																																																																																				0.468	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1		NM_032867		32	111	0	0	0	0.002445	0	32	111		
BTBD10	84280	broad.mit.edu	37	11	13435141	13435141	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:13435141C>T	ENST00000278174.5	-	6	989	c.744G>A	c.(742-744)ctG>ctA	p.L248L	BTBD10_ENST00000528120.1_Silent_p.L200L|BTBD10_ENST00000530907.1_Silent_p.L256L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	248	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATGCTTCTCTCAGTTCAGGAA	0.328																																						uc001mkz.2		NaN																	0					0						c.(742-744)CTG>CTA		K+ channel tetramerization protein							104.0	97.0	99.0					11																	13435141		2200	4293	6493	SO:0001819	synonymous_variant	84280					nucleus		g.chr11:13435141C>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.744G>A	11.37:g.13435141C>T						BTBD10_uc010rcl.1_Silent_p.L256L|BTBD10_uc001mla.2_Silent_p.L232L|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Silent_p.L200L|BTBD10_uc010rcn.1_Silent_p.L217L|BTBD10_uc009ygo.2_Silent_p.L200L	p.L248L	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	6	1001	-			248					B7Z228|Q86WG1	Silent	SNP	ENST00000278174.5	37	c.744G>A	CCDS7811.1																																																																																				0.328	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1		NM_032320		8	61	0	0	0	0.00308	0	8	61		
HPS5	11234	broad.mit.edu	37	11	18309162	18309162	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:18309162G>A	ENST00000349215.3	-	18	2914	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	HPS5_ENST00000438420.2_Silent_p.I765I|HPS5_ENST00000396253.3_Silent_p.I765I|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	879					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAAGTTGTATGATATCCGATG	0.393									Hermansky-Pudlak syndrome																													uc001mod.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2635-2637)ATC>ATT		Hermansky-Pudlak syndrome 5 isoform a							98.0	95.0	96.0					11																	18309162		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18309162G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2637C>T	11.37:g.18309162G>A						HPS5_uc001moe.1_Silent_p.I765I|HPS5_uc001mof.1_Silent_p.I765I	p.I879I	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			18	2915	-			879					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.2637C>T	CCDS7836.1																																																																																				0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1		NM_181507		20	50	0	0	0	0.007413	0	20	50		
MUC15	143662	broad.mit.edu	37	11	26584757	26584757	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:26584757G>C	ENST00000455601.2	-	3	868	c.750C>G	c.(748-750)gtC>gtG	p.V250V	MUC15_ENST00000281268.8_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Silent_p.V277V|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.V277V	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	250					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TAAGCAATGAGACACCCAGAA	0.348																																						uc001mqx.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(748-750)GTC>GTG		mucin 15 isoform b							113.0	116.0	115.0					11																	26584757		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26584757G>C	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.750C>G	11.37:g.26584757G>C						ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.V277V|MUC15_uc001mqy.2_Intron	p.V250V	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			3	1016	-			250			Helical; (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.750C>G	CCDS7859.1																																																																																				0.348	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1		NM_145650		26	63	0	0	0	0.002096	0	26	63		
CCDC73	493860	broad.mit.edu	37	11	32636042	32636042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32636042G>T	ENST00000335185.5	-	16	1865	c.1822C>A	c.(1822-1824)Cca>Aca	p.P608T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	608										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CGAGTCCCTGGAAGCAATCTG	0.333																																						uc001mtv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1822-1824)CCA>ACA		sarcoma antigen NY-SAR-79							78.0	70.0	73.0					11																	32636042		1838	4087	5925	SO:0001583	missense	493860							g.chr11:32636042G>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1822C>A	11.37:g.32636042G>T	ENSP00000335325:p.Pro608Thr						p.P608T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	1866	-	Breast(20;0.112)		608					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1822C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	3.222	-0.159281	0.06544	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.89	1.68	0.24146	.	1.199620	0.05895	N	0.628955	T	0.28400	0.0702	L	0.54323	1.7	0.09310	N	1	P	0.40476	0.718	B	0.35971	0.215	T	0.17077	-1.0381	9	0.11794	T	0.64	.	5.3414	0.15986	0.0851:0.2366:0.5593:0.1189	.	608	Q6ZRK6	CCD73_HUMAN	T	608	.	ENSP00000335325:P608T	P	-	1	0	CCDC73	32592618	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.631000	0.24568	0.541000	0.28827	0.591000	0.81541	CCA		0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		7	36	1	0	8.12818e-05	0.001984	9.68923e-05	7	36		
QSER1	79832	broad.mit.edu	37	11	32955538	32955538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:32955538C>T	ENST00000399302.2	+	4	2682	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.Q544*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	783	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGATCATTCTCAGCAGCAACT	0.403																																						uc001mty.2		NaN																	0		p.Q783Q(1)		ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2347-2349)CAG>TAG		glutamine and serine rich 1							121.0	113.0	116.0					11																	32955538		1937	4155	6092	SO:0001587	stop_gained	79832							g.chr11:32955538C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2347C>T	11.37:g.32955538C>T	ENSP00000382241:p.Gln783*					QSER1_uc001mtz.1_Nonsense_Mutation_p.Q544*|QSER1_uc001mua.2_Nonsense_Mutation_p.Q288*	p.Q783*	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	2614	+	Breast(20;0.158)		783			Gln-rich.		Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.2347C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	41	8.681954	0.98912	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	.	.	.	5.73	4.81	0.61882	.	0.085679	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.143	0.72626	0.0:0.9313:0.0:0.0687	.	.	.	.	X	783;544;544	.	ENSP00000078652:Q544X	Q	+	1	0	QSER1	32912114	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.252000	0.65445	2.721000	0.93114	0.655000	0.94253	CAG		0.403	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		16	104	0	0	0	0.004007	0	16	104		
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433																																						uc001muh.2		NaN																	0					0						c.(1690-1692)GCT>TCT		cleavage stimulation factor subunit 3 isoform 1							263.0	257.0	259.0					11																	33108639		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33108639C>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1690G>T	11.37:g.33108639C>A	ENSP00000315791:p.Ala564Ser					TCP11L1_uc001muf.1_Intron	p.A564S	NM_001326	NP_001317	Q12996	CSTF3_HUMAN			18	1856	-			564			Pro-rich.		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1690G>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850394	0.51270	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.82	5.82	0.92795	Suppressor of forked (1);	0.049170	0.85682	D	0.000000	T	0.53367	0.1792	L	0.38531	1.155	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.51068	-0.8752	9	0.08837	T	0.75	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	564	Q12996	CSTF3_HUMAN	S	564;497	.	ENSP00000315791:A564S	A	-	1	0	CSTF3	33065215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.052000	0.57420	2.751000	0.94390	0.650000	0.86243	GCT		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1		NM_001326		11	337	1	0	1.5842e-08	0.001855	1.93326e-08	11	337		
CRY2	1408	broad.mit.edu	37	11	45891150	45891150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:45891150G>C	ENST00000443527.2	+	7	1061	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H	CRY2_ENST00000417225.2_Missense_Mutation_p.D265H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	326					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCCCAGGTTTGACCGCATGGA	0.592																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1		NaN																	0				central_nervous_system(1)	1						c.(1039-1041)GAC>CAC		cryptochrome 2 (photolyase-like) isoform 1							125.0	117.0	120.0					11																	45891150		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891150G>C	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1039G>C	11.37:g.45891150G>C	ENSP00000406751:p.Asp347His					CRY2_uc009ykw.2_Missense_Mutation_p.D265H|CRY2_uc010rgo.1_Missense_Mutation_p.D69H	p.D347H	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			7	1061	+			326			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1039G>C	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855053	0.91355	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.60957	1.885	0.80722	D	1	D;D;D	0.59767	0.974;0.974;0.986	P;P;P	0.60609	0.727;0.727;0.877	T	0.70378	-0.4888	9	0.35671	T	0.21	-34.8831	20.4777	0.99188	0.0:0.0:1.0:0.0	.	326;347;265	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	H	265;347	.	ENSP00000397419:D265H	D	+	1	0	CRY2	45847726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.862000	0.99564	2.840000	0.97914	0.655000	0.94253	GAC		0.592	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2		NM_021117		42	100	0	0	0	0.007835	0	42	100		
DGKZ	8525	broad.mit.edu	37	11	46387826	46387826	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46387826G>A	ENST00000454345.1	+	2	145	c.20G>A	c.(19-21)aGa>aAa	p.R7K	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	7					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTCTTTAGGAGACATTTCCGG	0.682																																						uc001ncn.1		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(19-21)AGA>AAA		diacylglycerol kinase zeta isoform 4							11.0	12.0	12.0					11																	46387826		1847	3925	5772	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387826G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.20G>A	11.37:g.46387826G>A	ENSP00000412178:p.Arg7Lys					DGKZ_uc001nch.1_Intron|DGKZ_uc010rgq.1_Intron|DGKZ_uc001ncj.1_Intron|DGKZ_uc010rgr.1_Intron|DGKZ_uc001nck.1_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.1_Intron	p.R7K	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	145	+			7					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.20G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904600	0.52333	.	.	ENSG00000149091	ENST00000454345	T	0.75154	-0.91	4.53	2.62	0.31277	.	0.108795	0.30492	N	0.009519	T	0.57095	0.2030	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47328	-0.9126	10	0.37606	T	0.19	.	10.1105	0.42559	0.1548:0.0:0.8452:0.0	.	7	Q13574	DGKZ_HUMAN	K	7	ENSP00000412178:R7K	ENSP00000412178:R7K	R	+	2	0	DGKZ	46344402	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.911000	0.56378	0.444000	0.26612	0.563000	0.77884	AGA		0.682	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		7	19	0	0	0	0.001984	0	7	19		
DGKZ	8525	broad.mit.edu	37	11	46397143	46397143	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:46397143G>A	ENST00000454345.1	+	21	2561	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	DGKZ_ENST00000456247.2_Silent_p.Q623Q|DGKZ_ENST00000527911.1_Silent_p.Q624Q|DGKZ_ENST00000343674.6_Silent_p.Q640Q|DGKZ_ENST00000528615.1_Silent_p.Q402Q|DGKZ_ENST00000318201.8_Silent_p.Q601Q|DGKZ_ENST00000532868.2_Silent_p.Q628Q|DGKZ_ENST00000421244.2_Silent_p.Q624Q|DGKZ_ENST00000395574.3_Silent_p.Q590Q|DGKZ_ENST00000543978.1_Intron|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	812					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCATGGTGCAGAAGGCCAAGC	0.692																																						uc001ncn.1		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2434-2436)CAG>CAA		diacylglycerol kinase zeta isoform 4							28.0	28.0	28.0					11																	46397143		2188	4289	6477	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397143G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2436G>A	11.37:g.46397143G>A						DGKZ_uc001nch.1_Silent_p.Q640Q|DGKZ_uc010rgq.1_Silent_p.Q567Q|DGKZ_uc001ncj.1_Silent_p.Q590Q|DGKZ_uc010rgr.1_Silent_p.Q589Q|DGKZ_uc001nck.1_Silent_p.Q402Q|DGKZ_uc001ncl.2_Silent_p.Q624Q|DGKZ_uc001ncm.2_Silent_p.Q623Q|DGKZ_uc009yky.1_Silent_p.Q624Q|DGKZ_uc010rgs.1_Silent_p.Q601Q	p.Q812Q	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	21	2561	+			812					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.2436G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	9.926	1.213422	0.22289	.	.	ENSG00000149091	ENST00000524869	.	.	.	4.04	3.12	0.35913	.	.	.	.	.	T	0.62514	0.2434	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60845	-0.7182	4	.	.	.	.	12.2601	0.54645	0.0845:0.0:0.9155:0.0	.	.	.	.	K	179	.	.	R	+	2	0	DGKZ	46353719	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.497000	0.73674	1.049000	0.40321	0.462000	0.41574	AGA		0.692	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		5	12	0	0	0	0.004482	0	5	12		
ARFGAP2	84364	broad.mit.edu	37	11	47198344	47198344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47198344G>C	ENST00000524782.1	-	1	289	c.61C>G	c.(61-63)Cca>Gca	p.P21A	ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.P21A|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	21	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTTGGTTGGAACTGCGCGA	0.617																																						uc001ndt.2		NaN																	0				ovary(1)	1						c.(61-63)CCA>GCA		ADP-ribosylation factor GTPase activating							49.0	53.0	52.0					11																	47198344		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198344G>C	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.61C>G	11.37:g.47198344G>C	ENSP00000434442:p.Pro21Ala					ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndu.2_Missense_Mutation_p.P21A|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.P21A|ARFGAP2_uc001ndv.1_Missense_Mutation_p.P21A	p.P21A	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			1	76	-			21			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.61C>G	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972777	0.53614	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.17	4.26	0.50523	.	0.069384	0.64402	D	0.000019	T	0.49047	0.1534	M	0.62266	1.93	0.80722	D	1	B;B;B;B	0.21309	0.054;0.006;0.003;0.001	B;B;B;B	0.28916	0.096;0.013;0.008;0.007	T	0.51348	-0.8717	10	0.66056	D	0.02	-9.4291	13.7206	0.62725	0.0745:0.0:0.9254:0.0	.	21;21;21;21	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	A	21	ENSP00000400226:P21A;ENSP00000434442:P21A;ENSP00000437305:P21A;ENSP00000434433:P21A;ENSP00000431939:P21A;ENSP00000434809:P21A;ENSP00000431684:P21A;ENSP00000435488:P21A	ENSP00000400226:P21A	P	-	1	0	ARFGAP2	47154920	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.951000	0.70273	1.195000	0.43115	0.462000	0.41574	CCA		0.617	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1		NM_032389		8	44	0	0	0	0.004482	0	8	44		
DDB2	1643	broad.mit.edu	37	11	47254407	47254407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254407C>T	ENST00000256996.4	+	4	694	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	DDB2_ENST00000378601.3_Missense_Mutation_p.L167F|DDB2_ENST00000378603.3_Missense_Mutation_p.L103F|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	167					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTTTAACCCTCTCAATACCAA	0.498			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(499-501)CTC>TTC	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							168.0	138.0	148.0					11																	47254407		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47254407C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.499C>T	11.37:g.47254407C>T	ENSP00000256996:p.Leu167Phe					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L103F|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.L31F|DDB2_uc001neh.2_RNA	p.L167F	NM_000107	NP_000098	Q92466	DDB2_HUMAN			4	694	+			167			WD 2.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.499C>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567115	0.45694	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378601	T;T;T	0.71698	-0.59;-0.25;0.79	6.07	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.286197	0.38897	N	0.001537	T	0.50343	0.1610	N	0.21448	0.665	0.34256	D	0.679361	B;B;B	0.20164	0.042;0.013;0.042	B;B;B	0.16722	0.016;0.007;0.012	T	0.52609	-0.8553	10	0.09590	T	0.72	-18.7209	7.3672	0.26781	0.0:0.7276:0.0:0.2724	.	103;167;167	Q92466-4;Q92466-5;Q92466	.;.;DDB2_HUMAN	F	167;103;167	ENSP00000256996:L167F;ENSP00000367866:L103F;ENSP00000367864:L167F	ENSP00000256996:L167F	L	+	1	0	DDB2	47210983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.860000	0.39428	1.581000	0.49865	0.655000	0.94253	CTC		0.498	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		10	112	0	0	0	0.000978	0	10	112		
DDB2	1643	broad.mit.edu	37	11	47254409	47254409	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47254409C>T	ENST00000256996.4	+	4	696	c.501C>T	c.(499-501)ctC>ctT	p.L167L	DDB2_ENST00000378601.3_Silent_p.L167L|DDB2_ENST00000378603.3_Silent_p.L103L|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	167					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTAACCCTCTCAATACCAACC	0.498			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(499-501)CTC>CTT	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							167.0	137.0	147.0					11																	47254409		2201	4298	6499	SO:0001819	synonymous_variant	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47254409C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.501C>T	11.37:g.47254409C>T						DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.L103L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Silent_p.L31L|DDB2_uc001neh.2_RNA	p.L167L	NM_000107	NP_000098	Q92466	DDB2_HUMAN			4	696	+			167			WD 2.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	c.501C>T	CCDS7927.1																																																																																				0.498	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		10	112	0	0	0	0.000978	0	10	112		
FNBP4	23360	broad.mit.edu	37	11	47744605	47744605	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:47744605G>C	ENST00000263773.5	-	15	2740	c.2728C>G	c.(2728-2730)Cct>Gct	p.P910A		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	910	Pro-rich.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ggaggaggaggaggtggtggt	0.493																																						uc009ylv.2		NaN																	0				ovary(1)	1						c.(2728-2730)CCT>GCT		formin binding protein 4							19.0	19.0	19.0					11																	47744605		2029	4173	6202	SO:0001583	missense	23360							g.chr11:47744605G>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2728C>G	11.37:g.47744605G>C	ENSP00000263773:p.Pro910Ala					FNBP4_uc001ngi.2_Missense_Mutation_p.P224A|FNBP4_uc001ngj.2_Missense_Mutation_p.P817A	p.P910A	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			15	2881	-			910			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2728C>G	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516559	0.64634	.	.	ENSG00000109920	ENST00000263773	T	0.45668	0.89	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.55481	1.735	0.49582	D	0.999803	D	0.76494	0.999	D	0.78314	0.991	T	0.57260	-0.7842	10	0.39692	T	0.17	-6.6428	16.1099	0.81255	0.0:0.0:1.0:0.0	.	910	Q8N3X1	FNBP4_HUMAN	A	910	ENSP00000263773:P910A	ENSP00000263773:P910A	P	-	1	0	FNBP4	47701181	1.000000	0.71417	0.861000	0.33841	0.607000	0.37147	6.067000	0.71193	2.398000	0.81561	0.555000	0.69702	CCT		0.493	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				6	6	0	0	0	0.001168	0	6	6		
PTPRJ	5795	broad.mit.edu	37	11	48152048	48152048	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:48152048C>T	ENST00000418331.2	+	8	1747	c.1395C>T	c.(1393-1395)gtC>gtT	p.V465V	PTPRJ_ENST00000440289.2_Silent_p.V465V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	465	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGACAGTGGTCAGCACGACGG	0.468																																						uc001ngp.3		NaN																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(1393-1395)GTC>GTT		protein tyrosine phosphatase, receptor type, J							79.0	74.0	76.0					11																	48152048		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48152048C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1395C>T	11.37:g.48152048C>T						PTPRJ_uc001ngo.3_Silent_p.V465V	p.V465V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			8	1750	+			465			Extracellular (Potential).|Fibronectin type-III 5.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1395C>T	CCDS7945.1																																																																																				0.468	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1				16	44	0	0	0	0.004007	0	16	44		
OR5L2	26338	broad.mit.edu	37	11	55595152	55595152	+	Missense_Mutation	SNP	C	C	T	rs144590289	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:55595152C>T	ENST00000378397.1	+	1	458	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.488										HNSCC(27;0.073)																												uc001nhy.1		NaN																	0				ovary(1)	1						c.(457-459)ACG>ATG		olfactory receptor, family 5, subfamily L,		C	MET/THR	2,4398		0,2,2198	218.0	186.0	197.0		458	2.3	0.0	11	dbSNP_134	197	4,8588		0,4,4292	yes	missense	OR5L2	NM_001004739.1	81	0,6,6490	TT,TC,CC		0.0466,0.0455,0.0462	benign	153/312	55595152	6,12986	2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595152C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.458C>T	11.37:g.55595152C>T	ENSP00000367650:p.Thr153Met	HNSCC(27;0.073)					p.T153M	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	458	+		all_epithelial(135;0.208)	153			Helical; Name=4; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.458C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.376	-0.931209	0.02359	4.55E-4	4.66E-4	ENSG00000205030	ENST00000378397	T	0.00091	8.74	5.18	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.05158	-0.105	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.03555	-1.1025	10	0.41790	T	0.15	-0.6723	6.6585	0.23000	0.0:0.5892:0.0:0.4108	.	153	Q8NGL0	OR5L2_HUMAN	M	153	ENSP00000367650:T153M	ENSP00000367650:T153M	T	+	2	0	OR5L2	55351728	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.137000	0.10389	0.713000	0.32060	-0.189000	0.12847	ACG		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		NM_001004739		35	127	0	0	0	0.004878	0	35	127		
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56020545G>A	ENST00000303059.3	+	1	870	c.870G>A	c.(868-870)atG>atA	p.M290I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M290I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403																																						uc010rjd.1		NaN																	1	Substitution - Missense(1)		cervix(1)		0						c.(868-870)ATG>ATA		olfactory receptor, family 5, subfamily T,							155.0	140.0	145.0					11																	56020545		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020545G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.870G>A	11.37:g.56020545G>A	ENSP00000305403:p.Met290Ile						p.M290I	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	870	+	Esophageal squamous(21;0.00448)		290			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.870G>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	5.423	0.263162	0.10294	.	.	ENSG00000172489	ENST00000303059	T	0.34859	1.34	4.46	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	1.468750	0.04322	N	0.350874	T	0.26484	0.0647	N	0.11870	0.19	0.19775	N	0.999954	B	0.12630	0.006	B	0.22152	0.038	T	0.22941	-1.0202	10	0.51188	T	0.08	.	9.1281	0.36828	0.0817:0.1478:0.7704:0.0	.	290	Q8NGG3	OR5T3_HUMAN	I	290	ENSP00000305403:M290I	ENSP00000305403:M290I	M	+	3	0	OR5T3	55777121	0.000000	0.05858	0.067000	0.19924	0.051000	0.14879	-0.928000	0.03980	1.219000	0.43474	0.643000	0.83706	ATG		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1		NM_001004747		11	96	0	0	0	0.000978	0	11	96		
OR5T1	390155	broad.mit.edu	37	11	56043552	56043552	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56043552G>A	ENST00000313033.2	+	1	524	c.438G>A	c.(436-438)gtG>gtA	p.V146V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGTATTCAGTGAGCATGTCAC	0.438																																						uc001nio.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(436-438)GTG>GTA		olfactory receptor, family 5, subfamily T,							243.0	209.0	221.0					11																	56043552		2201	4294	6495	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043552G>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.438G>A	11.37:g.56043552G>A							p.V146V	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	438	+	Esophageal squamous(21;0.00448)		146			Cytoplasmic (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.438G>A	CCDS31525.1																																																																																				0.438	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1		NM_001004745		64	200	0	0	0	0.00361	0	64	200		
OR8K1	390157	broad.mit.edu	37	11	56114212	56114212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:56114212G>C	ENST00000279783.2	+	1	792	c.698G>C	c.(697-699)aGa>aCa	p.R233T		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GCCATTCTCAGAATGAACTCA	0.378										HNSCC(65;0.19)																												uc010rjg.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(697-699)AGA>ACA		olfactory receptor, family 8, subfamily K,							102.0	91.0	95.0					11																	56114212		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114212G>C	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.698G>C	11.37:g.56114212G>C	ENSP00000279783:p.Arg233Thr	HNSCC(65;0.19)					p.R233T	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	698	+	Esophageal squamous(21;0.00448)		233			Cytoplasmic (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.698G>C	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853732	0.32791	.	.	ENSG00000150261	ENST00000279783	T	0.00241	8.46	5.0	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.381598	0.22047	N	0.065363	T	0.00496	0.0016	M	0.89658	3.05	0.09310	N	1	D	0.63046	0.992	D	0.65323	0.934	T	0.42050	-0.9474	10	0.87932	D	0	-4.0354	4.4947	0.11831	0.3786:0.0:0.4757:0.1458	.	233	Q8NGG5	OR8K1_HUMAN	T	233	ENSP00000279783:R233T	ENSP00000279783:R233T	R	+	2	0	OR8K1	55870788	0.000000	0.05858	0.826000	0.32828	0.397000	0.30659	0.146000	0.16180	0.505000	0.28104	0.549000	0.68633	AGA		0.378	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1		NM_001002907		13	53	0	0	0	0.001368	0	13	53		
OR5A2	219981	broad.mit.edu	37	11	59190117	59190117	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59190117C>A	ENST00000302040.4	-	1	332	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCACAGAAGACAAAGTACTGA	0.507																																						uc010rkt.1		NaN																	0					0						c.(310-312)GTC>TTC		olfactory receptor, family 5, subfamily A,							75.0	73.0	73.0					11																	59190117		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190117C>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.310G>T	11.37:g.59190117C>A	ENSP00000303834:p.Val104Phe						p.V104F	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	310	-			104			Helical; Name=3; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.310G>T	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732731	0.30684	.	.	ENSG00000172324	ENST00000302040	T	0.00304	8.19	5.47	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31847	U	0.006972	T	0.00039	0.0001	N	0.00652	-1.29	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.39231	-0.9624	10	0.02654	T	1	.	6.856	0.24040	0.5921:0.2618:0.0:0.146	.	104	Q8NGI9	OR5A2_HUMAN	F	104	ENSP00000303834:V104F	ENSP00000303834:V104F	V	-	1	0	OR5A2	58946693	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	-2.520000	0.00951	-0.469000	0.06911	0.585000	0.79938	GTC		0.507	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1		NM_001001954		21	56	1	0	2.37509e-13	0.001523	2.96629e-13	21	56		
OR4D11	219986	broad.mit.edu	37	11	59271544	59271544	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271544C>T	ENST00000313253.1	+	1	496	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GTTGCTGCCTCTCCCTTTCTG	0.517																																						uc001noa.1		NaN																	0				ovary(1)|skin(1)	2						c.(496-498)CTC>TTC		olfactory receptor, family 4, subfamily D,							255.0	220.0	232.0					11																	59271544		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271544C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.496C>T	11.37:g.59271544C>T	ENSP00000320077:p.Leu166Phe						p.L166F	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	496	+			166			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.496C>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	c	13.14	2.149027	0.37923	.	.	ENSG00000176200	ENST00000313253	T	0.00253	8.43	5.44	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000406	T	0.00384	0.0012	M	0.82517	2.595	0.39944	D	0.974442	B	0.31989	0.35	B	0.43575	0.424	T	0.68735	-0.5330	10	0.87932	D	0	-54.3916	12.3559	0.55176	0.0:0.9178:0.0:0.0822	.	166	Q8NGI4	OR4DB_HUMAN	F	166	ENSP00000320077:L166F	ENSP00000320077:L166F	L	+	1	0	OR4D11	59028120	0.000000	0.05858	0.912000	0.35992	0.346000	0.29079	0.050000	0.14120	2.554000	0.86153	0.557000	0.71058	CTC		0.517	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1		NM_001004706		54	172	0	0	0	0.00361	0	54	172		
OR4D11	219986	broad.mit.edu	37	11	59271963	59271963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:59271963C>T	ENST00000313253.1	+	1	915	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAGAAGACTCGTGCCTTCTG	0.527																																						uc001noa.1		NaN																	0				ovary(1)|skin(1)	2						c.(913-915)CTC>CTT		olfactory receptor, family 4, subfamily D,							50.0	48.0	49.0					11																	59271963		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271963C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.915C>T	11.37:g.59271963C>T							p.L305L	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	915	+			305			Cytoplasmic (Potential).			Silent	SNP	ENST00000313253.1	37	c.915C>T	CCDS31563.1																																																																																				0.527	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1		NM_001004706		11	53	0	0	0	0.008291	0	11	53		
FTH1	2495	broad.mit.edu	37	11	61732243	61732243	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732243G>C	ENST00000273550.7	-	4	742	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.L140V|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.L100V	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	170					cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TTGTCAAAGAGATATTCCGCC	0.522																																						uc001nsu.2		NaN																	0				ovary(1)	1						c.(508-510)CTC>GTC		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						57.0	54.0	55.0					11																	61732243		1873	4095	5968	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732243G>C		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.508C>G	11.37:g.61732243G>C	ENSP00000273550:p.Leu170Val						p.L170V	NM_002032	NP_002023	P02794	FRIH_HUMAN			4	743	-			170					B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.508C>G	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.708776	0.68615	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601	T;T;T	0.71934	-0.61;-0.61;-0.61	5.13	5.13	0.70059	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.80746	2.51	0.80722	D	1	B	0.23058	0.079	B	0.27887	0.084	T	0.75593	-0.3264	10	0.66056	D	0.02	.	18.6347	0.91372	0.0:0.0:1.0:0.0	.	170	P02794	FRIH_HUMAN	V	170;219;140;100	ENSP00000273550:L170V;ENSP00000433321:L140V;ENSP00000435111:L100V	ENSP00000273550:L170V	L	-	1	0	FTH1	61488819	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.674000	0.98633	2.563000	0.86464	0.558000	0.71614	CTC		0.522	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1		NM_002032		24	70	0	0	0	0.003954	0	24	70		
FTH1	2495	broad.mit.edu	37	11	61732561	61732561	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732561C>G	ENST00000273550.7	-	3	519	c.285G>C	c.(283-285)gaG>gaC	p.E95D	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.E65D|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.E25D|AP003733.1_ENST00000601917.1_5'Flank	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	95	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCAGCCCGCTCTCCCAGTCAT	0.448																																						uc001nsu.2		NaN																	0				ovary(1)	1						c.(283-285)GAG>GAC		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						160.0	160.0	160.0					11																	61732561		1926	4141	6067	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732561C>G		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.285G>C	11.37:g.61732561C>G	ENSP00000273550:p.Glu95Asp						p.E95D	NM_002032	NP_002023	P02794	FRIH_HUMAN			3	520	-			95			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.285G>C	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	8.909	0.958201	0.18507	.	.	ENSG00000167996	ENST00000273550;ENST00000406545;ENST00000526640;ENST00000532601;ENST00000529548	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.64	2.72	0.32119	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.151282	0.64402	N	0.000015	T	0.43722	0.1260	L	0.28014	0.82	0.39602	D	0.969741	B	0.02656	0.0	B	0.04013	0.001	T	0.33929	-0.9849	10	0.54805	T	0.06	.	5.4949	0.16797	0.0:0.6127:0.1495:0.2378	.	95	P02794	FRIH_HUMAN	D	95;144;65;25;25	ENSP00000273550:E95D;ENSP00000433321:E65D;ENSP00000435111:E25D;ENSP00000436947:E25D	ENSP00000273550:E95D	E	-	3	2	FTH1	61489137	0.995000	0.38212	0.967000	0.41034	0.572000	0.35998	0.261000	0.18442	0.655000	0.30866	0.563000	0.77884	GAG		0.448	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1		NM_002032		33	221	0	0	0	0.002836	0	33	221		
FTH1	2495	broad.mit.edu	37	11	61732918	61732918	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:61732918C>G	ENST00000273550.7	-	2	418	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.E32Q|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_5'UTR|AP003733.1_ENST00000601917.1_5'Flank	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	62	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TCCCTCTCCTCATGAGATTGG	0.443																																						uc001nsu.2		NaN																	0				ovary(1)	1						c.(184-186)GAG>CAG		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						151.0	141.0	144.0					11																	61732918		1890	4093	5983	SO:0001583	missense	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732918C>G		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.184G>C	11.37:g.61732918C>G	ENSP00000273550:p.Glu62Gln						p.E62Q	NM_002032	NP_002023	P02794	FRIH_HUMAN			2	419	-			62			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	c.184G>C	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.148037	0.78001	.	.	ENSG00000167996	ENST00000530019;ENST00000273550;ENST00000406545;ENST00000526640	T;T;T	0.76448	-1.02;-1.02;-1.02	4.56	4.56	0.56223	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.88194	0.6371	H	0.99336	4.52	0.80722	D	1	B	0.29646	0.253	B	0.31390	0.129	D	0.90522	0.4489	10	0.62326	D	0.03	.	17.3166	0.87226	0.0:1.0:0.0:0.0	.	62	P02794	FRIH_HUMAN	Q	62;62;111;32	ENSP00000433470:E62Q;ENSP00000273550:E62Q;ENSP00000433321:E32Q	ENSP00000273550:E62Q	E	-	1	0	FTH1	61489494	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.709000	0.84645	2.225000	0.72522	0.462000	0.41574	GAG		0.443	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1		NM_002032		30	212	0	0	0	0.008361	0	30	212		
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62289440G>A	ENST00000378024.4	-	5	12723	c.12449C>T	c.(12448-12450)tCt>tTt	p.S4150F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4150					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12448-12450)TCT>TTT		AHNAK nucleoprotein isoform 1							110.0	108.0	108.0					11																	62289440		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289440G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12449C>T	11.37:g.62289440G>A	ENSP00000367263:p.Ser4150Phe					AHNAK_uc001ntk.1_Intron	p.S4150F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12749	-		Melanoma(852;0.155)	4150					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12449C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.69	1.715068	0.30413	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.21	4.21	0.49690	.	0.227351	0.37809	N	0.001931	T	0.35653	0.0939	H	0.95611	3.695	0.24359	N	0.994887	D	0.76494	0.999	D	0.83275	0.996	T	0.45702	-0.9243	10	0.72032	D	0.01	.	14.3595	0.66761	0.0:0.0:1.0:0.0	.	4150	Q09666	AHNK_HUMAN	F	4150	ENSP00000367263:S4150F	ENSP00000367263:S4150F	S	-	2	0	AHNAK	62046016	0.902000	0.30710	0.003000	0.11579	0.047000	0.14425	3.312000	0.51927	1.913000	0.55393	0.393000	0.25936	TCT		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		45	132	0	0	0	0.00874	0	45	132		
INTS5	80789	broad.mit.edu	37	11	62414702	62414702	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62414702G>C	ENST00000330574.2	-	2	2902	c.2850C>G	c.(2848-2850)ctC>ctG	p.L950L	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	950					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CATGCTCCCGGAGAAAACCCC	0.587																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(2848-2850)CTC>CTG		integrator complex subunit 5							134.0	150.0	145.0					11																	62414702		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414702G>C	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2850C>G	11.37:g.62414702G>C						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L950L	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2903	-			950			Helical; (Potential).		Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2850C>G	CCDS8027.1																																																																																				0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		49	198	0	0	0	0.00361	0	49	198		
INTS5	80789	broad.mit.edu	37	11	62415293	62415293	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62415293G>A	ENST00000330574.2	-	2	2311	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	753					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CACGGCCGATGACTCCAGCAT	0.547																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(2257-2259)GTC>GTT		integrator complex subunit 5							55.0	60.0	58.0					11																	62415293		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415293G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2259C>T	11.37:g.62415293G>A						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.V753V	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2312	-			753					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2259C>T	CCDS8027.1																																																																																				0.547	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		17	62	0	0	0	0.006122	0	17	62		
HNRNPUL2	221092	broad.mit.edu	37	11	62494157	62494157	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:62494157C>G	ENST00000301785.5	-	1	664	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	TTC9C_ENST00000532583.1_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E158Q|TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000316461.4_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	158	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCCGCTCCTCGGGTTCGTCT	0.701																																						uc001nuw.2		NaN																	0					0						c.(472-474)GAG>CAG		heterogeneous nuclear ribonucleoprotein U-like							16.0	19.0	18.0					11																	62494157		1974	4151	6125	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494157C>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.472G>C	11.37:g.62494157C>G	ENSP00000301785:p.Glu158Gln					HNRNPUL2_uc001nuu.1_RNA|TTC9C_uc001nux.2_5'Flank|TTC9C_uc001nuy.2_5'Flank	p.E158Q	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			1	665	-			158			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.472G>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563201	0.45694	.	.	ENSG00000214753	ENST00000301785	T	0.74421	-0.84	4.1	4.1	0.47936	.	1.018660	0.07866	N	0.967056	T	0.58991	0.2161	L	0.29908	0.895	0.31474	N	0.668059	B	0.31680	0.335	B	0.25614	0.062	T	0.54403	-0.8299	10	0.13470	T	0.59	-11.8782	8.4528	0.32882	0.0:0.8885:0.0:0.1115	.	158	Q1KMD3	HNRL2_HUMAN	Q	158	ENSP00000301785:E158Q	ENSP00000301785:E158Q	E	-	1	0	HNRNPUL2	62250733	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	3.184000	0.50926	2.236000	0.73375	0.563000	0.77884	GAG		0.701	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2		XM_495877		13	26	0	0	0	0.001368	0	13	26		
NRXN2	9379	broad.mit.edu	37	11	64410027	64410027	+	Intron	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64410027G>A	ENST00000377551.1	-	16	3615				NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000301894.2_Silent_p.L83L|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCCGCGGGTGAGGAAGGGCA	0.731																																						uc001oap.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(247-249)CTC>CTT		neurexin 2 isoform beta precursor							43.0	34.0	37.0					11																	64410027		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane		g.chr11:64410027G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5663C>T	11.37:g.64410027G>A						NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	p.L83L	NM_138734	NP_620063	P58401	NRX2B_HUMAN			2	760	-			83			Extracellular (Potential).		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.249C>T	CCDS8077.1																																																																																				0.731	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		7	18	0	0	0	0.00308	0	7	18		
PYGM	5837	broad.mit.edu	37	11	64520647	64520647	+	Missense_Mutation	SNP	G	G	C	rs142207594		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64520647G>C	ENST00000164139.3	-	12	1814	c.1416C>G	c.(1414-1416)ttC>ttG	p.F472L	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.F384L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	472					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGCTCATAGAAGTCTTTGA	0.577																																						uc001oax.3		NaN																	0				ovary(2)	2						c.(1414-1416)TTC>TTG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)	G	LEU/PHE,LEU/PHE	0,4402		0,0,2201	123.0	137.0	133.0		1152,1416	3.8	1.0	11	dbSNP_134	133	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	22,22	0,1,6497	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	384/755,472/843	64520647	1,12995	2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64520647G>C		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1416C>G	11.37:g.64520647G>C	ENSP00000164139:p.Phe472Leu					PYGM_uc001oay.3_Missense_Mutation_p.F384L	p.F472L	NM_005609	NP_005600	P11217	PYGM_HUMAN			12	2233	-			472					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1416C>G	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317514	0.81469	0.0	1.16E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.95001	-3.58;-3.58	5.82	3.85	0.44370	.	0.000000	0.64402	D	0.000013	D	0.96694	0.8921	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.95549	0.8619	10	0.72032	D	0.01	-26.12	7.1561	0.25639	0.2929:0.0:0.7071:0.0	.	384;472	A6NDY6;P11217	.;PYGM_HUMAN	L	384;472;453	ENSP00000366650:F384L;ENSP00000164139:F472L	ENSP00000164139:F472L	F	-	3	2	PYGM	64277223	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.935000	0.40173	0.712000	0.32039	-0.367000	0.07326	TTC		0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		62	146	0	0	0	0.00361	0	62	146		
ATG2A	23130	broad.mit.edu	37	11	64665196	64665196	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64665196C>T	ENST00000377264.3	-	36	5126	c.5014G>A	c.(5014-5016)Gag>Aag	p.E1672K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1674K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1672					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGGGACCTCAGACGTGAAG	0.647																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5014-5016)GAG>AAG		autophagy related 2A							91.0	85.0	87.0					11																	64665196		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64665196C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5014G>A	11.37:g.64665196C>T	ENSP00000366475:p.Glu1672Lys					ATG2A_uc001obw.2_Missense_Mutation_p.E437K	p.E1672K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			36	5129	-			1672					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5014G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746148	0.49151	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08193	3.12;3.12	4.09	3.16	0.36331	.	0.000000	0.64402	D	0.000001	T	0.27798	0.0684	M	0.81942	2.565	0.51767	D	0.999935	D;D	0.76494	0.999;0.999	D;D	0.73708	0.957;0.981	T	0.03566	-1.1024	10	0.66056	D	0.02	.	11.7781	0.51997	0.0:0.8205:0.1795:0.0	.	1672;1674	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	K	1674;1672	ENSP00000410522:E1674K;ENSP00000366475:E1672K	ENSP00000366475:E1672K	E	-	1	0	ATG2A	64421772	1.000000	0.71417	0.638000	0.29380	0.051000	0.14879	6.884000	0.75600	1.051000	0.40369	-0.315000	0.08773	GAG		0.647	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		12	48	0	0	0	0.001368	0	12	48		
ZNHIT2	741	broad.mit.edu	37	11	64884581	64884581	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:64884581C>T	ENST00000310597.4	-	1	589	c.545G>A	c.(544-546)gGa>gAa	p.G182E	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	182							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGGACATCTCCAAGAACCCG	0.726																																						uc001ocw.2		NaN																	0				breast(1)	1						c.(544-546)GGA>GAA		zinc finger, HIT domain containing 2							8.0	10.0	9.0					11																	64884581		2160	4219	6379	SO:0001583	missense	741						metal ion binding	g.chr11:64884581C>T		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.545G>A	11.37:g.64884581C>T	ENSP00000308548:p.Gly182Glu					uc009yqb.1_Missense_Mutation_p.S151F	p.G182E	NM_014205	NP_055020	Q9UHR6	ZNHI2_HUMAN			1	590	-			182					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.545G>A	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	1.880	-0.458172	0.04508	.	.	ENSG00000174276	ENST00000310597	T	0.28895	1.59	3.57	0.501	0.16925	.	0.550485	0.16913	N	0.194410	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35847	-0.9772	10	0.02654	T	1	-1.6004	6.768	0.23579	0.0:0.6178:0.0:0.3822	.	182	Q9UHR6	ZNHI2_HUMAN	E	182	ENSP00000308548:G182E	ENSP00000308548:G182E	G	-	2	0	ZNHIT2	64641157	0.004000	0.15560	0.034000	0.17996	0.009000	0.06853	1.001000	0.29783	0.112000	0.17975	0.561000	0.74099	GGA		0.726	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1		NM_014205		5	14	0	0	0	0.001984	0	5	14		
RELA	5970	broad.mit.edu	37	11	65427190	65427190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:65427190G>C	ENST00000406246.3	-	6	767	c.506C>G	c.(505-507)tCa>tGa	p.S169*	RELA_ENST00000525693.1_Nonsense_Mutation_p.S169*|RELA_ENST00000308639.9_Nonsense_Mutation_p.S166*	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	169	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGGCCTGCCTGATGGGTCCCG	0.587																																						uc001ofg.2		NaN																	0				lung(3)|ovary(1)	4						c.(505-507)TCA>TGA		v-rel reticuloendotheliosis viral oncogene							58.0	60.0	59.0					11																	65427190		2201	4297	6498	SO:0001587	stop_gained	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65427190G>C	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.506C>G	11.37:g.65427190G>C	ENSP00000384273:p.Ser169*					RELA_uc001ofh.2_Nonsense_Mutation_p.S166*|RELA_uc010ron.1_Nonsense_Mutation_p.S180*|RELA_uc009yqr.2_Nonsense_Mutation_p.S116*|RELA_uc001ofe.2_Nonsense_Mutation_p.S169*|RELA_uc001off.2_Nonsense_Mutation_p.S169*|RELA_uc009yqs.1_RNA	p.S169*	NM_021975	NP_068810	Q04206	TF65_HUMAN			6	646	-			169			RHD.		Q6GTV1|Q6SLK1	Nonsense_Mutation	SNP	ENST00000406246.3	37	c.506C>G	CCDS31609.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.698897|5.698897|5.698897	0.96802|0.96802|0.96802	.|.|.	.|.|.	ENSG00000173039|ENSG00000173039|ENSG00000173039	ENST00000532879|ENST00000526257|ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	.|.|.	.|.|.	.|.|.	4.71|4.71|4.71	4.71|4.71|4.71	0.59529|0.59529|0.59529	.|.|.	.|.|1.027470	.|.|0.07792	.|.|N	.|.|0.955090	T|T|.	0.67720|0.67720|.	0.2923|0.2923|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.68127|0.68127|.	-0.5491|-0.5491|.	4|3|.	0.54805|.|0.51188	T|.|T	0.06|.|0.08	-2.7857|-2.7857|-2.7857	15.1604|15.1604|15.1604	0.72778|0.72778|0.72778	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|E|X	149|9|169;169;166;169;180;180;160;138	.|.|.	ENSP00000432922:I119M|.|ENSP00000311508:S166X	I|Q|S	-|-|-	3|1|2	3|0|0	RELA|RELA|RELA	65183766|65183766|65183766	0.455000|0.455000|0.455000	0.25736|0.25736|0.25736	0.145000|0.145000|0.145000	0.22337|0.22337|0.22337	0.846000|0.846000|0.846000	0.48090|0.48090|0.48090	2.145000|2.145000|2.145000	0.42207|0.42207|0.42207	2.163000|2.163000|2.163000	0.67991|0.67991|0.67991	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	ATC|CAG|TCA		0.587	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2		NM_021975		26	74	0	0	0	0.007291	0	26	74		
BBS1	582	broad.mit.edu	37	11	66278173	66278173	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:66278173G>A	ENST00000318312.7	+	1	94	c.43G>A	c.(43-45)Gag>Aag	p.E15K	BBS1_ENST00000393994.2_Missense_Mutation_p.E15K|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000537537.1_5'UTR|CTD-3074O7.11_ENST00000419755.3_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.E15K	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	15					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTGCGGAGCTGAGAGGTGAAG	0.662									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	0				ovary(1)	1						c.(43-45)GAG>AAG		Bardet-Biedl syndrome 1							36.0	35.0	35.0					11																	66278173		2200	4295	6495	SO:0001583	missense	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66278173G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.43G>A	11.37:g.66278173G>A	ENSP00000317469:p.Glu15Lys					BBS1_uc001oii.1_Intron|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.E15K|BBS1_uc001oik.1_5'UTR|BBS1_uc001oil.1_Missense_Mutation_p.E15K	p.E15K	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			1	55	+			15					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.43G>A	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881260	0.51801	.	.	ENSG00000174483	ENST00000318312;ENST00000525809;ENST00000455748;ENST00000393994	D;D;D;D	0.97161	-4.27;-3.07;-4.13;-4.03	4.96	2.87	0.33458	.	.	.	.	.	D	0.92502	0.7619	L	0.29908	0.895	0.80722	D	1	P;P;P	0.42908	0.793;0.793;0.793	B;B;B	0.37692	0.256;0.164;0.164	D	0.90156	0.4224	9	0.28530	T	0.3	.	10.9218	0.47169	0.0:0.3699:0.6301:0.0	.	15;15;15	E7EQH1;Q32MM9;Q8NFJ9	.;.;BBS1_HUMAN	K	15	ENSP00000317469:E15K;ENSP00000431187:E15K;ENSP00000405764:E15K;ENSP00000377563:E15K	ENSP00000317469:E15K	E	+	1	0	BBS1	66034749	0.990000	0.36364	0.917000	0.36280	0.283000	0.27025	2.571000	0.45990	1.386000	0.46466	0.650000	0.86243	GAG		0.662	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2				9	32	0	0	0	0.008291	0	9	32		
KDM2A	22992	broad.mit.edu	37	11	67022406	67022406	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67022406G>A	ENST00000529006.2	+	21	3815	c.3369G>A	c.(3367-3369)ttG>ttA	p.L1123L	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L684L|KDM2A_ENST00000308783.5_Silent_p.L581L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1123					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACGTCACCTTGATCGACCTTC	0.502																																						uc001ojw.2		NaN																	0				ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(3367-3369)TTG>TTA		F-box and leucine-rich repeat protein 11							100.0	95.0	96.0					11																	67022406		2033	4199	6232	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67022406G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3369G>A	11.37:g.67022406G>A						KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.L817L|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.2_Silent_p.L247L	p.L1123L	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			21	4233	+			1123			LRR 5.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.3369G>A	CCDS44657.1																																																																																				0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2		NM_012308		6	19	0	0	0	0.001984	0	6	19		
CHKA	1119	broad.mit.edu	37	11	67888317	67888317	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:67888317C>T	ENST00000265689.4	-	1	354	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CHKA_ENST00000356135.5_Missense_Mutation_p.E110K|CTD-2655K5.1_ENST00000527519.2_RNA	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	110					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	ATGTGGAACTCGTCCTCGCGG	0.766																																						uc001onj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(328-330)GAG>AAG		choline kinase alpha isoform a	Choline(DB00122)						16.0	18.0	17.0					11																	67888317		1404	3214	4618	SO:0001583	missense	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67888317C>T	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.328G>A	11.37:g.67888317C>T	ENSP00000265689:p.Glu110Lys					CHKA_uc001onk.2_Missense_Mutation_p.E110K	p.E110K	NM_001277	NP_001268	P35790	CHKA_HUMAN			1	542	-			110					Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	c.328G>A	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586523	0.46110	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	T;T	0.58358	0.34;0.34	2.21	1.24	0.21308	Protein kinase-like domain (1);	0.795975	0.10746	U	0.638872	T	0.44726	0.1307	L	0.28400	0.85	0.25714	N	0.985454	P;B	0.40515	0.719;0.348	P;B	0.45856	0.495;0.148	T	0.31052	-0.9957	10	0.32370	T	0.25	.	8.8447	0.35164	0.0:0.2395:0.7605:0.0	.	110;110	P35790-2;P35790	.;CHKA_HUMAN	K	110	ENSP00000265689:E110K;ENSP00000348454:E110K	ENSP00000265689:E110K	E	-	1	0	CHKA	67644893	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.508000	0.35769	0.239000	0.21243	0.195000	0.17529	GAG		0.766	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1		NM_001277		13	47	0	0	0	0.004007	0	13	47		
PPFIA1	8500	broad.mit.edu	37	11	70189871	70189871	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:70189871G>C	ENST00000253925.7	+	15	2019	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D602H	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	602					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGACGTGTCTGATGGTGAAGA	0.532																																						uc001opo.2		NaN																	0				lung(2)|ovary(1)	3						c.(1804-1806)GAT>CAT		PTPRF interacting protein alpha 1 isoform b							135.0	95.0	109.0					11																	70189871		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70189871G>C	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1804G>C	11.37:g.70189871G>C	ENSP00000253925:p.Asp602His					PPFIA1_uc001opn.1_Missense_Mutation_p.D602H|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.D602H	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		15	2002	+			602					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.1804G>C	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778172	0.90195	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.27890	1.64;1.64	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.76838	2.35	0.80722	D	1	P;P	0.51057	0.819;0.941	P;P	0.58013	0.682;0.831	T	0.59899	-0.7367	10	0.72032	D	0.01	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	602;602	Q13136;Q13136-2	LIPA1_HUMAN;.	H	602;602;89	ENSP00000253925:D602H;ENSP00000374198:D602H	ENSP00000253925:D602H	D	+	1	0	PPFIA1	69867519	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.577000	0.98196	2.484000	0.83849	0.561000	0.74099	GAT		0.532	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		7	58	0	0	0	0.001984	0	7	58		
ARHGEF17	9828	broad.mit.edu	37	11	73078785	73078785	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73078785G>A	ENST00000263674.3	+	21	6502	c.6152G>A	c.(6151-6153)cGa>cAa	p.R2051Q		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2051					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTGTGGGTCGAGACGACAGC	0.632																																						uc001otu.2		NaN																	0					0						c.(6151-6153)CGA>CAA		Rho guanine nucleotide exchange factor (GEF) 17							103.0	93.0	96.0					11																	73078785		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73078785G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.6152G>A	11.37:g.73078785G>A	ENSP00000263674:p.Arg2051Gln						p.R2051Q	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			21	6173	+			2051					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.6152G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440941	0.96168	.	.	ENSG00000110237	ENST00000263674	T	0.61274	0.12	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76666	-0.2875	10	0.72032	D	0.01	-7.9468	17.0443	0.86498	0.0:0.0:1.0:0.0	.	2051	Q96PE2	ARHGH_HUMAN	Q	2051	ENSP00000263674:R2051Q	ENSP00000263674:R2051Q	R	+	2	0	ARHGEF17	72756433	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	9.413000	0.97351	2.617000	0.88574	0.561000	0.74099	CGA		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786		13	82	0	0	0	0.004007	0	13	82		
UCP3	7352	broad.mit.edu	37	11	73718076	73718076	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73718076C>T	ENST00000314032.4	-	2	564	c.12G>A	c.(10-12)ctG>ctA	p.L4L	UCP3_ENST00000426995.2_Silent_p.L4L|UCP3_ENST00000348534.4_Silent_p.L4L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	4					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CTGAAGGCTTCAGTCCAACCA	0.602																																						uc001our.2		NaN																	0				pancreas(1)	1						c.(10-12)CTG>CTA		uncoupling protein 3 isoform UCP3L							83.0	62.0	69.0					11																	73718076		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73718076C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.12G>A	11.37:g.73718076C>T						UCP3_uc001ous.2_Silent_p.L4L	p.L4L	NM_003356	NP_003347	P55916	UCP3_HUMAN			2	367	-	Breast(11;2.08e-05)		4					O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.12G>A	CCDS8229.1																																																																																				0.602	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1		NM_003356		9	31	0	0	0	0.000978	0	9	31		
C2CD3	26005	broad.mit.edu	37	11	73820130	73820130	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73820130C>A	ENST00000334126.7	-	12	2137	c.1911G>T	c.(1909-1911)tgG>tgT	p.W637C	C2CD3_ENST00000313663.7_Missense_Mutation_p.W637C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	637					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTTGGAATTCCACCAGTGCT	0.433																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1909-1911)TGG>TGT		C2 calcium-dependent domain containing 3							122.0	118.0	119.0					11																	73820130		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73820130C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1911G>T	11.37:g.73820130C>A	ENSP00000334379:p.Trp637Cys						p.W637C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			12	2138	-	Breast(11;4.16e-06)		637					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1911G>T		.	.	.	.	.	.	.	.	.	.	C	17.42	3.386357	0.61956	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11604	2.76;2.78	5.46	5.46	0.80206	.	0.227132	0.39615	N	0.001312	T	0.30885	0.0779	L	0.54323	1.7	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.00477	-1.1716	10	0.51188	T	0.08	-4.4669	18.9103	0.92481	0.0:1.0:0.0:0.0	.	637	Q4AC94-1	.	C	637	ENSP00000334379:W637C;ENSP00000323339:W637C	ENSP00000323339:W637C	W	-	3	0	C2CD3	73497778	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.344000	0.59354	2.561000	0.86390	0.650000	0.86243	TGG		0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		19	47	1	0	7.07596e-05	0.006122	8.44891e-05	19	47		
C2CD3	26005	broad.mit.edu	37	11	73844510	73844510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:73844510G>A	ENST00000334126.7	-	6	1274	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.H350Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.H350Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	350					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393																																						uc001ouu.2		NaN																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1048-1050)CAT>TAT		C2 calcium-dependent domain containing 3							140.0	125.0	130.0					11																	73844510		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73844510G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1048C>T	11.37:g.73844510G>A	ENSP00000334379:p.His350Tyr					C2CD3_uc001ouv.2_Missense_Mutation_p.H350Y	p.H350Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			6	1275	-	Breast(11;4.16e-06)		350					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1048C>T		.	.	.	.	.	.	.	.	.	.	G	11.91	1.779632	0.31502	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.10005	2.92;2.92	5.79	4.86	0.63082	.	0.511109	0.19865	N	0.104339	T	0.12603	0.0306	L	0.51422	1.61	0.24874	N	0.992265	P;P	0.42375	0.778;0.773	B;B	0.40782	0.256;0.34	T	0.13045	-1.0524	10	0.17369	T	0.5	-1.5179	14.651	0.68797	0.0:0.1452:0.8548:0.0	.	350;350	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	Y	350	ENSP00000334379:H350Y;ENSP00000323339:H350Y	ENSP00000289350:H350Y	H	-	1	0	C2CD3	73522158	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	3.103000	0.50298	1.393000	0.46605	0.655000	0.94253	CAT		0.393	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531		13	20	0	0	0	0.00245	0	13	20		
MAP6	4135	broad.mit.edu	37	11	75298605	75298605	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:75298605C>T	ENST00000304771.3	-	4	2691	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.P318P|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	647	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTTCATCCTTCGGATGCTCTG	0.512																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NaN																	0					0						c.(1939-1941)CCG>CCA		microtubule-associated protein 6 isoform 1							162.0	149.0	153.0					11																	75298605		2200	4293	6493	SO:0001819	synonymous_variant	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298605C>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1941G>A	11.37:g.75298605C>T							p.P647P	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	2006	-	Ovarian(111;0.11)		647			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	c.1941G>A	CCDS31641.1																																																																																				0.512	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1		NM_033063		58	129	0	0	0	0.00361	0	58	129		
C11orf30	56946	broad.mit.edu	37	11	76257029	76257029	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:76257029G>C	ENST00000529032.1	+	19	3462	c.3462G>C	c.(3460-3462)ttG>ttC	p.L1154F	C11orf30_ENST00000525919.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1169F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L1155F|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.L1154F|C11orf30_ENST00000524490.1_Missense_Mutation_p.L1056F|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1063F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1154					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAATGTCTTTGATGGAAGCTC	0.448																																						uc001oxl.2		NaN																	0				ovary(5)|skin(1)	6						c.(3460-3462)TTG>TTC		EMSY protein							98.0	93.0	95.0					11																	76257029		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257029G>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3462G>C	11.37:g.76257029G>C	ENSP00000432327:p.Leu1154Phe					C11orf30_uc001oxm.2_Missense_Mutation_p.L1056F|C11orf30_uc010rsb.1_Missense_Mutation_p.L1169F|C11orf30_uc010rsc.1_Missense_Mutation_p.L1155F|C11orf30_uc001oxn.2_Missense_Mutation_p.L1155F|C11orf30_uc010rsd.1_Missense_Mutation_p.L1063F|C11orf30_uc010rse.1_Missense_Mutation_p.L401F|C11orf30_uc001oxp.2_Intron	p.L1154F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			20	3605	+			1154					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3462G>C	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.78|13.78	2.339662|2.339662	0.41398|0.41398	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032|ENST00000531793	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.047315|.	0.85682|.	D|.	0.000000|.	T|.	0.47414|.	0.1444|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;B;B;B;B;B|.	0.53885|.	0.963;0.079;0.079;0.058;0.079;0.058|.	P;B;B;B;B;B|.	0.47044|.	0.535;0.031;0.031;0.046;0.031;0.046|.	T|.	0.41324|.	-0.9515|.	9|.	0.59425|.	D|.	0.04|.	-2.8024|-2.8024	19.3464|19.3464	0.94365|0.94365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1063;1155;1169;1155;1056;1154|.	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589|.	.;.;.;.;.;EMSY_HUMAN|.	F|S	1056;1154;836;1169;1063;1155;1155;1154|13	.|.	ENSP00000334130:L1154F|.	L|X	+|+	3|2	2|2	C11orf30|C11orf30	75934677|75934677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.823000|8.823000	0.92018|0.92018	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	TTG|TGA		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193		26	59	0	0	0	0.00333	0	26	59		
TENM4	26011	broad.mit.edu	37	11	78369325	78369325	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:78369325C>G	ENST00000278550.7	-	34	8550	c.8088G>C	c.(8086-8088)caG>caC	p.Q2696H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2696					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCACGGCTCTCTGCCGGGCCA	0.657																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(8086-8088)CAG>CAC		odz, odd Oz/ten-m homolog 4							38.0	43.0	42.0					11																	78369325		2025	4179	6204	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369325C>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8088G>C	11.37:g.78369325C>G	ENSP00000278550:p.Gln2696His					ODZ4_uc001ozk.3_Missense_Mutation_p.Q921H|ODZ4_uc009yvb.1_Intron	p.Q2696H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8551	-			2696			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8088G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083253	0.76642	.	.	ENSG00000149256	ENST00000278550	D	0.90133	-2.62	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94298	0.8168	M	0.70595	2.14	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	D	0.93403	0.6762	9	.	.	.	.	13.8873	0.63717	0.0:0.9279:0.0:0.0721	.	2696	Q6N022	TEN4_HUMAN	H	2696	ENSP00000278550:Q2696H	.	Q	-	3	2	ODZ4	78046973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.787000	0.62432	2.884000	0.98904	0.655000	0.94253	CAG		0.657	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				10	21	0	0	0	0.008291	0	10	21		
CCDC81	60494	broad.mit.edu	37	11	86119250	86119250	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:86119250G>A	ENST00000445632.2	+	9	1323	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	CCDC81_ENST00000528728.1_Intron|CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.D261N	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	351										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGATAGAAGATGAGAGACT	0.428																																						uc001pbx.1		NaN																	0				skin(1)	1						c.(1051-1053)GAT>AAT		coiled-coil domain containing 81 isoform 1							113.0	104.0	107.0					11																	86119250		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86119250G>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1051G>A	11.37:g.86119250G>A	ENSP00000415528:p.Asp351Asn					CCDC81_uc001pbw.1_Missense_Mutation_p.D261N|CCDC81_uc010rtq.1_Missense_Mutation_p.D134N|CCDC81_uc001pby.1_Intron	p.D351N	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN			9	1479	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	351					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.1051G>A	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004801	0.93287	.	.	ENSG00000149201	ENST00000354755;ENST00000445632	T;T	0.45276	0.9;0.9	5.28	5.28	0.74379	.	0.234802	0.34750	N	0.003710	T	0.63663	0.2530	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.962;0.998	P;D	0.68943	0.744;0.961	T	0.63906	-0.6531	9	.	.	.	-20.5398	17.6714	0.88218	0.0:0.0:1.0:0.0	.	351;261	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	N	261;351	ENSP00000346800:D261N;ENSP00000415528:D351N	.	D	+	1	0	CCDC81	85796898	1.000000	0.71417	0.970000	0.41538	0.848000	0.48234	3.130000	0.50508	2.440000	0.82611	0.563000	0.77884	GAT		0.428	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1		NM_021827		11	35	0	0	0	0.000978	0	11	35		
KBTBD3	143879	broad.mit.edu	37	11	105923824	105923824	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:105923824C>G	ENST00000526793.1	-	3	1751	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S	KBTBD3_ENST00000531837.1_Missense_Mutation_p.W531S|KBTBD3_ENST00000534815.1_Missense_Mutation_p.W452S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	527										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTCGCCTTTCCAAACACAAGT	0.358																																						uc001pja.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1591-1593)TGG>TCG		BTB and kelch domain containing 3							55.0	56.0	55.0					11																	105923824		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105923824C>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1592G>C	11.37:g.105923824C>G	ENSP00000436262:p.Trp531Ser					KBTBD3_uc001pjb.2_Missense_Mutation_p.W531S|KBTBD3_uc009yxm.2_Missense_Mutation_p.W452S	p.W531S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2232	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	527					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1592G>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366314	0.61513	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.79454	-1.27;-1.27;-1.27	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.84739	0.0750	10	0.87932	D	0	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	531;527	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	S	452;531;531	ENSP00000431910:W452S;ENSP00000436262:W531S;ENSP00000432163:W531S	ENSP00000436262:W531S	W	-	2	0	KBTBD3	105429034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.835000	0.97688	0.591000	0.81541	TGG		0.358	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2		NM_152433		5	46	0	0	0	0.000602	0	5	46		
DDX10	1662	broad.mit.edu	37	11	108577549	108577549	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:108577549C>T	ENST00000322536.3	+	10	1436	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	DDX10_ENST00000526794.1_Missense_Mutation_p.P436L	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	436	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGAAAGTACCTGTGAAGGAA	0.373			T	NUP98	AML*																																	uc001pkm.2		NaN		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(1306-1308)CCT>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							164.0	163.0	163.0					11																	108577549		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108577549C>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1307C>T	11.37:g.108577549C>T	ENSP00000314348:p.Pro436Leu					DDX10_uc001pkl.1_Missense_Mutation_p.P436L	p.P436L	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	10	1372	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	436			Helicase C-terminal.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1307C>T	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768924	0.69878	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.50548	0.74;0.76	5.31	5.31	0.75309	Helicase, C-terminal (1);	0.105392	0.64402	D	0.000003	T	0.63426	0.2510	M	0.89414	3.03	0.80722	D	1	P;P	0.46512	0.879;0.879	P;P	0.48089	0.566;0.566	T	0.72184	-0.4367	10	0.87932	D	0	-11.4249	14.4824	0.67592	0.0:1.0:0.0:0.0	.	436;436	Q13206;E9PIF2	DDX10_HUMAN;.	L	436;342;436	ENSP00000314348:P436L;ENSP00000432032:P436L	ENSP00000314348:P436L	P	+	2	0	DDX10	108082759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.593000	0.61034	2.497000	0.84241	0.655000	0.94253	CCT		0.373	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1		NM_004398		27	154	0	0	0	0.005443	0	27	154		
ZBTB16	7704	broad.mit.edu	37	11	113934854	113934854	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:113934854G>C	ENST00000335953.4	+	2	1212	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E278Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	278					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGAGGCAAAGAGGGGCCTGG	0.632																																						uc001pop.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(832-834)GAG>CAG		promyelocytic leukemia zinc finger protein							48.0	42.0	44.0					11																	113934854		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934854G>C	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.832G>C	11.37:g.113934854G>C	ENSP00000338157:p.Glu278Gln					ZBTB16_uc001poo.1_Missense_Mutation_p.E278Q|ZBTB16_uc001poq.2_Missense_Mutation_p.E278Q	p.E278Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	1096	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	278					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.832G>C	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546427	0.45383	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.11930	2.73;2.73	5.11	5.11	0.69529	.	0.162138	0.53938	D	0.000046	T	0.10680	0.0261	N	0.19112	0.55	0.46149	D	0.998896	B;B	0.13145	0.007;0.003	B;B	0.10450	0.005;0.001	T	0.10405	-1.0631	10	0.41790	T	0.15	-17.1937	15.1328	0.72539	0.0:0.1416:0.8584:0.0	.	278;283	Q05516;Q59H43	ZBT16_HUMAN;.	Q	278	ENSP00000338157:E278Q;ENSP00000376721:E278Q	ENSP00000338157:E278Q	E	+	1	0	ZBTB16	113440064	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.427000	0.73378	2.651000	0.90000	0.655000	0.94253	GAG		0.632	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1		NM_006006		8	41	0	0	0	0.004482	0	8	41		
ABCG4	64137	broad.mit.edu	37	11	119027643	119027643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:119027643G>C	ENST00000449422.2	+	9	1175	c.987G>C	c.(985-987)caG>caC	p.Q329H	ABCG4_ENST00000531739.1_Missense_Mutation_p.Q329H|ABCG4_ENST00000307417.3_Missense_Mutation_p.Q329H|AP002956.1_ENST00000599663.1_Intron	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	329					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCTGTGCAGAATGGGCTGT	0.582																																						uc001pvs.2		NaN																	0				ovary(2)	2						c.(985-987)CAG>CAC		ATP-binding cassette, subfamily G, member 4							176.0	162.0	167.0					11																	119027643		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027643G>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.987G>C	11.37:g.119027643G>C	ENSP00000406874:p.Gln329His					ABCG4_uc009zar.2_Missense_Mutation_p.Q329H	p.Q329H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1323	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	329			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.987G>C	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643534	0.67244	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	D;D;D;T	0.87412	-2.25;-2.25;-2.25;0.68	5.65	3.8	0.43715	.	0.050079	0.85682	D	0.000000	D	0.83644	0.5299	M	0.64404	1.975	0.48185	D	0.999601	B	0.18863	0.031	B	0.10450	0.005	T	0.78468	-0.2192	10	0.49607	T	0.09	-22.5526	9.4663	0.38816	0.2178:0.0:0.7822:0.0	.	329	Q9H172	ABCG4_HUMAN	H	329;329;329;7	ENSP00000304111:Q329H;ENSP00000406874:Q329H;ENSP00000434318:Q329H;ENSP00000434571:Q7H	ENSP00000304111:Q329H	Q	+	3	2	ABCG4	118532853	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.620000	0.61226	0.753000	0.32945	-0.126000	0.14955	CAG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169		22	98	0	0	0	0.00278	0	22	98		
POU2F3	25833	broad.mit.edu	37	11	120169015	120169015	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:120169015C>T	ENST00000543440.2	+	4	324	c.174C>T	c.(172-174)ctC>ctT	p.L58L	POU2F3_ENST00000260264.4_Silent_p.L60L	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	58					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGCAGACCCTCTCCCATCGGC	0.532																																						uc001pxc.2		NaN																	0				ovary(1)|skin(1)	2						c.(172-174)CTC>CTT		POU transcription factor							196.0	188.0	191.0					11																	120169015		2203	4300	6503	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169015C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.174C>T	11.37:g.120169015C>T						POU2F3_uc010rzk.1_5'UTR|POU2F3_uc010rzl.1_5'UTR	p.L58L	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	4	276	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	58					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.174C>T	CCDS8431.1																																																																																				0.532	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2				43	227	0	0	0	0.002522	0	43	227		
C11orf63	79864	broad.mit.edu	37	11	122805334	122805334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:122805334C>T	ENST00000531316.1	+	4	1277	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	C11orf63_ENST00000227349.2_Silent_p.P395P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	395					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATAACCCTCCCAGGCAGCAAC	0.463																																						uc001pym.2		NaN																	0				ovary(3)	3						c.(1183-1185)CCC>CCT		hypothetical protein LOC79864 isoform 1							75.0	73.0	74.0					11																	122805334		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122805334C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1185C>T	11.37:g.122805334C>T							p.P395P	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1482	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	395					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1185C>T	CCDS8438.1																																																																																				0.463	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		8	32	0	0	0	0.00308	0	8	32		
ST14	6768	broad.mit.edu	37	11	130059777	130059777	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:130059777C>T	ENST00000278742.5	+	5	1002	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	195	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGGTCACCTCAGTGGTGGCT	0.701																																						uc001qfw.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(583-585)TCA>TTA		matriptase	Urokinase(DB00013)						64.0	70.0	68.0					11																	130059777		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130059777C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.584C>T	11.37:g.130059777C>T	ENSP00000278742:p.Ser195Leu					ST14_uc010sca.1_5'Flank	p.S195L	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	5	777	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	195			Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.584C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493061	0.96339	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.88201	-2.35	4.98	4.98	0.66077	.	0.000000	0.33732	N	0.004616	D	0.90728	0.7090	M	0.76574	2.34	0.53688	D	0.999972	P	0.52842	0.956	P	0.48368	0.575	D	0.91319	0.5080	10	0.49607	T	0.09	.	16.3702	0.83355	0.0:1.0:0.0:0.0	.	195	Q9Y5Y6	ST14_HUMAN	L	195;97	ENSP00000278742:S195L	ENSP00000278742:S195L	S	+	2	0	ST14	129564987	0.912000	0.30974	0.790000	0.31976	0.662000	0.39071	3.952000	0.56691	2.452000	0.82932	0.563000	0.77884	TCA		0.701	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1				18	85	0	0	0	0.008871	0	18	85		
CACNA1C	775	broad.mit.edu	37	12	2690861	2690861	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2690861C>A	ENST00000347598.4	+	14	2001	c.2001C>A	c.(1999-2001)ctC>ctA	p.L667L	CACNA1C_ENST00000480911.1_Silent_p.L667L|CACNA1C_ENST00000399617.1_Silent_p.L667L|CACNA1C_ENST00000406454.3_Silent_p.L667L|CACNA1C_ENST00000335762.5_Silent_p.L692L|CACNA1C_ENST00000399591.1_Silent_p.L667L|CACNA1C_ENST00000399601.1_Silent_p.L667L|CACNA1C_ENST00000402845.3_Silent_p.L667L|CACNA1C_ENST00000399621.1_Silent_p.L667L|CACNA1C_ENST00000399595.1_Silent_p.L667L|CACNA1C_ENST00000344100.3_Silent_p.L667L|CACNA1C_ENST00000399655.1_Silent_p.L667L|CACNA1C_ENST00000399637.1_Silent_p.L667L|CACNA1C_ENST00000399597.1_Silent_p.L667L|CACNA1C_ENST00000399603.1_Silent_p.L667L|CACNA1C_ENST00000399641.1_Silent_p.L667L|CACNA1C_ENST00000399606.1_Silent_p.L667L|CACNA1C_ENST00000399629.1_Silent_p.L667L|CACNA1C_ENST00000399638.1_Silent_p.L667L|CACNA1C_ENST00000399644.1_Silent_p.L667L|CACNA1C_ENST00000399634.1_Silent_p.L667L|CACNA1C_ENST00000327702.7_Silent_p.L667L|CACNA1C_ENST00000399649.1_Silent_p.L667L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	667					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	tcttctccctcctGGGGATGC	0.537																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(1999-2001)CTC>CTA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						95.0	98.0	97.0					12																	2690861		2203	4300	6503	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2690861C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2001C>A	12.37:g.2690861C>A						CACNA1C_uc009zdv.1_Silent_p.L664L|CACNA1C_uc001qkb.2_Silent_p.L667L|CACNA1C_uc001qkc.2_Silent_p.L667L|CACNA1C_uc001qke.2_Silent_p.L667L|CACNA1C_uc001qkf.2_Silent_p.L667L|CACNA1C_uc001qjz.2_Silent_p.L667L|CACNA1C_uc001qkd.2_Silent_p.L667L|CACNA1C_uc001qkg.2_Silent_p.L667L|CACNA1C_uc009zdw.1_Silent_p.L667L|CACNA1C_uc001qkh.2_Silent_p.L667L|CACNA1C_uc001qkl.2_Silent_p.L667L|CACNA1C_uc001qkn.2_Silent_p.L667L|CACNA1C_uc001qko.2_Silent_p.L667L|CACNA1C_uc001qkp.2_Silent_p.L667L|CACNA1C_uc001qkr.2_Silent_p.L667L|CACNA1C_uc001qku.2_Silent_p.L667L|CACNA1C_uc001qkq.2_Silent_p.L667L|CACNA1C_uc001qks.2_Silent_p.L667L|CACNA1C_uc001qkt.2_Silent_p.L667L|CACNA1C_uc001qka.1_Silent_p.L202L|CACNA1C_uc001qki.1_Silent_p.L403L|CACNA1C_uc001qkj.1_Silent_p.L403L|CACNA1C_uc001qkk.1_Silent_p.L403L|CACNA1C_uc001qkm.1_Silent_p.L403L|CACNA1C_uc001qkw.2_5'Flank	p.L667L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	14	2314	+			667			II.|Helical; Name=S5 of repeat II; (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.2001C>A	CCDS44788.1																																																																																				0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		12	86	1	0	5.50884e-06	0.001368	6.64382e-06	12	86		
ITFG2	55846	broad.mit.edu	37	12	2933049	2933049	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:2933049C>T	ENST00000228799.2	+	11	1319	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	ITFG2_ENST00000419778.2_Silent_p.L217L|ITFG2_ENST00000542548.1_Silent_p.L282L	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	394					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTACCAATCTGGTGAAACT	0.582																																						uc001qlb.1		NaN																	0					0						c.(1180-1182)CTG>TTG		integrin alpha FG-GAP repeat containing 2							98.0	98.0	98.0					12																	2933049		2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2933049C>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1180C>T	12.37:g.2933049C>T						ITFG2_uc010seb.1_Silent_p.L217L|ITFG2_uc010sec.1_RNA	p.L394L	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		11	1244	+			394					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.1180C>T	CCDS8513.1																																																																																				0.582	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1		NM_018463		43	97	0	0	0	0.00361	0	43	97		
CD4	920	broad.mit.edu	37	12	6924060	6924060	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:6924060C>T	ENST00000011653.4	+	5	767	c.509C>T	c.(508-510)tCc>tTc	p.S170F	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.S115F	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	170	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAGACCCTCTCCGTGTCTCAG	0.552																																						uc001qqv.1		NaN																	0					0						c.(508-510)TCC>TTC		CD4 antigen precursor							87.0	77.0	81.0					12																	6924060		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924060C>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.509C>T	12.37:g.6924060C>T	ENSP00000011653:p.Ser170Phe					CD4_uc009zez.1_Missense_Mutation_p.S115F|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	p.S170F	NM_000616	NP_000607	P01730	CD4_HUMAN			5	754	+		Myeloproliferative disorder(1001;0.0122)	170			Extracellular (Potential).|Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.509C>T	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	9.798	1.179838	0.21787	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.25414	1.8;1.8	3.81	0.694	0.18062	Immunoglobulin subtype (1);Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	1.746230	0.03031	N	0.152122	T	0.24122	0.0584	L	0.53561	1.675	0.09310	N	1	B;B	0.30605	0.287;0.007	B;B	0.28849	0.095;0.016	T	0.17501	-1.0367	10	0.27785	T	0.31	-1.606	4.6643	0.12657	0.1721:0.6206:0.0:0.2073	.	115;170	F5H480;P01730	.;CD4_HUMAN	F	170;115	ENSP00000011653:S170F;ENSP00000445167:S115F	ENSP00000011653:S170F	S	+	2	0	CD4	6794321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.217000	0.09253	0.407000	0.25591	-0.657000	0.03884	TCC		0.552	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		NM_000616		22	49	0	0	0	0.001882	0	22	49		
CLEC6A	93978	broad.mit.edu	37	12	8618181	8618181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:8618181G>A	ENST00000382073.3	+	4	511	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAACTGTGTTGAGATGGGAGC	0.393																																						uc001qum.1		NaN																	0				breast(1)	1						c.(325-327)GAG>AAG		dectin-2							171.0	154.0	160.0					12																	8618181		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8618181G>A	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.325G>A	12.37:g.8618181G>A	ENSP00000371505:p.Glu109Lys						p.E109K	NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN			4	442	+	Lung SC(5;0.184)		109			Extracellular (Potential).|C-type lectin.		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.325G>A	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182505	0.01620	.	.	ENSG00000205846	ENST00000382073	T	0.16597	2.33	3.96	-1.32	0.09201	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.610330	0.04123	N	0.316545	T	0.10551	0.0258	L	0.35487	1.065	0.09310	N	1	B	0.25441	0.126	B	0.26094	0.066	T	0.21655	-1.0239	10	0.05351	T	0.99	.	4.3242	0.11032	0.3044:0.341:0.3547:0.0	.	109	Q6EIG7	CLC6A_HUMAN	K	109	ENSP00000371505:E109K	ENSP00000371505:E109K	E	+	1	0	CLEC6A	8509448	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	-0.440000	0.06888	-0.262000	0.09392	-0.232000	0.12228	GAG		0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1		NM_001007033		30	77	0	0	0	0.003755	0	30	77		
CLEC12A	160364	broad.mit.edu	37	12	10124258	10124258	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:10124258C>T	ENST00000304361.4	+	1	245	c.63C>T	c.(61-63)atC>atT	p.I21I	CLEC12A_ENST00000355690.4_Silent_p.I31I|CLEC12A_ENST00000434319.2_Silent_p.I21I|CLEC12A_ENST00000350667.4_Silent_p.I21I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TGGAAAAAATCCCAGAAATTG	0.318																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3		NaN																	0				skin(1)	1						c.(61-63)ATC>ATT		myeloid inhibitory C-type lectin-like receptor							94.0	103.0	100.0					12																	10124258		2203	4299	6502	SO:0001819	synonymous_variant	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10124258C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.63C>T	12.37:g.10124258C>T						CLEC12A_uc001qwq.2_Silent_p.I31I|CLEC12A_uc001qws.3_Silent_p.I21I|CLEC12A_uc001qwt.2_5'UTR	p.I21I	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			1	251	+			21			Cytoplasmic (Potential).		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	ENST00000304361.4	37	c.63C>T	CCDS8608.1																																																																																				0.318	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1		NM_138337		18	73	0	0	0	0.00499	0	18	73		
BCL2L14	79370	broad.mit.edu	37	12	12247765	12247765	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:12247765C>G	ENST00000308721.5	+	5	1052	c.846C>G	c.(844-846)ctC>ctG	p.L282L	BCL2L14_ENST00000589718.1_Silent_p.L282L|BCL2L14_ENST00000586576.1_Silent_p.L315L|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000396367.1_Silent_p.L282L|BCL2L14_ENST00000266434.4_3'UTR	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	282					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CGGCCAAGCTCACAGCTATTG	0.552																																						uc001rac.2		NaN																	0				skin(1)	1						c.(844-846)CTC>CTG		BCL2-like 14 isoform 1							80.0	73.0	75.0					12																	12247765		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12247765C>G	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.846C>G	12.37:g.12247765C>G						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Silent_p.L282L|BCL2L14_uc001rae.2_3'UTR	p.L282L	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	5	1047	+		Prostate(47;0.0872)	282					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.846C>G	CCDS8645.1																																																																																				0.552	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3		NM_030766		31	91	0	0	0	0.007291	0	31	91		
PLCZ1	89869	broad.mit.edu	37	12	18876389	18876389	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:18876389C>T	ENST00000266505.7	-	4	486	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PLCZ1_ENST00000447925.2_Missense_Mutation_p.E73K|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGAAAATCTCAATAATTTCT	0.338																																						uc010sid.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(223-225)GAG>AAG		phospholipase C, zeta 1							90.0	90.0	90.0					12																	18876389		2201	4299	6500	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18876389C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.223G>A	12.37:g.18876389C>T	ENSP00000266505:p.Glu75Lys					PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_Intron	p.E75K	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			4	414	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		75						Missense_Mutation	SNP	ENST00000266505.7	37	c.223G>A	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096058	0.76870	.	.	ENSG00000139151	ENST00000266505;ENST00000447925	T;T	0.18960	2.18;2.18	5.02	5.02	0.67125	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.212620	0.41396	D	0.000899	T	0.39226	0.1070	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07028	-1.0794	10	0.15952	T	0.53	.	15.4848	0.75557	0.0:1.0:0.0:0.0	.	75	Q86YW0	PLCZ1_HUMAN	K	75;73	ENSP00000266505:E75K;ENSP00000402358:E73K	ENSP00000266505:E75K	E	-	1	0	PLCZ1	18767656	0.992000	0.36948	0.936000	0.37596	0.824000	0.46624	3.254000	0.51477	2.325000	0.78763	0.563000	0.77884	GAG		0.338	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3		NM_033123		16	65	0	0	0	0.004007	0	16	65		
PDE3A	5139	broad.mit.edu	37	12	20801786	20801786	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:20801786G>A	ENST00000359062.3	+	13	2770	c.2730G>A	c.(2728-2730)ctG>ctA	p.L910L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	910	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCACTGACCTGAAGAAACACT	0.363																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2728-2730)CTG>CTA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						98.0	93.0	95.0					12																	20801786		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801786G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2730G>A	12.37:g.20801786G>A							p.L910L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			13	2752	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	910			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2730G>A	CCDS31754.1																																																																																				0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				31	64	0	0	0	0.003271	0	31	64		
C12orf71	728858	broad.mit.edu	37	12	27235150	27235150	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:27235150G>T	ENST00000429849.2	-	1	297	c.267C>A	c.(265-267)ttC>ttA	p.F89L		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	89										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCCAGGCCAGGAAGATGCTTA	0.483																																						uc001rhq.2		NaN																	0					0						c.(265-267)TTC>TTA		hypothetical protein LOC728858							85.0	85.0	85.0					12																	27235150		2002	4173	6175	SO:0001583	missense	728858							g.chr12:27235150G>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.267C>A	12.37:g.27235150G>T	ENSP00000413728:p.Phe89Leu						p.F89L	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	306	-			89						Missense_Mutation	SNP	ENST00000429849.2	37	c.267C>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976439	0.18736	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.40225	1.04	3.32	-2.71	0.05986	.	0.551148	0.13406	U	0.390226	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B	0.19073	0.033	B	0.14578	0.011	T	0.11299	-1.0593	10	0.30078	T	0.28	-0.0156	3.5665	0.07901	0.2135:0.0:0.2981:0.4884	.	89	A8MTZ7	CL071_HUMAN	L	89	ENSP00000413728:F89L	ENSP00000381796:F89L	F	-	3	2	C12orf71	27126417	0.002000	0.14202	0.003000	0.11579	0.010000	0.07245	-0.248000	0.08854	-0.820000	0.04318	0.511000	0.50034	TTC		0.483	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1		NM_001080406		7	52	1	0	0.00307968	0.00308	0.00364399	7	52		
IPO8	10526	broad.mit.edu	37	12	30833556	30833556	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:30833556C>T	ENST00000256079.4	-	5	837	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	167					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGTTCTCTCTCTTCTGCTTTC	0.318																																						uc001rjd.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(499-501)GAG>AAG		importin 8							110.0	114.0	112.0					12																	30833556		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30833556C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.499G>A	12.37:g.30833556C>T	ENSP00000256079:p.Glu167Lys						p.E167K	NM_006390	NP_006381	O15397	IPO8_HUMAN			5	669	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		167					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.499G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205087	0.95033	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.66638	-0.22;-0.22	4.65	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.051770	0.85682	D	0.000000	T	0.66436	0.2789	L	0.49640	1.575	0.80722	D	1	P	0.46784	0.884	P	0.47162	0.54	T	0.61959	-0.6955	10	0.15499	T	0.54	-13.5195	18.0646	0.89387	0.0:1.0:0.0:0.0	.	167	O15397	IPO8_HUMAN	K	167;105	ENSP00000256079:E167K;ENSP00000440979:E105K	ENSP00000256079:E167K	E	-	1	0	IPO8	30724823	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.410000	0.80065	2.563000	0.86464	0.585000	0.79938	GAG		0.318	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		19	136	0	0	0	0.007413	0	19	136		
KIF21A	55605	broad.mit.edu	37	12	39703448	39703448	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:39703448G>C	ENST00000361418.5	-	33	4232	c.4217C>G	c.(4216-4218)tCa>tGa	p.S1406*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1369*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.S1407*|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1393*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1353*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1406					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATAAGATGTTGATACAGTGAA	0.393																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(4216-4218)TCA>TGA		kinesin family member 21A							96.0	90.0	92.0					12																	39703448		2203	4300	6503	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39703448G>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4217C>G	12.37:g.39703448G>C	ENSP00000354878:p.Ser1406*					KIF21A_uc001rlv.2_Nonsense_Mutation_p.S351*|KIF21A_uc001rlw.2_Nonsense_Mutation_p.S676*|KIF21A_uc001rlx.2_Nonsense_Mutation_p.S1393*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.S1353*|KIF21A_uc010skl.1_Nonsense_Mutation_p.S1369*|KIF21A_uc001rlt.2_Nonsense_Mutation_p.S26*|KIF21A_uc001rlu.2_Nonsense_Mutation_p.S26*	p.S1406*	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			33	4363	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1406			WD 2.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.4217C>G	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.578671|6.578671	0.97680|0.97680	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.43747	.|D	.|0.000528	T|.	0.81564|.	0.4849|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83829|.	0.0251|.	3|.	.|0.87932	.|D	.|0	.|.	19.1599|19.1599	0.93526|0.93526	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	707|1393;1407;1359;393;387;1369;1406;1353	.|.	.|ENSP00000344501:S1359X	Q|S	-|-	1|2	0|0	KIF21A|KIF21A	37989715|37989715	1.000000|1.000000	0.71417|0.71417	0.790000|0.790000	0.31976|0.31976	0.821000|0.821000	0.46438|0.46438	9.273000|9.273000	0.95719|0.95719	2.521000|2.521000	0.84997|0.84997	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		12	49	0	0	0	0.001855	0	12	49		
LRRK2	120892	broad.mit.edu	37	12	40629491	40629491	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:40629491G>A	ENST00000298910.7	+	4	469	c.411G>A	c.(409-411)aaG>aaA	p.K137K	LRRK2_ENST00000343742.2_Silent_p.K137K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	137					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGGACTGAAGACCTTAGATC	0.303																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(409-411)AAG>AAA		leucine-rich repeat kinase 2							177.0	158.0	164.0					12																	40629491		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40629491G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.411G>A	12.37:g.40629491G>A							p.K137K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			4	532	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	137					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.411G>A	CCDS31774.1																																																																																				0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		12	53	0	0	0	0.001855	0	12	53		
CERS5	91012	broad.mit.edu	37	12	50536906	50536906	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:50536906G>A	ENST00000317551.6	-	3	509	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CERS5_ENST00000422340.2_Missense_Mutation_p.R71W	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	129					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGATTCCTCCGATGGCGAAAC	0.478																																						uc001rwd.3		NaN																	0					0						c.(385-387)CGG>TGG		LAG1 homolog, ceramide synthase 5							225.0	235.0	231.0					12																	50536906		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536906G>A		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.385C>T	12.37:g.50536906G>A	ENSP00000325485:p.Arg129Trp					LASS5_uc001rwc.2_Missense_Mutation_p.R48W|LASS5_uc001rwe.3_Missense_Mutation_p.R70W|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR	p.R129W	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN			3	402	-			129			Cytoplasmic (Potential).|Homeobox.		B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.385C>T	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691292	0.68271	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.97831	-4.56;-4.56;-4.56	4.52	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.93939	3.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99285	1.0897	10	0.72032	D	0.01	-16.1063	14.7147	0.69259	0.0:0.0:0.738:0.262	.	71;129;48	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	W	48;129;71	ENSP00000447556:R48W;ENSP00000325485:R129W;ENSP00000389050:R71W	ENSP00000325485:R129W	R	-	1	2	CERS5	48823173	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.963000	0.49184	0.649000	0.30751	-0.824000	0.03097	CGG		0.478	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3		NM_147190		124	307	0	0	0	0.00361	0	124	307		
METTL7A	25840	broad.mit.edu	37	12	51323733	51323733	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323733G>C	ENST00000548553.1	+	3	1516	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	METTL7A_ENST00000332160.4_Missense_Mutation_p.E179Q			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	179						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						TGTGGCAGCTGAGTGTTCGAC	0.428																																						uc001rxb.2		NaN																	0					0						c.(535-537)GAG>CAG		methyltransferase like 7A precursor							128.0	128.0	128.0					12																	51323733		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51323733G>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.535G>C	12.37:g.51323733G>C	ENSP00000448785:p.Glu179Gln					METTL7A_uc010smv.1_Nonstop_Mutation_p.*110S	p.E179Q	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			2	823	+			179					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.535G>C	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260600	0.39995	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.27256	1.89;1.68;1.89	5.61	3.68	0.42216	.	0.304180	0.33180	N	0.005195	T	0.22282	0.0537	L	0.48174	1.505	0.31686	N	0.642457	B	0.24092	0.097	B	0.28465	0.09	T	0.16100	-1.0414	10	0.31617	T	0.26	-12.0581	8.8485	0.35186	0.278:0.0:0.722:0.0	.	179	Q9H8H3	MET7A_HUMAN	Q	179;179;179;110	ENSP00000448785:E179Q;ENSP00000450239:E179Q;ENSP00000331787:E179Q	ENSP00000331787:E179Q	E	+	1	0	METTL7A	49610000	0.885000	0.30320	0.582000	0.28627	0.842000	0.47809	1.738000	0.38207	0.739000	0.32628	0.655000	0.94253	GAG		0.428	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		56	188	0	0	0	0.00361	0	56	188		
METTL7A	25840	broad.mit.edu	37	12	51323817	51323817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51323817G>T	ENST00000548553.1	+	3	1600	c.619G>T	c.(619-621)Gag>Tag	p.E207*	METTL7A_ENST00000332160.4_Nonsense_Mutation_p.E207*			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	207						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CCTGACCAGAGAGAGCTGGAA	0.572																																						uc001rxb.2		NaN																	0					0						c.(619-621)GAG>TAG		methyltransferase like 7A precursor							100.0	98.0	99.0					12																	51323817		2203	4300	6503	SO:0001587	stop_gained	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51323817G>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.619G>T	12.37:g.51323817G>T	ENSP00000448785:p.Glu207*					METTL7A_uc010smv.1_3'UTR	p.E207*	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			2	907	+			207					Q9H7R3|Q9UHZ7|Q9Y422	Nonsense_Mutation	SNP	ENST00000548553.1	37	c.619G>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.932896	0.97116	.	.	ENSG00000185432	ENST00000548553;ENST00000332160;ENST00000433599	.	.	.	5.61	4.71	0.59529	.	0.342816	0.29246	N	0.012719	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.3486	16.0499	0.80749	0.0:0.1343:0.8657:0.0	.	.	.	.	X	207;207;138	.	ENSP00000331787:E207X	E	+	1	0	METTL7A	49610084	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.740000	0.62087	1.498000	0.48600	0.655000	0.94253	GAG		0.572	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		38	127	1	0	3.33393e-15	0.004878	4.18558e-15	38	127		
CSRNP2	81566	broad.mit.edu	37	12	51467852	51467852	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51467852C>T	ENST00000228515.1	-	3	462	c.165G>A	c.(163-165)ctG>ctA	p.L55L	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	55					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						TCTGCCGCTTCAGGATGGATG	0.493																																						uc001rxu.1		NaN																	0					0						c.(163-165)CTG>CTA		TGF-beta induced apoptosis protein 12							62.0	63.0	63.0					12																	51467852		2203	4300	6503	SO:0001819	synonymous_variant	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467852C>T	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.165G>A	12.37:g.51467852C>T							p.L55L	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			3	463	-			55						Silent	SNP	ENST00000228515.1	37	c.165G>A	CCDS8807.1																																																																																				0.493	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1				25	78	0	0	0	0.00333	0	25	78		
BIN2	51411	broad.mit.edu	37	12	51686023	51686023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:51686023C>G	ENST00000267012.4	-	10	928	c.867G>C	c.(865-867)gaG>gaC	p.E289D	BIN2_ENST00000544402.1_Missense_Mutation_p.E263D|BIN2_ENST00000452142.2_Missense_Mutation_p.E257D|BIN2_ENST00000604560.1_Missense_Mutation_p.E262D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	289					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGATTCACTCTCACTCTTCA	0.488																																						uc001ryg.2		NaN																	0				ovary(1)	1						c.(865-867)GAG>GAC		bridging integrator 2							73.0	73.0	73.0					12																	51686023		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51686023C>G	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.867G>C	12.37:g.51686023C>G	ENSP00000267012:p.Glu289Asp					BIN2_uc009zlz.2_Missense_Mutation_p.E257D|BIN2_uc001ryh.2_Missense_Mutation_p.E165D|BIN2_uc010sng.1_Missense_Mutation_p.E263D	p.E289D	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			10	919	-			289					Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.867G>C	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	9.669	1.146244	0.21288	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96856	-4.15;-0.2;-0.2	5.2	0.194	0.15143	.	1.910640	0.02665	N	0.107965	D	0.95124	0.8420	L	0.36672	1.1	0.09310	N	1	D;P;D	0.58620	0.983;0.506;0.972	P;B;P	0.57720	0.826;0.258;0.675	D	0.87454	0.2403	10	0.16896	T	0.51	-6.1426	3.8529	0.08963	0.1596:0.4943:0.0:0.3461	.	263;257;289	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	D	257;289;263	ENSP00000410217:E257D;ENSP00000267012:E289D;ENSP00000445874:E263D	ENSP00000267012:E289D	E	-	3	2	BIN2	49972290	0.003000	0.15002	0.079000	0.20413	0.037000	0.13140	-0.484000	0.06528	0.140000	0.18849	-0.140000	0.14226	GAG		0.488	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1				37	83	0	0	0	0.004289	0	37	83		
KRT6B	3854	broad.mit.edu	37	12	52843380	52843380	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:52843380G>T	ENST00000252252.3	-	5	997	c.950C>A	c.(949-951)tCc>tAc	p.S317Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	317	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TAGCACCACGGATGTGTCTGA	0.527																																						uc001sak.2		NaN																	0				ovary(2)	2						c.(949-951)TCC>TAC		keratin 6B							142.0	128.0	132.0					12																	52843380		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843380G>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.950C>A	12.37:g.52843380G>T	ENSP00000252252:p.Ser317Tyr						p.S317Y	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	998	-			317			Rod.|Linker 12.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.950C>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952135	0.53293	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87966	-2.32	3.05	2.15	0.27550	Filament (1);	0.000000	0.56097	D	0.000021	D	0.95105	0.8414	H	0.97291	3.975	0.47276	D	0.999372	D	0.89917	1.0	D	0.83275	0.996	D	0.94897	0.8053	10	0.87932	D	0	.	10.5708	0.45198	0.0984:0.0:0.9016:0.0	.	317	P04259	K2C6B_HUMAN	Y	317;277	ENSP00000252252:S317Y	ENSP00000252252:S317Y	S	-	2	0	KRT6B	51129647	1.000000	0.71417	0.172000	0.22920	0.654000	0.38779	4.479000	0.60236	0.877000	0.35895	0.298000	0.19748	TCC		0.527	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1		NM_005555		20	236	1	0	2.75727e-19	0.004878	3.49206e-19	20	236		
HOXC11	3227	broad.mit.edu	37	12	54367563	54367563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367563G>T	ENST00000546378.1	+	1	654	c.538G>T	c.(538-540)Gag>Tag	p.E180*	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Nonsense_Mutation_p.E180*			O43248	HXC11_HUMAN	homeobox C11	180					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GGCCAAGGGGGAGCCCGAGGC	0.721			T	NUP98	AML																																	uc001sem.2		NaN		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(538-540)GAG>TAG		homeobox C11							9.0	12.0	11.0					12																	54367563		2141	4168	6309	SO:0001587	stop_gained	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367563G>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.538G>T	12.37:g.54367563G>T	ENSP00000446680:p.Glu180*						p.E180*	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	654	+			180					A8K7D1|Q96DH2	Nonsense_Mutation	SNP	ENST00000546378.1	37	c.538G>T	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513836	0.96402	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	.	.	.	4.21	4.21	0.49690	.	0.046732	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	15.8687	0.79091	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000243082:E180X	E	+	1	0	HOXC11	52653830	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.822000	0.62686	2.338000	0.79540	0.555000	0.69702	GAG		0.721	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2				8	33	1	0	0.000157383	0.00308	0.000187454	8	33		
HOXC11	3227	broad.mit.edu	37	12	54367605	54367605	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54367605G>A	ENST00000546378.1	+	1	696	c.580G>A	c.(580-582)Gag>Aag	p.E194K	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E194K			O43248	HXC11_HUMAN	homeobox C11	194					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						GTCCCGGGCTGAGGCGGGTGC	0.756			T	NUP98	AML																																	uc001sem.2		NaN		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(580-582)GAG>AAG		homeobox C11							4.0	5.0	5.0					12																	54367605		1751	3447	5198	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367605G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.580G>A	12.37:g.54367605G>A	ENSP00000446680:p.Glu194Lys						p.E194K	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	696	+			194					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.580G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	4.078	0.012452	0.07912	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	D;T	0.91124	-2.79;1.85	4.22	4.22	0.49857	.	0.146179	0.64402	D	0.000010	T	0.81235	0.4780	N	0.08118	0	0.53688	D	0.999979	B	0.11235	0.004	B	0.06405	0.002	T	0.76675	-0.2872	10	0.37606	T	0.19	.	15.8882	0.79269	0.0:0.0:1.0:0.0	.	194	O43248	HXC11_HUMAN	K	194	ENSP00000446680:E194K;ENSP00000243082:E194K	ENSP00000243082:E194K	E	+	1	0	HOXC11	52653872	1.000000	0.71417	0.066000	0.19879	0.086000	0.17979	4.785000	0.62418	2.343000	0.79666	0.561000	0.74099	GAG		0.756	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2				7	13	0	0	0	0.001984	0	7	13		
HNRNPA1	3178	broad.mit.edu	37	12	54675946	54675946	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54675946G>C	ENST00000340913.6	+	4	405	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E118Q|RP11-968A15.8_ENST00000553061.1_RNA|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E118Q|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E118Q	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	118	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGACACTGAAGAACATCACCT	0.383																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NaN																	0				skin(2)|ovary(1)	3						c.(352-354)GAA>CAA		heterogeneous nuclear ribonucleoprotein A1							43.0	40.0	41.0					12																	54675946		1868	4091	5959	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675946G>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.352G>C	12.37:g.54675946G>C	ENSP00000341826:p.Glu118Gln					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zng.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009znh.2_Missense_Mutation_p.E118Q|HNRNPA1_uc009zni.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfn.2_Missense_Mutation_p.E118Q|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.E73Q|HNRNPA1_uc009znj.1_Missense_Mutation_p.E73Q	p.E118Q	NM_031157	NP_112420	P09651	ROA1_HUMAN			4	456	+			118			Globular B domain.|RRM 2.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.352G>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469797	0.84533	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	4.01	4.01	0.46588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	D	0.000034	D	0.95490	0.8535	M	0.80847	2.515	0.58432	D	0.999997	D;D;D;D;D;P;D;D	0.76494	0.982;0.991;0.999;0.978;0.997;0.93;0.999;0.998	P;P;D;P;D;P;D;D	0.66847	0.764;0.767;0.91;0.658;0.941;0.798;0.91;0.947	D	0.96041	0.9024	10	0.87932	D	0	.	14.4517	0.67389	0.0:0.0:1.0:0.0	.	96;118;118;118;118;118;118;118	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	Q	118;118;118;118;118;118;69;118;118;137;73	ENSP00000448617:E118Q;ENSP00000341826:E118Q;ENSP00000333504:E118Q;ENSP00000448117:E69Q;ENSP00000447260:E118Q;ENSP00000447782:E137Q;ENSP00000448917:E73Q	ENSP00000333504:E118Q	E	+	1	0	HNRNPA1	52962213	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.857000	0.99534	2.194000	0.70268	0.297000	0.19635	GAA		0.383	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1		NM_031157		14	35	0	0	0	0.00245	0	14	35		
NFE2	4778	broad.mit.edu	37	12	54686808	54686808	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686808G>A	ENST00000540264.2	-	2	981	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.L158F|NFE2_ENST00000312156.4_Missense_Mutation_p.L158F|NFE2_ENST00000435572.2_Missense_Mutation_p.L158F			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	158	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCCAGCTCAAGAGATTCAGCA	0.572																																						uc009znk.2		NaN																	0					0						c.(472-474)CTT>TTT		nuclear factor, erythroid derived 2 isoform 1							105.0	103.0	103.0					12																	54686808		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686808G>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.472C>T	12.37:g.54686808G>A	ENSP00000439120:p.Leu158Phe					NFE2_uc001sfq.2_Missense_Mutation_p.L158F|NFE2_uc001sfr.3_Missense_Mutation_p.L158F|NFE2_uc009znl.2_Missense_Mutation_p.L158F	p.L158F	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	982	-			158			Transactivation domain.		Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.472C>T	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257576	0.59321	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.384731	0.26023	N	0.026815	T	0.51686	0.1689	L	0.44542	1.39	0.31911	N	0.614628	D	0.59357	0.985	P	0.55055	0.767	T	0.59134	-0.7511	9	0.49607	T	0.09	-14.7448	11.3174	0.49401	0.0:0.0:0.8186:0.1814	.	158	Q16621	NFE2_HUMAN	F	158	.	ENSP00000312436:L158F	L	-	1	0	NFE2	52973075	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	1.034000	0.30204	2.824000	0.97209	0.655000	0.94253	CTT		0.572	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1		NM_006163		48	133	0	0	0	0.00361	0	48	133		
NFE2	4778	broad.mit.edu	37	12	54686810	54686810	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54686810G>A	ENST00000540264.2	-	2	979	c.470C>T	c.(469-471)tCt>tTt	p.S157F	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.S157F|NFE2_ENST00000312156.4_Missense_Mutation_p.S157F|NFE2_ENST00000435572.2_Missense_Mutation_p.S157F			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	157	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAGCTCAAGAGATTCAGCATC	0.567																																						uc009znk.2		NaN																	0					0						c.(469-471)TCT>TTT		nuclear factor, erythroid derived 2 isoform 1							106.0	104.0	104.0					12																	54686810		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686810G>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.470C>T	12.37:g.54686810G>A	ENSP00000439120:p.Ser157Phe					NFE2_uc001sfq.2_Missense_Mutation_p.S157F|NFE2_uc001sfr.3_Missense_Mutation_p.S157F|NFE2_uc009znl.2_Missense_Mutation_p.S157F	p.S157F	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	980	-			157			Transactivation domain.		Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.470C>T	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496034	0.85069	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	5.1	0.69264	.	0.119057	0.56097	D	0.000028	T	0.74496	0.3724	L	0.50333	1.59	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.75542	-0.3281	9	0.66056	D	0.02	-13.1044	16.4201	0.83755	0.0:0.0:1.0:0.0	.	157	Q16621	NFE2_HUMAN	F	157	.	ENSP00000312436:S157F	S	-	2	0	NFE2	52973077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.082000	0.64450	2.824000	0.97209	0.655000	0.94253	TCT		0.567	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1		NM_006163		50	133	0	0	0	0.00361	0	50	133		
GPR84	53831	broad.mit.edu	37	12	54756605	54756605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:54756605C>G	ENST00000551809.1	-	1	1666	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R344T			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCTGGACTCTGGCATCCAG	0.537																																						uc001sfu.2		NaN																	0				breast(2)	2						c.(1030-1032)AGA>ACA		G protein-coupled receptor 84							132.0	135.0	134.0					12																	54756605		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756605C>G	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1031G>C	12.37:g.54756605C>G	ENSP00000450310:p.Arg344Thr						p.R344T	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	1121	-			344			Extracellular (Potential).		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.1031G>C	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	3.902	-0.021768	0.07634	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.36157	1.27;1.27	5.21	-10.4	0.00318	GPCR, rhodopsin-like superfamily (1);	0.629809	0.13897	N	0.355168	T	0.16599	0.0399	N	0.19112	0.55	0.09310	N	1	B	0.23185	0.081	B	0.22152	0.038	T	0.12142	-1.0559	10	0.18276	T	0.48	0.043	13.0514	0.58957	0.0935:0.6261:0.0:0.2803	.	344	Q9NQS5	GPR84_HUMAN	T	344	ENSP00000267015:R344T;ENSP00000450310:R344T	ENSP00000267015:R344T	R	-	2	0	GPR84	53042872	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-1.531000	0.02219	-2.474000	0.00527	-0.140000	0.14226	AGA		0.537	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1				66	150	0	0	0	0.00361	0	66	150		
ERBB3	2065	broad.mit.edu	37	12	56481671	56481671	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56481671T>C	ENST00000267101.3	+	6	1146	c.706T>C	c.(706-708)Tca>Cca	p.S236P	ERBB3_ENST00000415288.2_Missense_Mutation_p.S177P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	236					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGGGGCTGCTCAGGCCCTCA	0.547																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(706-708)TCA>CCA		erbB-3 isoform 1 precursor							152.0	148.0	149.0					12																	56481671		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481671T>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.706T>C	12.37:g.56481671T>C	ENSP00000267101:p.Ser236Pro					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S177P|ERBB3_uc001sji.2_5'Flank	p.S236P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	899	+			236			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.706T>C	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176457	0.57692	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.66280	-0.2;-0.2	5.69	4.58	0.56647	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.351810	0.23517	N	0.047323	T	0.62392	0.2424	M	0.85945	2.785	0.80722	D	1	P	0.37955	0.612	B	0.37888	0.26	T	0.69439	-0.5145	10	0.87932	D	0	.	4.9735	0.14129	0.2508:0.0:0.2064:0.5427	.	236	P21860	ERBB3_HUMAN	P	236;236;177	ENSP00000267101:S236P;ENSP00000408340:S177P	ENSP00000267101:S236P	S	+	1	0	ERBB3	54767938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.390000	0.52523	2.169000	0.68431	0.533000	0.62120	TCA		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				49	140	0	0	0	0.00361	0	49	140		
MYL6	4637	broad.mit.edu	37	12	56553863	56553863	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56553863C>T	ENST00000550697.1	+	4	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MYL6_ENST00000547649.1_Missense_Mutation_p.R94W|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000536128.1_Missense_Mutation_p.R187W|MYL6_ENST00000547408.1_Missense_Mutation_p.R94W|MYL6_ENST00000293422.5_Missense_Mutation_p.R95W|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548400.1_Missense_Mutation_p.R58W|MYL6_ENST00000548580.1_Missense_Mutation_p.R46W|MYL6_ENST00000549566.1_Missense_Mutation_p.R139W|MYL6_ENST00000348108.4_Missense_Mutation_p.R95W|MYL6_ENST00000548293.1_Missense_Mutation_p.R94W|MYL6_ENST00000551589.1_Missense_Mutation_p.R94W|MYL6_ENST00000549017.1_5'UTR	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	94	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CGAAGGACTTCGGGTGTTTGA	0.512																																						uc001sjw.1		NaN																	0				ovary(1)	1						c.(280-282)CGG>TGG		myosin, light chain 6, alkali, smooth muscle and							83.0	80.0	81.0					12																	56553863		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56553863C>T	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.280C>T	12.37:g.56553863C>T	ENSP00000446955:p.Arg94Trp					MYL6_uc001sjv.2_Missense_Mutation_p.R94W|MYL6_uc001sjx.1_Missense_Mutation_p.R94W|MYL6_uc010sqd.1_Missense_Mutation_p.R187W|MYL6_uc001sjz.2_Missense_Mutation_p.R59W|MYL6_uc010sqe.1_Missense_Mutation_p.R59W	p.R94W	NM_021019	NP_066299	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		4	366	+			94			EF-hand 2.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.280C>T	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189903	0.38707	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000549392;ENST00000548400;ENST00000548293	D;D;D;D;D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.28	2.39	0.29439	EF-hand-like domain (1);	0.180420	0.47455	N	0.000235	D	0.90393	0.6993	H	0.96489	3.83	0.80722	D	1	P;P;B;B	0.48998	0.54;0.918;0.017;0.113	B;P;B;B	0.46237	0.043;0.508;0.008;0.06	D	0.91125	0.4933	10	0.87932	D	0	.	11.3938	0.49830	0.6064:0.3936:0.0:0.0	.	187;94;94;94	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	W	94;46;95;95;139;187;94;94;94;94;82;58;94	ENSP00000446955:R94W;ENSP00000446640:R46W;ENSP00000293422:R95W;ENSP00000301540:R95W;ENSP00000446709:R139W;ENSP00000441750:R187W;ENSP00000446714:R94W;ENSP00000446721:R94W;ENSP00000446687:R94W;ENSP00000450116:R82W;ENSP00000448859:R58W;ENSP00000448101:R94W	ENSP00000293422:R95W	R	+	1	2	MYL6	54840130	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	2.365000	0.44196	0.523000	0.28482	0.462000	0.41574	CGG		0.512	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3				27	63	0	0	0	0.005443	0	27	63		
TIMELESS	8914	broad.mit.edu	37	12	56822358	56822358	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:56822358C>A	ENST00000553532.1	-	12	1533	c.1383G>T	c.(1381-1383)gtG>gtT	p.V461V	TIMELESS_ENST00000229201.4_Silent_p.V460V|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCTCTCCCTCACAGCCTCAT	0.562																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1381-1383)GTG>GTT		timeless homolog							70.0	57.0	61.0					12																	56822358		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822358C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1383G>T	12.37:g.56822358C>A						TIMELESS_uc001slg.2_Silent_p.V460V	p.V461V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			12	1551	-			461						Silent	SNP	ENST00000553532.1	37	c.1383G>T	CCDS8918.1																																																																																				0.562	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		12	42	1	0	0.00136819	0.001368	0.00162558	12	42		
LEMD3	23592	broad.mit.edu	37	12	65639552	65639552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:65639552G>A	ENST00000308330.2	+	11	2517	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	831	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAATTCACGTGAGGTAAAGTA	0.313																																						uc001ssl.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2491-2493)GAG>AAG		LEM domain containing 3							124.0	133.0	130.0					12																	65639552		2203	4299	6502	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639552G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2491G>A	12.37:g.65639552G>A	ENSP00000308369:p.Glu831Lys					LEMD3_uc009zqo.1_Missense_Mutation_p.E830K	p.E831K	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	11	2497	+			831			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.2491G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419227	0.96092	.	.	ENSG00000174106	ENST00000308330	T	0.50001	0.76	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.58912	-0.7552	9	.	.	.	-14.3493	19.2776	0.94038	0.0:0.0:1.0:0.0	.	831	Q9Y2U8	MAN1_HUMAN	K	831	ENSP00000308369:E831K	.	E	+	1	0	LEMD3	63925819	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.755000	0.98912	2.621000	0.88768	0.643000	0.83706	GAG		0.313	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2				34	60	0	0	0	0.002096	0	34	60		
MDM1	56890	broad.mit.edu	37	12	68707440	68707440	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:68707440G>C	ENST00000303145.7	-	10	1679	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	MDM1_ENST00000411698.2_Silent_p.L496L|MDM1_ENST00000540418.1_Silent_p.L251L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	531					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGGAGTAGTGAGATCATGAT	0.408																																						uc001stz.2		NaN																	0				ovary(3)|skin(2)	5						c.(1591-1593)CTC>CTG		mouse Mdm1 nuclear protein homolog isoform 1							111.0	109.0	110.0					12																	68707440		2203	4300	6503	SO:0001819	synonymous_variant	56890					nucleus		g.chr12:68707440G>C	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1593C>G	12.37:g.68707440G>C						MDM1_uc010stc.1_Silent_p.L496L|MDM1_uc009zqv.1_Silent_p.L251L	p.L531L	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	10	1729	-			531					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	c.1593C>G	CCDS8983.1																																																																																				0.408	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1		NM_020128		24	158	0	0	0	0.00278	0	24	158		
TBC1D15	64786	broad.mit.edu	37	12	72316827	72316827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:72316827C>T	ENST00000550746.1	+	18	1983	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	TBC1D15_ENST00000319106.8_Missense_Mutation_p.S631L|TBC1D15_ENST00000393309.3_Missense_Mutation_p.S394L|TBC1D15_ENST00000485960.2_Missense_Mutation_p.S623L	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	640					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCAGATTCAGACGTTGGT	0.428																																						uc001swu.2		NaN																	0					0						c.(1984-1986)TCA>TTA		TBC1 domain family, member 15 isoform 1							229.0	196.0	207.0					12																	72316827		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72316827C>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1919C>T	12.37:g.72316827C>T	ENSP00000448182:p.Ser640Leu					TBC1D15_uc010stt.1_Missense_Mutation_p.S631L|TBC1D15_uc001swv.2_Missense_Mutation_p.S645L|TBC1D15_uc001sww.2_Missense_Mutation_p.S394L	p.S662L	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			18	1994	+			640					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1985C>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706463	0.30232	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.09445	3.25;3.26;3.26;2.98	5.7	4.8	0.61643	.	0.183014	0.39146	N	0.001442	T	0.09379	0.0231	L	0.38175	1.15	0.36498	D	0.868814	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.002;0.004;0.003	T	0.06770	-1.0808	10	0.59425	D	0.04	-10.1313	9.069	0.36480	0.1474:0.7792:0.0:0.0734	.	631;623;640	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	L	640;631;623;394	ENSP00000448182:S640L;ENSP00000318262:S631L;ENSP00000420678:S623L;ENSP00000376986:S394L	ENSP00000318262:S631L	S	+	2	0	TBC1D15	70603094	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.305000	0.43664	2.665000	0.90641	0.655000	0.94253	TCA		0.428	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		NM_022771		19	142	0	0	0	0.006122	0	19	142		
LRRIQ1	84125	broad.mit.edu	37	12	85466779	85466779	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:85466779C>T	ENST00000393217.2	+	11	2851	c.2790C>T	c.(2788-2790)gtC>gtT	p.V930V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	930										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGCACAAGTCTGGATTCCAA	0.403																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2788-2790)GTC>GTT		leucine-rich repeats and IQ motif containing 1							118.0	106.0	110.0					12																	85466779		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85466779C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2790C>T	12.37:g.85466779C>T						LRRIQ1_uc001tab.1_Silent_p.V930V	p.V930V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2901	+			930					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2790C>T	CCDS41816.1																																																																																				0.403	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		17	76	0	0	0	0.00499	0	17	76		
EEA1	8411	broad.mit.edu	37	12	93172980	93172980	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:93172980C>G	ENST00000322349.8	-	25	3829	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1189	Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTTCTCTTCTCCTGTTCAACA	0.388																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(3565-3567)GAG>CAG		early endosome antigen 1, 162kD							151.0	147.0	148.0					12																	93172980		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93172980C>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3565G>C	12.37:g.93172980C>G	ENSP00000317955:p.Glu1189Gln						p.E1189Q	NM_003566	NP_003557	Q15075	EEA1_HUMAN			25	3830	-			1189			Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3565G>C	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402123	0.62288	.	.	ENSG00000102189	ENST00000322349	T	0.67865	-0.29	5.63	4.74	0.60224	.	0.000000	0.53938	D	0.000052	T	0.72748	0.3499	L	0.36672	1.1	0.52501	D	0.999951	D	0.69078	0.997	D	0.75484	0.986	T	0.69785	-0.5051	10	0.27082	T	0.32	.	14.4103	0.67111	0.0:0.929:0.0:0.071	.	1189	Q15075	EEA1_HUMAN	Q	1189	ENSP00000317955:E1189Q	ENSP00000317955:E1189Q	E	-	1	0	EEA1	91697111	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	5.044000	0.64214	1.378000	0.46305	0.557000	0.71058	GAG		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		34	100	0	0	0	0.002445	0	34	100		
DEPDC4	120863	broad.mit.edu	37	12	100657378	100657378	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100657378C>G	ENST00000416321.1	-	2	453	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	151	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTGGAATCTTCAAATTCTAAT	0.333																																						uc001thi.2		NaN																	0					0						c.(451-453)GAA>CAA		DEP domain containing 4							72.0	75.0	74.0					12																	100657378		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100657378C>G	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.451G>C	12.37:g.100657378C>G	ENSP00000396234:p.Glu151Gln					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.E84Q|DEPDC4_uc009ztv.1_Missense_Mutation_p.E151Q|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	p.E151Q	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			2	454	-			151			DEP.		Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.451G>C	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487281	0.63962	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.93	4.93	0.64822	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.063718	0.64402	U	0.000011	T	0.37625	0.1010	L	0.39898	1.24	0.38406	D	0.945789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	T	0.30822	-0.9965	10	0.87932	D	0	.	14.8758	0.70493	0.0:1.0:0.0:0.0	.	151;84;151	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	Q	151;84;151;151;84;144	ENSP00000396234:E151Q;ENSP00000448385:E151Q;ENSP00000448338:E84Q;ENSP00000449590:E144Q	ENSP00000367490:E151Q	E	-	1	0	DEPDC4	99181509	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	6.614000	0.74197	2.285000	0.76669	0.563000	0.77884	GAA		0.333	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1		NM_152317		18	39	0	0	0	0.00499	0	18	39		
SLC17A8	246213	broad.mit.edu	37	12	100797851	100797851	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:100797851G>A	ENST00000323346.5	+	9	1402	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.M313I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	363					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACATGGTTATGACAATCGTTG	0.428																																						uc010svi.1		NaN																	0				ovary(3)	3						c.(1087-1089)ATG>ATA		solute carrier family 17 (sodium-dependent							118.0	117.0	117.0					12																	100797851		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797851G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1089G>A	12.37:g.100797851G>A	ENSP00000316909:p.Met363Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.M313I	p.M363I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			9	1402	+			363			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1089G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035964	0.93630	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.58940	0.42;0.3	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81394	0.4813	M	0.93462	3.42	0.80722	D	1	P;P	0.51351	0.944;0.619	P;B	0.59288	0.855;0.318	D	0.85842	0.1398	10	0.87932	D	0	.	19.6772	0.95941	0.0:0.0:1.0:0.0	.	363;313	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	363;313	ENSP00000316909:M363I;ENSP00000376715:M313I	ENSP00000316909:M363I	M	+	3	0	SLC17A8	99321982	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.796000	0.99103	2.653000	0.90120	0.557000	0.71058	ATG		0.428	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2		NM_139319		20	65	0	0	0	0.001523	0	20	65		
ALDH1L2	160428	broad.mit.edu	37	12	105456731	105456731	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:105456731C>G	ENST00000258494.9	-	7	996	c.856G>C	c.(856-858)Ggt>Cgt	p.G286R	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.G286R	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	286					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTCTTGGCACCTTTAATTTCC	0.403																																						uc001tlc.2		NaN																	0				skin(1)	1						c.(856-858)GGT>CGT		aldehyde dehydrogenase 1 family, member L2							83.0	79.0	80.0					12																	105456731		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105456731C>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.856G>C	12.37:g.105456731C>G	ENSP00000258494:p.Gly286Arg					ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.G286R	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			7	983	-			286					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.856G>C	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904035	0.92035	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.46063	0.88;0.88	5.49	5.49	0.81192	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.045850	0.85682	D	0.000000	T	0.73361	0.3577	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.79818	-0.1643	10	0.87932	D	0	.	19.3775	0.94517	0.0:1.0:0.0:0.0	.	286	Q3SY69	AL1L2_HUMAN	R	286	ENSP00000258494:G286R;ENSP00000389608:G286R	ENSP00000258494:G286R	G	-	1	0	ALDH1L2	103980861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.448000	0.66612	2.581000	0.87130	0.557000	0.71058	GGT		0.403	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1		XM_090294		19	55	0	0	0	0.008871	0	19	55		
SVOP	55530	broad.mit.edu	37	12	109306319	109306319	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109306319G>C	ENST00000299134.5	-	14	1442	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	RP11-423G4.7_ENST00000569754.1_lincRNA	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						CACTATTCCTGAGAGCCAGAG	0.632																																						uc010sxh.1		NaN																	0					0						c.(1639-1641)CAG>GAG		SV2 related protein							133.0	138.0	137.0					12																	109306319		2047	4217	6264	SO:0001819	synonymous_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109306319G>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1443C>G	12.37:g.109306319G>C							p.Q547E	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			15	1811	-			547			Cytoplasmic (Potential).		Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37	c.1639C>G																																																																																					0.632	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1		NM_018711		67	185	0	0	0	0.00361	0	67	185		
SVOP	55530	broad.mit.edu	37	12	109309593	109309593	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:109309593C>G	ENST00000299134.5	-	13	1209	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						AGCACCCACTCTTGCCATGCC	0.612																																						uc010sxh.1		NaN																	0					0						c.(1405-1407)AGA>ACA		SV2 related protein							32.0	37.0	35.0					12																	109309593		2085	4197	6282	SO:0001583	missense	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109309593C>G	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1210G>C	12.37:g.109309593C>G	ENSP00000299134:p.Glu404Gln						p.R469T	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			14	1578	-			469			Helical; (Potential).		Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37	c.1406G>C		.	.	.	.	.	.	.	.	.	.	C	19.20	3.780883	0.70222	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.8	4.92	0.64577	.	.	.	.	.	T	0.81880	0.4916	M	0.92459	3.31	.	.	.	.	.	.	.	.	.	D	0.88240	0.2909	4	.	.	.	-19.5313	13.9384	0.64039	0.0:0.9277:0.0:0.0723	.	.	.	.	Q	404	.	.	E	-	1	0	SVOP	107833722	1.000000	0.71417	0.797000	0.32132	0.399000	0.30720	7.375000	0.79646	1.460000	0.47911	-0.136000	0.14681	GAG		0.612	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1		NM_018711		4	11	0	0	0	0.001168	0	4	11		
ERP29	10961	broad.mit.edu	37	12	112460294	112460294	+	Missense_Mutation	SNP	G	G	C	rs200946700		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112460294G>C	ENST00000261735.3	+	3	774	c.624G>C	c.(622-624)aaG>aaC	p.K208N	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.K107N	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	208					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCATGGGGAAGATCTTAGACC	0.542																																						uc001ttk.1		NaN																	0					0						c.(622-624)AAG>AAC		endoplasmic reticulum protein 29 isoform 1							72.0	69.0	70.0					12																	112460294		2203	4300	6503	SO:0001583	missense	10961				intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity	g.chr12:112460294G>C	X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.624G>C	12.37:g.112460294G>C	ENSP00000261735:p.Lys208Asn					ERP29_uc001ttl.1_3'UTR	p.K208N	NM_006817	NP_006808	P30040	ERP29_HUMAN			3	742	+			208					C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	ENST00000261735.3	37	c.624G>C	CCDS9158.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805079	0.70682	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.57	3.75	0.43078	Endoplasmic reticulum, protein ERp29, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.86502	2.82	0.54753	D	0.999989	D	0.67145	0.996	P	0.53518	0.728	T	0.72704	-0.4213	9	0.62326	D	0.03	-8.9138	9.5559	0.39339	0.2145:0.0:0.7855:0.0	.	208	P30040	ERP29_HUMAN	N	208;107	.	ENSP00000261735:K208N	K	+	3	2	ERP29	110944677	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.372000	0.34261	0.710000	0.31997	-0.258000	0.10820	AAG		0.542	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405200.1				17	48	0	0	0	0.00499	0	17	48		
TRAFD1	10906	broad.mit.edu	37	12	112585913	112585913	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:112585913C>T	ENST00000257604.5	+	8	1580	c.963C>T	c.(961-963)ctC>ctT	p.L321L	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Silent_p.L321L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	321					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TACCTTCACTCAATACTGGCA	0.423																																						uc001ttp.2		NaN																	0					0						c.(961-963)CTC>CTT		TRAF-type zinc finger domain containing 1							75.0	69.0	71.0					12																	112585913		2203	4300	6503	SO:0001819	synonymous_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112585913C>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.963C>T	12.37:g.112585913C>T						TRAFD1_uc001tto.2_Silent_p.L321L|TRAFD1_uc010syj.1_RNA	p.L321L	NM_006700	NP_006691	O14545	TRAD1_HUMAN			8	1049	+			321					A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	c.963C>T	CCDS9160.1																																																																																				0.423	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1		NM_006700		15	47	0	0	0	0.003163	0	15	47		
OAS3	4940	broad.mit.edu	37	12	113376424	113376424	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:113376424G>A	ENST00000228928.7	+	1	268	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	OAS3_ENST00000548514.1_Missense_Mutation_p.R30Q|OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000551007.1_Missense_Mutation_p.R30Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	30	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGAAGGCGCGGCGCGCTCTG	0.721																																						uc001tug.2		NaN																	0				central_nervous_system(1)	1						c.(88-90)CGG>CAG		2'-5'oligoadenylate synthetase 3							9.0	11.0	10.0					12																	113376424		1797	3998	5795	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113376424G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.89G>A	12.37:g.113376424G>A	ENSP00000228928:p.Arg30Gln					OAS3_uc001tue.2_Missense_Mutation_p.R30Q|OAS3_uc001tuf.2_Missense_Mutation_p.R30Q	p.R30Q	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			1	176	+			30			OAS domain 1.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.89G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258683	0.59321	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.08282	3.11;3.11;3.11	3.0	3.0	0.34707	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.11750	0.0286	L	0.49640	1.575	0.80722	D	1	P;D;D	0.60160	0.787;0.957;0.987	B;P;P	0.49140	0.068;0.462;0.601	T	0.06534	-1.0821	9	0.39692	T	0.17	.	9.5588	0.39355	0.0:0.0:1.0:0.0	.	30;30;30	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	Q	30	ENSP00000228928:R30Q;ENSP00000449299:R30Q;ENSP00000448388:R30Q	ENSP00000228928:R30Q	R	+	2	0	OAS3	111860807	0.851000	0.29673	0.951000	0.38953	0.151000	0.21798	2.837000	0.48191	1.674000	0.50907	0.491000	0.48974	CGG		0.721	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1				6	31	0	0	0	0.001984	0	6	31		
FBXW8	26259	broad.mit.edu	37	12	117402587	117402587	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:117402587G>A	ENST00000309909.5	+	5	845	c.763G>A	c.(763-765)Gag>Aag	p.E255K	FBXW8_ENST00000455858.2_Missense_Mutation_p.E189K			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	255					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGAGGAGGATGAGCCTGGAAT	0.522																																						uc001twg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(763-765)GAG>AAG		F-box and WD repeat domain containing 8 isoform							181.0	157.0	165.0					12																	117402587		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117402587G>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.763G>A	12.37:g.117402587G>A	ENSP00000310686:p.Glu255Lys					FBXW8_uc001twf.1_Missense_Mutation_p.E189K|FBXW8_uc009zwp.1_RNA	p.E255K	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	5	845	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		255			WD 2.		Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.763G>A	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846186	0.71603	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.04360	3.64;3.64	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.444418	0.24431	N	0.038582	T	0.05502	0.0145	N	0.22421	0.69	0.36337	D	0.859231	P;P	0.44429	0.835;0.804	B;B	0.42386	0.283;0.386	T	0.54262	-0.8320	10	0.15952	T	0.53	-16.4563	19.469	0.94954	0.0:0.0:1.0:0.0	.	255;189	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	K	255;189;189	ENSP00000310686:E255K;ENSP00000389144:E189K	ENSP00000310686:E255K	E	+	1	0	FBXW8	115886970	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	6.860000	0.75473	2.906000	0.99361	0.655000	0.94253	GAG		0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1		NM_012174		19	176	0	0	0	0.008871	0	19	176		
CIT	11113	broad.mit.edu	37	12	120288075	120288075	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:120288075G>A	ENST00000261833.7	-	5	471	c.419C>T	c.(418-420)tCa>tTa	p.S140L	CIT_ENST00000392521.2_Missense_Mutation_p.S140L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCAAAAAATGAAACCTAGGG	0.393																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(418-420)TCA>TTA		citron							126.0	137.0	133.0					12																	120288075		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120288075G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.419C>T	12.37:g.120288075G>A	ENSP00000261833:p.Ser140Leu					CIT_uc001txj.1_Missense_Mutation_p.S140L	p.S140L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	5	472	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	140			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.419C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174543	0.38413	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.66280	-0.2;-0.2;-0.2	5.11	3.25	0.37280	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.198705	0.34291	N	0.004096	T	0.46737	0.1408	N	0.25031	0.7	0.50039	D	0.999841	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.51655	-0.8678	10	0.72032	D	0.01	.	11.8862	0.52604	0.1288:0.0:0.8712:0.0	.	140;140	Q2M5E1;O14578	.;CTRO_HUMAN	L	140;140;57	ENSP00000376306:S140L;ENSP00000261833:S140L;ENSP00000443199:S57L	ENSP00000261833:S140L	S	-	2	0	CIT	118772458	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.783000	0.62403	2.387000	0.81309	0.655000	0.94253	TCA		0.393	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		71	202	0	0	0	0.00361	0	71	202		
DDX55	57696	broad.mit.edu	37	12	124104529	124104529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124104529G>C	ENST00000238146.4	+	14	1695	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	DDX55_ENST00000421670.3_Missense_Mutation_p.E156Q|DDX55_ENST00000538744.1_Missense_Mutation_p.E518Q	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	549	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TATTGAAGATGAGGACATGGA	0.348																																						uc001ufi.2		NaN																	0				ovary(1)	1						c.(1645-1647)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							92.0	99.0	97.0					12																	124104529		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104529G>C	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1645G>C	12.37:g.124104529G>C	ENSP00000238146:p.Glu549Gln					DDX55_uc001ufk.2_Missense_Mutation_p.E402Q|DDX55_uc001ufl.2_Missense_Mutation_p.E156Q	p.E549Q	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	14	1669	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		549			Lys-rich.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1645G>C	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493404	0.84962	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.56776	0.44;0.44;0.44	5.6	5.6	0.85130	.	1.490940	0.03597	N	0.232737	T	0.75428	0.3848	M	0.77406	2.37	0.80722	D	1	D	0.56746	0.977	P	0.55577	0.779	T	0.65146	-0.6239	10	0.72032	D	0.01	-39.8933	19.6081	0.95588	0.0:0.0:1.0:0.0	.	549	Q8NHQ9	DDX55_HUMAN	Q	549;518;156	ENSP00000238146:E549Q;ENSP00000443114:E518Q;ENSP00000442332:E156Q	ENSP00000238146:E549Q	E	+	1	0	DDX55	122670482	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	8.771000	0.91751	2.628000	0.89032	0.549000	0.68633	GAG		0.348	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2				19	73	0	0	0	0.008871	0	19	73		
ATP6V0A2	23545	broad.mit.edu	37	12	124212437	124212437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124212437C>T	ENST00000330342.3	+	6	877	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	210					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTGGATGAATCCCTTGAAGAC	0.418																																						uc001ufr.2		NaN																	0				ovary(2)	2						c.(628-630)TCC>TTC		ATPase, H+ transporting, lysosomal V0 subunit							140.0	119.0	126.0					12																	124212437		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124212437C>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.629C>T	12.37:g.124212437C>T	ENSP00000332247:p.Ser210Phe					ATP6V0A2_uc001ufq.1_Missense_Mutation_p.S210F	p.S210F	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	6	877	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		210			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.629C>T	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175299	0.38413	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.85702	-2.02;-2.02	5.72	2.8	0.32819	.	0.670706	0.17084	N	0.187652	T	0.75889	0.3911	L	0.38175	1.15	0.54753	D	0.999984	B;B	0.25904	0.006;0.137	B;B	0.28784	0.094;0.057	T	0.70687	-0.4803	10	0.66056	D	0.02	-1.1771	4.0462	0.09774	0.2088:0.3084:0.4023:0.0805	.	210;210	Q9Y487;Q8TBM3	VPP2_HUMAN;.	F	210;210;80	ENSP00000332247:S210F;ENSP00000443441:S80F	ENSP00000332247:S210F	S	+	2	0	ATP6V0A2	122778390	0.586000	0.26782	0.649000	0.29536	0.898000	0.52572	0.679000	0.25291	0.748000	0.32831	0.462000	0.41574	TCC		0.418	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2		NM_012463		6	64	0	0	0	0.001168	0	6	64		
DNAH10	196385	broad.mit.edu	37	12	124398924	124398924	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:124398924G>A	ENST00000409039.3	+	60	10072	c.10047G>A	c.(10045-10047)ctG>ctA	p.L3349L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3349					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGCTGCTGGGGGACTGCC	0.607																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10045-10047)CTG>CTA		dynein, axonemal, heavy chain 10							54.0	60.0	58.0					12																	124398924		2064	4215	6279	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124398924G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10047G>A	12.37:g.124398924G>A							p.L3349L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	60	10072	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3349					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.10047G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989197	0.18966	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.28	-1.35	0.09114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.01256	0.2804:0.0997:0.3013:0.3186	.	.	.	.	X	277	.	.	W	+	2	0	DNAH10	122964877	1.000000	0.71417	0.892000	0.35008	0.783000	0.44284	1.605000	0.36815	-0.324000	0.08589	0.561000	0.74099	TGG		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				23	74	0	0	0	0.003954	0	23	74		
SFSWAP	6433	broad.mit.edu	37	12	132198734	132198734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:132198734G>C	ENST00000261674.4	+	2	478	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E113Q	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	113					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GTGTGATGAAGAGAGGTATTT	0.453																																						uc001uja.1		NaN																	0					0						c.(337-339)GAG>CAG		splicing factor, arginine/serine-rich 8							120.0	102.0	108.0					12																	132198734		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132198734G>C	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.337G>C	12.37:g.132198734G>C	ENSP00000261674:p.Glu113Gln					SFRS8_uc010tbn.1_Missense_Mutation_p.E113Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Missense_Mutation_p.K2N	p.E113Q	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	2	477	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		113					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.337G>C	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567986	0.86439	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000541286	T;T	0.40756	1.02;1.02	5.95	5.95	0.96441	Splicing factor, suppressor of white apricot (1);	0.095376	0.64402	D	0.000001	T	0.69584	0.3127	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.71474	-0.4582	10	0.87932	D	0	-43.8267	20.3931	0.98965	0.0:0.0:1.0:0.0	.	113;113	F5H6B8;Q12872	.;SFSWA_HUMAN	Q	113;50;113	ENSP00000261674:E113Q;ENSP00000437738:E113Q	ENSP00000261674:E113Q	E	+	1	0	SFSWAP	130764687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.714000	0.98744	2.824000	0.97209	0.655000	0.94253	GAG		0.453	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1		NM_004592		5	35	0	0	0	0.000602	0	5	35		
GOLGA3	2802	broad.mit.edu	37	12	133381374	133381374	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:133381374C>T	ENST00000450791.2	-	6	1708	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	GOLGA3_ENST00000545875.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E509K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E509K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E509K			Q08378	GOGA3_HUMAN	golgin A3	509					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACTGCTCCTCGGCCACCTGC	0.607																																						uc001ukz.1		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1525-1527)GAG>AAG		Golgi autoantigen, golgin subfamily a, 3							133.0	103.0	113.0					12																	133381374		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381374C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1525G>A	12.37:g.133381374C>T	ENSP00000410378:p.Glu509Lys					GOLGA3_uc001ula.1_Missense_Mutation_p.E509K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E509K	p.E509K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	7	2084	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	509			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1525G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081819	0.76528	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.977;0.977;0.997	P;P;P	0.57679	0.615;0.493;0.825	T	0.80879	-0.1185	10	0.52906	T	0.07	.	16.383	0.83481	0.0:0.868:0.132:0.0	.	509;509;509	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	509	ENSP00000204726:E509K;ENSP00000410378:E509K;ENSP00000409303:E509K;ENSP00000442143:E509K;ENSP00000442603:E509K	ENSP00000204726:E509K	E	-	1	0	GOLGA3	131891447	1.000000	0.71417	0.977000	0.42913	0.444000	0.32077	7.730000	0.84881	1.312000	0.45043	0.561000	0.74099	GAG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		28	66	0	0	0	0.00632	0	28	66		
PARP4	143	broad.mit.edu	37	13	25008601	25008601	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25008601C>T	ENST00000381989.3	-	31	4783	c.4678G>A	c.(4678-4680)Gaa>Aaa	p.E1560K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1560					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACACTATTTCATCCTCTTCT	0.398																																						uc001upl.2		NaN																	0				ovary(3)|skin(1)	4						c.(4678-4680)GAA>AAA		poly (ADP-ribose) polymerase family, member 4							139.0	125.0	130.0					13																	25008601		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008601C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4678G>A	13.37:g.25008601C>T	ENSP00000371419:p.Glu1560Lys						p.E1560K	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4784	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1560					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.4678G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	c	0.852	-0.738384	0.03111	.	.	ENSG00000102699	ENST00000381989	T	0.01705	4.68	3.11	0.203	0.15195	.	3.378180	0.01765	N	0.030797	T	0.01320	0.0043	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46105	-0.9215	10	0.12430	T	0.62	.	3.5112	0.07709	0.0:0.5279:0.2121:0.26	.	1560	Q9UKK3	PARP4_HUMAN	K	1560	ENSP00000371419:E1560K	ENSP00000371419:E1560K	E	-	1	0	PARP4	23906601	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.301000	0.19174	-0.131000	0.11578	0.462000	0.41574	GAA		0.398	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		16	96	0	0	0	0.003163	0	16	96		
MTMR6	9107	broad.mit.edu	37	13	25826037	25826037	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:25826037G>A	ENST00000381801.5	-	12	2193	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y	MTMR6_ENST00000540661.1_Missense_Mutation_p.H478Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	478	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTAAATCTGTGAGATTCGGAA	0.323																																						uc001uqf.3		NaN																	0				ovary(2)|skin(2)	4						c.(1432-1434)CAC>TAC		myotubularin related protein 6							115.0	132.0	126.0					13																	25826037		2203	4299	6502	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25826037G>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1432C>T	13.37:g.25826037G>A	ENSP00000371221:p.His478Tyr					MTMR6_uc001uqe.1_Missense_Mutation_p.H478Y	p.H478Y	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	12	1751	-		Lung SC(185;0.0225)|Breast(139;0.0351)	478			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1432C>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716466	0.15306	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.89810	-2.57;-2.57	5.43	4.56	0.56223	Myotubularin phosphatase domain (1);	0.688382	0.15690	N	0.249472	T	0.78910	0.4358	N	0.05330	-0.07	0.29568	N	0.850134	B;B	0.21688	0.0;0.059	B;B	0.20184	0.0;0.028	T	0.66814	-0.5828	10	0.21014	T	0.42	.	15.9749	0.80054	0.0:0.1353:0.8647:0.0	.	478;478	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Y	478;478;478;46	ENSP00000443161:H478Y;ENSP00000371221:H478Y	ENSP00000317987:H46Y	H	-	1	0	MTMR6	24724037	1.000000	0.71417	0.069000	0.20011	0.441000	0.31987	2.631000	0.46502	1.246000	0.43901	0.585000	0.79938	CAC		0.323	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1		NM_004685		29	204	0	0	0	0.008361	0	29	204		
CDK8	1024	broad.mit.edu	37	13	26928010	26928010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:26928010G>C	ENST00000381527.3	+	4	952	c.449G>C	c.(448-450)aGa>aCa	p.R150T	CDK8_ENST00000536792.1_Missense_Mutation_p.R150T	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTGTTGCACAGAGATTTGGTA	0.408																																						uc001uqr.1		NaN																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(448-450)AGA>ACA		cyclin-dependent kinase 8							158.0	133.0	142.0					13																	26928010		2202	4300	6502	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26928010G>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.449G>C	13.37:g.26928010G>C	ENSP00000370938:p.Arg150Thr					CDK8_uc001uqs.1_Missense_Mutation_p.R150T|CDK8_uc001uqt.1_5'UTR	p.R150T	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	4	475	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	150			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.449G>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933650	0.92458	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.64803	-0.12;-0.12	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	H	0.94183	3.505	0.80722	D	1	D;D	0.56746	0.972;0.977	P;P	0.62560	0.844;0.904	D	0.87845	0.2654	10	0.87932	D	0	-13.16	20.6525	0.99598	0.0:0.0:1.0:0.0	.	150;150	P49336-2;P49336	.;CDK8_HUMAN	T	150	ENSP00000370938:R150T;ENSP00000437696:R150T	ENSP00000370938:R150T	R	+	2	0	CDK8	25826010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.279000	0.95777	2.890000	0.99128	0.585000	0.79938	AGA		0.408	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1				7	44	0	0	0	0.004482	0	7	44		
USPL1	10208	broad.mit.edu	37	13	31232711	31232711	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:31232711C>T	ENST00000255304.4	+	9	2839	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	833					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCAGGCCCTCCATCGTCTAA	0.502																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NaN																	0				pancreas(2)|skin(1)	3						c.(2497-2499)CCA>TCA		ubiquitin specific peptidase like 1							74.0	73.0	73.0					13																	31232711		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232711C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2497C>T	13.37:g.31232711C>T	ENSP00000255304:p.Pro833Ser					USPL1_uc001utd.2_Missense_Mutation_p.P504S|USPL1_uc001ute.1_Missense_Mutation_p.P504S	p.P833S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2929	+		Lung SC(185;0.0257)|Breast(139;0.203)	833					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.2497C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	2.218	-0.379035	0.05000	.	.	ENSG00000132952	ENST00000255304	T	0.13657	2.57	5.21	2.04	0.26737	.	0.983883	0.08330	N	0.962488	T	0.13072	0.0317	L	0.56769	1.78	0.09310	N	1	B	0.23806	0.091	B	0.19946	0.027	T	0.40683	-0.9550	10	0.17369	T	0.5	0.263	5.7198	0.17980	0.1151:0.627:0.1125:0.1454	.	833	Q5W0Q7	USPL1_HUMAN	S	833	ENSP00000255304:P833S	ENSP00000255304:P833S	P	+	1	0	USPL1	30130711	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.024000	0.13555	0.587000	0.29643	0.655000	0.94253	CCA		0.502	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800		14	97	0	0	0	0.00499	0	14	97		
FRY	10129	broad.mit.edu	37	13	32811517	32811517	+	Splice_Site	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:32811517T>G	ENST00000380250.3	+	44	6308	c.5812T>G	c.(5812-5814)Tct>Gct	p.S1938A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1938						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATACCCAGCTCTTCCTCACC	0.453																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5812-5814)TCT>GCT		furry homolog							51.0	55.0	54.0					13																	32811517		1877	4108	5985	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811517T>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5811-1T>G	13.37:g.32811517T>G						FRY_uc010tdw.1_RNA	p.S1938A	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6308	+		Lung SC(185;0.0271)	1938					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5812T>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722711	0.30503	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.25414	1.8	5.84	5.84	0.93424	.	0.123758	0.56097	D	0.000032	T	0.17704	0.0425	N	0.20685	0.6	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08994	-1.0695	10	0.13470	T	0.59	.	16.2233	0.82274	0.0:0.0:0.0:1.0	.	1938	Q5TBA9	FRY_HUMAN	A	1938;775	ENSP00000369600:S1938A	ENSP00000369600:S1938A	S	+	1	0	FRY	31709517	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.067000	0.57527	2.243000	0.73865	0.482000	0.46254	TCT		0.453	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037	Missense_Mutation	10	42	0	0	0	0.008291	0	10	42		
AKAP11	11215	broad.mit.edu	37	13	42874796	42874796	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:42874796A>G	ENST00000025301.2	+	8	2089	c.1914A>G	c.(1912-1914)atA>atG	p.I638M		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	638					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAAGCAGATATTCACAAACA	0.398																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1912-1914)ATA>ATG		A-kinase anchor protein 11							72.0	67.0	69.0					13																	42874796		2203	4299	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874796A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1914A>G	13.37:g.42874796A>G	ENSP00000025301:p.Ile638Met						p.I638M	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2089	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	638					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1914A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	8.237	0.806057	0.16467	.	.	ENSG00000023516	ENST00000025301	T	0.18338	2.22	6.07	-4.3	0.03710	.	0.233991	0.41712	N	0.000824	T	0.05640	0.0148	N	0.17872	0.535	0.30544	N	0.76613	P	0.35872	0.525	B	0.30495	0.116	T	0.35151	-0.9800	10	0.21014	T	0.42	.	2.4165	0.04437	0.3112:0.337:0.2497:0.1021	.	638	Q9UKA4	AKA11_HUMAN	M	638	ENSP00000025301:I638M	ENSP00000025301:I638M	I	+	3	3	AKAP11	41772796	0.991000	0.36638	0.819000	0.32651	0.981000	0.71138	0.390000	0.20768	-0.998000	0.03446	-0.480000	0.04831	ATA		0.398	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		8	72	0	0	0	0.00308	0	8	72		
PCDH8	5100	broad.mit.edu	37	13	53421533	53421533	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:53421533C>T	ENST00000377942.3	-	1	1242	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	PCDH8_ENST00000338862.4_Missense_Mutation_p.V347I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGTCATTGACGTCTCGGATG	0.726																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(1039-1041)GTC>ATC		protocadherin 8 isoform 1 precursor							17.0	13.0	14.0					13																	53421533		2050	4084	6134	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421533C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1039G>A	13.37:g.53421533C>T	ENSP00000367177:p.Val347Ile					PCDH8_uc001vhj.2_Missense_Mutation_p.V347I	p.V347I	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1242	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	347			Extracellular (Potential).|Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1039G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053678	0.75960	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.62498	0.02;0.02	4.5	4.5	0.54988	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39834	N	0.001256	T	0.72170	0.3427	L	0.55990	1.75	0.54753	D	0.999984	D;P	0.64830	0.994;0.94	P;P	0.60886	0.88;0.483	T	0.73379	-0.4001	10	0.46703	T	0.11	.	16.3824	0.83473	0.0:1.0:0.0:0.0	.	347;347	O95206-2;O95206	.;PCDH8_HUMAN	I	347	ENSP00000367177:V347I;ENSP00000341350:V347I	ENSP00000341350:V347I	V	-	1	0	PCDH8	52319534	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.460000	0.66691	2.338000	0.79540	0.561000	0.74099	GTC		0.726	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		8	31	0	0	0	0.006214	0	8	31		
PCDH9	5101	broad.mit.edu	37	13	67802023	67802023	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:67802023C>A	ENST00000377865.2	-	1	684	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	PCDH9_ENST00000544246.1_Missense_Mutation_p.G184W|PCDH9_ENST00000328454.5_Missense_Mutation_p.G184W|PCDH9_ENST00000377861.3_Missense_Mutation_p.G184W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G184W			Q9HC56	PCDH9_HUMAN	protocadherin 9	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACACTCTGCCCATTTAACAAT	0.428																																						uc001vik.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(550-552)GGG>TGG		protocadherin 9 isoform 1 precursor							125.0	127.0	126.0					13																	67802023		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802023C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.550G>T	13.37:g.67802023C>A	ENSP00000367096:p.Gly184Trp					PCDH9_uc001vil.2_Missense_Mutation_p.G184W|PCDH9_uc010thl.1_Missense_Mutation_p.G184W|PCDH9_uc001vin.3_Missense_Mutation_p.G184W	p.G184W	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1242	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	184			Extracellular (Potential).|Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.550G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145978	0.57044	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.984;0.997;0.997;0.998	T	0.77907	-0.2412	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	184;184;184;184	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	W	184	ENSP00000442186:G184W;ENSP00000367096:G184W;ENSP00000401699:G184W;ENSP00000332060:G184W;ENSP00000367092:G184W	ENSP00000332060:G184W	G	-	1	0	PCDH9	66700024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		7	141	1	0	0.00198382	0.001984	0.00235119	7	141		
ITGBL1	9358	broad.mit.edu	37	13	102235651	102235651	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:102235651T>A	ENST00000376180.3	+	6	1032	c.813T>A	c.(811-813)tgT>tgA	p.C271*	ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.C130*|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.C178*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	271	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGTGAATGTGATGAGAGGG	0.502																																						uc001vpb.2		NaN																	0				ovary(1)|skin(1)	2						c.(811-813)TGT>TGA		integrin, beta-like 1 (with EGF-like repeat							261.0	248.0	252.0					13																	102235651		2203	4300	6503	SO:0001587	stop_gained	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235651T>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.813T>A	13.37:g.102235651T>A	ENSP00000365351:p.Cys271*					ITGBL1_uc010agb.2_Nonsense_Mutation_p.C222*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.C130*	p.C271*	NM_004791	NP_004782	O95965	ITGBL_HUMAN			6	1032	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		271			V.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Nonsense_Mutation	SNP	ENST00000376180.3	37	c.813T>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965475	0.53507	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	.	.	.	5.11	3.92	0.45320	.	0.042450	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.112	0.59278	0.0:0.0709:0.0:0.9291	.	.	.	.	X	271;179;130;130;178	.	ENSP00000365332:C178X	C	+	3	2	ITGBL1	101033652	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	0.795000	0.26972	0.350000	0.24002	-1.431000	0.01090	TGT		0.502	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2		NM_004791		33	141	0	0	0	0.002445	0	33	141		
MYO16	23026	broad.mit.edu	37	13	109613989	109613989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:109613989C>T	ENST00000357550.2	+	17	2115	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q692*|MYO16_ENST00000356711.2_Nonsense_Mutation_p.Q692*|MYO16_ENST00000457511.2_Nonsense_Mutation_p.Q204*	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCTGACCTCCAGCTCCTGGA	0.458																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2074-2076)CAG>TAG		myosin heavy chain Myr 8							167.0	132.0	144.0					13																	109613989		2203	4300	6503	SO:0001587	stop_gained	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109613989C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2074C>T	13.37:g.109613989C>T	ENSP00000350160:p.Gln692*					MYO16_uc010agk.1_Nonsense_Mutation_p.Q714*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q492*|MYO16_uc010tjh.1_Nonsense_Mutation_p.Q204*	p.Q692*	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		18	2200	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		692			Myosin head-like 1.			Nonsense_Mutation	SNP	ENST00000357550.2	37	c.2074C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	40	8.050989	0.98629	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	.	.	.	5.07	5.07	0.68467	.	0.000000	0.38778	U	0.001575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8196	0.88647	0.0:1.0:0.0:0.0	.	.	.	.	X	692;692;692;692;480;204	.	.	Q	+	1	0	MYO16	108411990	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.060000	0.71141	2.512000	0.84698	0.655000	0.94253	CAG		0.458	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		40	68	0	0	0	0.002222	0	40	68		
MCF2L	23263	broad.mit.edu	37	13	113720402	113720402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:113720402G>C	ENST00000375608.3	+	9	947	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	MCF2L_ENST00000434480.2_Missense_Mutation_p.E273Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.E271Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.E271Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.E265Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.E324Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.E300Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.E265Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.E297Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.E267Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	297					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGTGTCCTGGAGAGCCTCAG	0.642																																						uc001vsu.2		NaN																	0				ovary(1)|kidney(1)	2						c.(970-972)GAG>CAG		MCF.2 cell line derived transforming							91.0	76.0	81.0					13																	113720402		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113720402G>C	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.889G>C	13.37:g.113720402G>C	ENSP00000364758:p.Glu297Gln					MCF2L_uc001vsq.2_Missense_Mutation_p.E324Q|MCF2L_uc010tjr.1_Missense_Mutation_p.E267Q|MCF2L_uc001vsr.2_Missense_Mutation_p.E271Q|MCF2L_uc001vss.3_Missense_Mutation_p.E265Q|MCF2L_uc010tjs.1_Missense_Mutation_p.E265Q|MCF2L_uc001vst.1_Missense_Mutation_p.E229Q	p.E324Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			8	992	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	297					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.970G>C		.	.	.	.	.	.	.	.	.	.	G	11.14	1.552112	0.27739	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.0	3.26	0.37387	.	0.241551	0.41194	N	0.000934	T	0.53400	0.1794	M	0.75447	2.3	0.34437	D	0.69914	P;P;P;P;P;P	0.48162	0.696;0.696;0.696;0.57;0.906;0.57	P;P;P;B;P;B	0.52823	0.617;0.617;0.617;0.317;0.71;0.412	T	0.60707	-0.7210	10	0.25751	T	0.34	.	6.2044	0.20593	0.1635:0.1542:0.6823:0.0	.	265;267;324;229;265;297	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	Q	297;297;324;300;267;271;271;273;265;265;108	ENSP00000364758:E297Q;ENSP00000401422:E297Q;ENSP00000364754:E324Q;ENSP00000380225:E300Q;ENSP00000440374:E267Q;ENSP00000397285:E271Q;ENSP00000364751:E271Q;ENSP00000407722:E273Q;ENSP00000405639:E265Q;ENSP00000364747:E265Q	ENSP00000364747:E265Q	E	+	1	0	MCF2L	112768403	1.000000	0.71417	0.903000	0.35520	0.039000	0.13416	3.450000	0.52957	0.507000	0.28148	0.561000	0.74099	GAG		0.642	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4				9	19	0	0	0	0.006214	0	9	19		
ATP4B	496	broad.mit.edu	37	13	114309237	114309237	+	Missense_Mutation	SNP	C	C	T	rs142885298	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr13:114309237C>T	ENST00000335288.4	-	2	174	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	45					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			TAGAAGGCCACGTAGTACAGG	0.557													C|||	11	0.00219649	0.0	0.0014	5008	,	,		17704	0.0		0.001	False		,,,				2504	0.0092					uc001vtz.2		NaN																	0				ovary(1)	1						c.(133-135)GTG>ATG		hydrogen/potassium-exchanging ATPase 4B	Rabeprazole(DB01129)	C	MET/VAL	0,4406		0,0,2203	182.0	128.0	146.0		133	3.2	0.9	13	dbSNP_134	146	24,8576	16.6+/-54.9	0,24,4276	yes	missense	ATP4B	NM_000705.3	21	0,24,6479	TT,TC,CC		0.2791,0.0,0.1845	possibly-damaging	45/292	114309237	24,12982	2203	4300	6503	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114309237C>T		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.133G>A	13.37:g.114309237C>T	ENSP00000334216:p.Val45Met					ATP4B_uc010agy.1_Missense_Mutation_p.V45M	p.V45M	NM_000705	NP_000696	P51164	ATP4B_HUMAN	all cancers(43;0.171)		2	175	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	45			Helical; Signal-anchor for type II membrane protein; (Potential).		B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.133G>A	CCDS9539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.37	3.608276	0.66558	0.0	0.002791	ENSG00000186009	ENST00000335288	T	0.37915	1.17	4.02	3.15	0.36227	.	0.288040	0.26394	N	0.024629	T	0.55242	0.1908	M	0.76328	2.33	0.33710	D	0.615678	D	0.62365	0.991	P	0.62649	0.905	T	0.70092	-0.4967	10	0.56958	D	0.05	-6.3172	12.6971	0.57010	0.0:0.8322:0.1678:0.0	.	45	P51164	ATP4B_HUMAN	M	45	ENSP00000334216:V45M	ENSP00000334216:V45M	V	-	1	0	ATP4B	113357238	1.000000	0.71417	0.931000	0.37212	0.988000	0.76386	3.637000	0.54324	1.000000	0.39049	0.491000	0.48974	GTG		0.557	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2		NM_000705		34	51	0	0	0	0.002836	0	34	51		
PABPN1	8106	broad.mit.edu	37	14	23792231	23792231	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:23792231G>A	ENST00000216727.4	+	3	671	c.490G>A	c.(490-492)Gag>Aag	p.E164K	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.E191K|PABPN1_ENST00000397276.2_Missense_Mutation_p.E164K|PABPN1_ENST00000556821.1_Missense_Mutation_p.E36K|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000557702.1_Missense_Mutation_p.E36K|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.E191K	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	164	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTCCATTGAGGAGAAGAT	0.453																																						uc001wjk.2		NaN																	0				ovary(2)	2						c.(490-492)GAG>AAG		poly(A) binding protein, nuclear 1							136.0	142.0	140.0					14																	23792231		2203	4300	6503	SO:0001583	missense	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23792231G>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.490G>A	14.37:g.23792231G>A	ENSP00000216727:p.Glu164Lys					PABPN1_uc001wjh.3_Missense_Mutation_p.E191K|PABPN1_uc001wjj.2_Missense_Mutation_p.E164K	p.E164K	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	3	1772	+	all_cancers(95;6.69e-06)		164			Necessary for homooligomerization.		D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.490G>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761522	0.89932	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.74209	2.73;2.73;0.21;0.64;-0.82;-0.82	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.81983	0.4938	M	0.76838	2.35	0.80722	D	1	P;P;B	0.45428	0.778;0.858;0.196	B;P;B	0.51170	0.358;0.661;0.219	T	0.82408	-0.0472	10	0.40728	T	0.16	-6.6414	17.3849	0.87413	0.0:0.0:1.0:0.0	.	164;164;191	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	K	191;191;164;164;36;36	ENSP00000451320:E191K;ENSP00000452479:E191K;ENSP00000216727:E164K;ENSP00000380446:E164K;ENSP00000451970:E36K;ENSP00000450724:E36K	ENSP00000216727:E164K	E	+	1	0	PABPN1;RP11-124D2.2	22862071	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.746000	0.91604	2.474000	0.83562	0.561000	0.74099	GAG		0.453	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4		NM_004643		62	132	0	0	0	0.00361	0	62	132		
IPO4	79711	broad.mit.edu	37	14	24648862	24648862	+	IGR	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24648862G>C	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.E460Q|REC8_ENST00000311457.3_Missense_Mutation_p.E460Q	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGAACTCCCTGAGGTGCCCAT	0.627																																						uc001wmr.2		NaN																	0					0						c.(1381-1383)GAG>CAG		REC8 homolog							70.0	80.0	77.0					14																	24648862		2109	4218	6327	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648862G>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648862G>C						REC8_uc001wms.2_Missense_Mutation_p.E461Q	p.E461Q	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	19	1808	+			461			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1381G>C	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742873	0.69418	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.55052	0.54	5.53	5.53	0.82687	.	0.118844	0.53938	D	0.000043	T	0.61862	0.2381	L	0.34521	1.04	0.30181	N	0.800386	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57831	-0.7743	10	0.25751	T	0.34	-6.7356	16.4307	0.83841	0.0:0.0:1.0:0.0	.	444;461	O95072-2;O95072	.;REC8_HUMAN	Q	460;443	ENSP00000308699:E460Q	ENSP00000308699:E460Q	E	+	1	0	REC8	23718702	0.995000	0.38212	0.554000	0.28268	0.627000	0.37826	5.134000	0.64770	2.627000	0.88993	0.456000	0.33151	GAG		0.627	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		27	68	0	0	0	0.003954	0	27	68		
KHNYN	23351	broad.mit.edu	37	14	24901328	24901328	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:24901328C>G	ENST00000251343.5	+	3	1000	c.861C>G	c.(859-861)ctC>ctG	p.L287L	KHNYN_ENST00000553935.1_Silent_p.L287L|KHNYN_ENST00000556842.1_Silent_p.L287L|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	287							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AAGTGGCCCTCAGGCCACAGT	0.627											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3		NaN																	0				ovary(2)|liver(1)	3						c.(859-861)CTC>CTG		hypothetical protein LOC23351							74.0	77.0	76.0					14																	24901328		2203	4300	6503	SO:0001819	synonymous_variant	23351							g.chr14:24901328C>G	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.861C>G	14.37:g.24901328C>G			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Silent_p.L328L|KHNYN_uc010alw.2_Silent_p.L287L|CBLN3_uc001wpg.3_5'Flank	p.L287L	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	1063	+			287					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.861C>G	CCDS32058.1																																																																																				0.627	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1				8	46	0	0	0	0.004482	0	8	46		
RALGAPA1	253959	broad.mit.edu	37	14	36096603	36096603	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:36096603C>G	ENST00000389698.3	-	33	5422	c.5032G>C	c.(5032-5034)Gaa>Caa	p.E1678Q	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1691Q|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E1725Q|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1678Q	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1678	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAACATCTTCTTCATCTCTT	0.368																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(5032-5034)GAA>CAA		Ral GTPase activating protein, alpha subunit 1							96.0	100.0	99.0					14																	36096603		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096603C>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5032G>C	14.37:g.36096603C>G	ENSP00000374348:p.Glu1678Gln					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.E1678Q|RALGAPA1_uc010tpv.1_Missense_Mutation_p.E1691Q|RALGAPA1_uc010tpw.1_Missense_Mutation_p.E1725Q	p.E1678Q	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			33	5423	-			1678			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5032G>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	9.917	1.211241	0.22289	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96619	-3.35;-3.35;-3.35;-4.07;-3.34;-3.35	5.28	5.28	0.74379	.	0.089923	0.85682	D	0.000000	D	0.91088	0.7195	N	0.14661	0.345	0.40678	D	0.982273	B;B;B;B	0.24618	0.107;0.017;0.022;0.01	B;B;B;B	0.21360	0.034;0.009;0.009;0.005	D	0.88246	0.2913	10	0.29301	T	0.29	-17.95	14.8533	0.70316	0.0:0.8566:0.1434:0.0	.	1725;1691;1678;1678	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	Q	1678;1678;1678;1725;316;1691;1725	ENSP00000374348:E1678Q;ENSP00000302647:E1678Q;ENSP00000258840:E1725Q;ENSP00000451133:E316Q;ENSP00000371803:E1691Q;ENSP00000451877:E1725Q	ENSP00000258840:E1725Q	E	-	1	0	RALGAPA1	35166354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.803000	0.55560	2.612000	0.88384	0.655000	0.94253	GAA		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		11	121	0	0	0	0.000978	0	11	121		
MGAT2	4247	broad.mit.edu	37	14	50088560	50088560	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50088560G>A	ENST00000305386.2	+	1	1072	c.574G>A	c.(574-576)Gac>Aac	p.D192N	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	192					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGGTAGTGACCCTAGAGA	0.507																																						uc001wwr.2		NaN																	0					0						c.(574-576)GAC>AAC		mannosyl (alpha-1,6-)-glycoprotein							99.0	102.0	101.0					14																	50088560		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088560G>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.574G>A	14.37:g.50088560G>A	ENSP00000307423:p.Asp192Asn					SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	p.D192N	NM_002408	NP_002399	Q10469	MGAT2_HUMAN			1	1072	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		192			Lumenal (Potential).		B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.574G>A	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070377	0.93950	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.89875	-2.58	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.94481	0.7693	10	0.56958	D	0.05	-16.9148	20.1699	0.98157	0.0:0.0:1.0:0.0	.	192	Q10469	MGAT2_HUMAN	N	192;198	ENSP00000307423:D192N	ENSP00000307423:D192N	D	+	1	0	MGAT2	49158310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.328000	0.96403	2.868000	0.98415	0.555000	0.69702	GAC		0.507	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1		NM_002408		45	121	0	0	0	0.002222	0	45	121		
KLHDC1	122773	broad.mit.edu	37	14	50175883	50175883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:50175883G>T	ENST00000359332.2	+	2	193	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	35						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TTAGTCTATTGAAGACAATGA	0.289																																						uc001www.2		NaN																	0				pancreas(1)	1						c.(103-105)GAA>TAA		kelch domain containing 1							141.0	141.0	141.0					14																	50175883		2202	4299	6501	SO:0001587	stop_gained	122773					cytoplasm		g.chr14:50175883G>T	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.103G>T	14.37:g.50175883G>T	ENSP00000352282:p.Glu35*					SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_5'UTR|KLHDC1_uc010tqh.1_5'UTR	p.E35*	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN			2	131	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		35			Kelch 1.		B3KXD9|Q8WYI1	Nonsense_Mutation	SNP	ENST00000359332.2	37	c.103G>T	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	37	5.987413	0.97173	.	.	ENSG00000197776	ENST00000359332	.	.	.	5.76	5.76	0.90799	.	0.208227	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-24.2666	19.5662	0.95393	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000352282:E35X	E	+	1	0	KLHDC1	49245633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.724000	0.93272	0.579000	0.79373	GAA		0.289	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2		NM_172193		13	74	1	0	9.31168e-06	0.001855	1.12208e-05	13	74		
GNPNAT1	64841	broad.mit.edu	37	14	53248520	53248520	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:53248520G>A	ENST00000216410.3	-	4	514	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GNPNAT1_ENST00000554230.1_Silent_p.F38F	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	109	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.|Substrate binding.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					AGGAATGGATGAATTTATGTT	0.358																																						uc001xab.2		NaN																	0					0						c.(325-327)TTC>TTT		glucosamine-phosphate N-acetyltransferase 1							113.0	113.0	113.0					14																	53248520		2203	4299	6502	SO:0001819	synonymous_variant	64841				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53248520G>A	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.327C>T	14.37:g.53248520G>A							p.F109F	NM_198066	NP_932332	Q96EK6	GNA1_HUMAN			4	582	-	Breast(41;0.176)		109			Substrate binding.|N-acetyltransferase.			Silent	SNP	ENST00000216410.3	37	c.327C>T	CCDS9712.1																																																																																				0.358	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1				30	106	0	0	0	0.007291	0	30	106		
FBXO34	55030	broad.mit.edu	37	14	55817300	55817300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817300C>G	ENST00000313833.4	+	2	437	c.192C>G	c.(190-192)atC>atG	p.I64M	FBXO34_ENST00000440021.1_Missense_Mutation_p.I64M|FBXO34_ENST00000555087.1_3'UTR	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	64										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CATTTGGGATCCTTTCTCCAA	0.438																																						uc001xbu.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(190-192)ATC>ATG		F-box only protein 34							141.0	137.0	139.0					14																	55817300		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55817300C>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.192C>G	14.37:g.55817300C>G	ENSP00000313159:p.Ile64Met					FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.I64M	p.I64M	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	437	+			64					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.192C>G	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485072	0.26598	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.29917	1.55;1.55	5.0	2.95	0.34219	.	1.097310	0.07038	N	0.829695	T	0.40522	0.1120	L	0.57536	1.79	0.31520	N	0.662476	D	0.53885	0.963	P	0.53593	0.73	T	0.42882	-0.9425	10	0.51188	T	0.08	.	4.2137	0.10524	0.1811:0.5598:0.0:0.2591	.	64	Q9NWN3	FBX34_HUMAN	M	64	ENSP00000313159:I64M;ENSP00000394117:I64M	ENSP00000313159:I64M	I	+	3	3	FBXO34	54887053	0.998000	0.40836	0.997000	0.53966	0.566000	0.35808	1.418000	0.34782	1.267000	0.44247	0.655000	0.94253	ATC		0.438	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1				54	109	0	0	0	0.00361	0	54	109		
FBXO34	55030	broad.mit.edu	37	14	55817474	55817474	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:55817474C>G	ENST00000313833.4	+	2	611	c.366C>G	c.(364-366)ttC>ttG	p.F122L	FBXO34_ENST00000440021.1_Missense_Mutation_p.F122L|FBXO34_ENST00000555087.1_3'UTR	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	122										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATTGCATTCTTTGCATCCC	0.428																																						uc001xbu.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(364-366)TTC>TTG		F-box only protein 34							54.0	58.0	57.0					14																	55817474		2202	4300	6502	SO:0001583	missense	55030							g.chr14:55817474C>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.366C>G	14.37:g.55817474C>G	ENSP00000313159:p.Phe122Leu					FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.F122L	p.F122L	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	611	+			122					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.366C>G	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830824	0.71258	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.26660	1.72;1.72	5.14	5.14	0.70334	.	0.068015	0.64402	D	0.000017	T	0.45256	0.1333	M	0.72894	2.215	0.51233	D	0.99991	D	0.56521	0.976	P	0.54060	0.741	T	0.45293	-0.9271	10	0.66056	D	0.02	-13.0961	18.7952	0.91991	0.0:1.0:0.0:0.0	.	122	Q9NWN3	FBX34_HUMAN	L	122	ENSP00000313159:F122L;ENSP00000394117:F122L	ENSP00000313159:F122L	F	+	3	2	FBXO34	54887227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.963000	0.49184	2.675000	0.91044	0.655000	0.94253	TTC		0.428	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1				23	34	0	0	0	0.002299	0	23	34		
DAAM1	23002	broad.mit.edu	37	14	59819345	59819345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59819345G>A	ENST00000395125.1	+	18	2315	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	DAAM1_ENST00000360909.3_Missense_Mutation_p.M754I|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.M764I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	764	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTTTGAGATGAGCCGGTGAG	0.398																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(2290-2292)ATG>ATA		dishevelled-associated activator of							117.0	103.0	108.0					14																	59819345		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59819345G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2292G>A	14.37:g.59819345G>A	ENSP00000378557:p.Met764Ile					DAAM1_uc001xea.1_Missense_Mutation_p.M754I|DAAM1_uc001xec.1_5'Flank	p.M764I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	19	2417	+			764			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2292G>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244448	0.79912	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.15139	2.45;2.45;2.45	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.39898	1.24	0.80722	D	1	B;P	0.36683	0.416;0.565	B;P	0.49953	0.427;0.627	T	0.01030	-1.1475	10	0.12103	T	0.63	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	754;764	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	I	754;764;764;764	ENSP00000354162:M754I;ENSP00000247170:M764I;ENSP00000378557:M764I	ENSP00000247170:M764I	M	+	3	0	DAAM1	58889098	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.845000	0.99498	2.873000	0.98535	0.563000	0.77884	ATG		0.398	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		4	14	0	0	0	0.000248	0	4	14		
DAAM1	23002	broad.mit.edu	37	14	59834201	59834201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:59834201G>C	ENST00000395125.1	+	24	2934	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	DAAM1_ENST00000360909.3_Missense_Mutation_p.E961Q|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.E971Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	971	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACAACCAGATGAGTTCTTTGG	0.378																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(2911-2913)GAG>CAG		dishevelled-associated activator of							127.0	124.0	125.0					14																	59834201		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59834201G>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2911G>C	14.37:g.59834201G>C	ENSP00000378557:p.Glu971Gln					DAAM1_uc001xea.1_Missense_Mutation_p.E961Q|DAAM1_uc001xec.1_RNA	p.E971Q	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3036	+			971			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2911G>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991173	0.93106	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.17854	2.25;2.25;2.25	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.74467	2.265	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.61940	0.724;0.896	T	0.04495	-1.0947	10	0.45353	T	0.12	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	961;971	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	961;971;971	ENSP00000354162:E961Q;ENSP00000247170:E971Q;ENSP00000378557:E971Q	ENSP00000247170:E971Q	E	+	1	0	DAAM1	58903954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.941000	0.99782	0.655000	0.94253	GAG		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992		14	62	0	0	0	0.003163	0	14	62		
SIX1	6495	broad.mit.edu	37	14	61115580	61115580	+	Missense_Mutation	SNP	G	G	A	rs80356459		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:61115580G>A	ENST00000247182.6	-	1	600	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	110			R -> Q (in BOS3). {ECO:0000269|PubMed:18330911}.|R -> W (in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity). {ECO:0000269|PubMed:15141091, ECO:0000269|PubMed:18330911}.		aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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.R110G(1)|p.R110R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCGCACCCGATATTTGCCC	0.632																																						uc001xfb.3		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|breast(1)		0	GRCh37	CM041438	SIX1	M	rs80356459	c.(328-330)CGG>TGG		SIX homeobox 1							55.0	60.0	58.0					14																	61115580		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115580G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.328C>T	14.37:g.61115580G>A	ENSP00000247182:p.Arg110Trp						p.R110W	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	576	-			110		R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction).			Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.328C>T	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912368	0.92178	.	.	ENSG00000126778	ENST00000247182	D	0.93712	-3.27	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.97131	3.945	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98628	1.0670	9	0.87932	D	0	-21.0336	14.5323	0.67934	0.0:0.0:0.8534:0.1466	.	110	Q15475	SIX1_HUMAN	W	110	ENSP00000247182:R110W	ENSP00000247182:R110W	R	-	1	2	SIX1	60185333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.539000	0.67199	2.748000	0.94277	0.655000	0.94253	CGG		0.632	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3				43	76	0	0	0	0.007835	0	43	76		
GPHN	10243	broad.mit.edu	37	14	67291216	67291216	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:67291216G>A	ENST00000315266.5	+	4	1347	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GPHN_ENST00000459628.1_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.E76K|GPHN_ENST00000478722.1_Missense_Mutation_p.E76K|GPHN_ENST00000305960.9_Intron	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	76	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTGGTGTGATGAAAAGGAACT	0.398			T	MLL	AL																																	uc001xiy.2		NaN		Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				ovary(2)	2						c.(226-228)GAA>AAA		gephyrin isoform 2							96.0	90.0	92.0					14																	67291216		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67291216G>A	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.226G>A	14.37:g.67291216G>A	ENSP00000312771:p.Glu76Lys					GPHN_uc001xiw.2_Intron|GPHN_uc001xix.2_Missense_Mutation_p.E76K|GPHN_uc010tss.1_Missense_Mutation_p.E76K|GPHN_uc010tst.1_Intron|GPHN_uc010tsu.1_5'UTR	p.E76K	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	4	1347	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	76			MPT Mo-transferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.226G>A	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753381	0.49362	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000555456	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.48	5.48	0.80851	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.046743	0.85682	D	0.000000	T	0.68833	0.3044	L	0.35644	1.08	0.80722	D	1	B;B;B	0.30439	0.172;0.085;0.279	B;B;B	0.23275	0.042;0.042;0.045	T	0.64984	-0.6278	10	0.18276	T	0.48	-9.6865	19.3394	0.94335	0.0:0.0:1.0:0.0	.	76;76;76	F5H039;Q9NQX3;Q9NQX3-2	.;GEPH_HUMAN;.	K	76;76;76;9	ENSP00000312771:E76K;ENSP00000417901:E76K;ENSP00000438404:E76K;ENSP00000450706:E9K	ENSP00000312771:E76K	E	+	1	0	GPHN	66360969	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.334000	0.96470	2.579000	0.87056	0.305000	0.20034	GAA		0.398	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2		NM_020806		11	35	0	0	0	0.001368	0	11	35		
PCNX	22990	broad.mit.edu	37	14	71479708	71479708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:71479708C>G	ENST00000304743.2	+	11	3231	c.2785C>G	c.(2785-2787)Ctc>Gtc	p.L929V	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L929V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	929						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGCTCTCTCTCCCACAGAT	0.338																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(2785-2787)CTC>GTC		pecanex-like 1							92.0	89.0	90.0					14																	71479708		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71479708C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2785C>G	14.37:g.71479708C>G	ENSP00000304192:p.Leu929Val					PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank	p.L929V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	11	3231	+			929					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2785C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701874	0.30232	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.28255	1.62;1.62	5.11	5.11	0.69529	.	0.197548	0.45867	D	0.000326	T	0.17662	0.0424	N	0.14661	0.345	0.50171	D	0.999859	P	0.43750	0.816	B	0.34093	0.175	T	0.06092	-1.0846	10	0.19147	T	0.46	.	18.9018	0.92446	0.0:1.0:0.0:0.0	.	929	Q96RV3	PCX1_HUMAN	V	929	ENSP00000304192:L929V;ENSP00000238570:L929V	ENSP00000238570:L929V	L	+	1	0	PCNX	70549461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.180000	0.65048	2.538000	0.85594	0.557000	0.71058	CTC		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		9	62	0	0	0	0.006214	0	9	62		
DCAF4	26094	broad.mit.edu	37	14	73404761	73404761	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73404761C>G	ENST00000358377.2	+	2	295	c.75C>G	c.(73-75)ctC>ctG	p.L25L	DCAF4_ENST00000555042.1_Silent_p.L25L|DCAF4_ENST00000509153.1_Silent_p.L25L|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000353777.3_Silent_p.L25L|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000510612.1_3'UTR	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	25					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GGTTCAGACTCCGTGATTCTG	0.488																																						uc001xng.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(73-75)CTC>CTG		DDB1 and CUL4 associated factor 4 isoform 1							123.0	126.0	125.0					14																	73404761		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73404761C>G	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.75C>G	14.37:g.73404761C>G						DCAF4_uc001xnj.2_Silent_p.L25L|DCAF4_uc010ttr.1_Missense_Mutation_p.S14C|DCAF4_uc001xnh.2_Intron|DCAF4_uc010tts.1_Silent_p.L25L|DCAF4_uc010ttt.1_5'UTR|DCAF4_uc001xni.2_Silent_p.L25L|DCAF4_uc001xnk.2_Silent_p.L25L	p.L25L	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			2	295	+			25					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.75C>G	CCDS9809.1																																																																																				0.488	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1		NM_015604		35	102	0	0	0	0.004878	0	35	102		
RBM25	58517	broad.mit.edu	37	14	73576063	73576063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:73576063C>T	ENST00000261973.7	+	14	1840	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	RBM25_ENST00000527432.1_Nonsense_Mutation_p.Q519*|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	519	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGTGCTCTTCAGAAAAGGTT	0.428																																						uc001xno.2		NaN																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1555-1557)CAG>TAG		RNA binding motif protein 25							113.0	121.0	118.0					14																	73576063		2203	4300	6503	SO:0001587	stop_gained	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73576063C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1555C>T	14.37:g.73576063C>T	ENSP00000261973:p.Gln519*					RBM25_uc010ttu.1_Nonsense_Mutation_p.Q519*|RBM25_uc001xnp.2_Nonsense_Mutation_p.Q314*	p.Q519*	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	14	1763	+			519			Necessary for nuclear speckle localization.|Glu-rich.|Arg-rich.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Nonsense_Mutation	SNP	ENST00000261973.7	37	c.1555C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	41	9.102446	0.99066	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	519	.	ENSP00000261973:Q519X	Q	+	1	0	RBM25	72645816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.654000	0.83653	2.836000	0.97738	0.655000	0.94253	CAG		0.428	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1		XM_027330		37	118	0	0	0	0.00874	0	37	118		
FAM161B	145483	broad.mit.edu	37	14	74411204	74411204	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:74411204G>C	ENST00000534936.1	-	3	864	c.759C>G	c.(757-759)ctC>ctG	p.L253L	FAM161B_ENST00000286544.3_Silent_p.L316L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	253										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCAAAGAAGAGAGGAGCAGTT	0.567																																						uc001xpd.1		NaN																	0				ovary(1)	1						c.(757-759)CTC>CTG		hypothetical protein LOC145483							64.0	62.0	62.0					14																	74411204		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74411204G>C	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.759C>G	14.37:g.74411204G>C							p.L253L	NM_152445	NP_689658					3	865	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.759C>G																																																																																					0.567	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_152445		26	74	0	0	0	0.004656	0	26	74		
TMED8	283578	broad.mit.edu	37	14	77808143	77808143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77808143G>C	ENST00000216468.7	-	6	1004	c.949C>G	c.(949-951)Ctc>Gtc	p.L317V		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	317	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGAAGTAGAGAGTCTTGTTG	0.577																																						uc001xto.1		NaN																	0					0						c.(949-951)CTC>GTC		transmembrane emp24 protein transport domain							126.0	113.0	118.0					14																	77808143		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77808143G>C	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.949C>G	14.37:g.77808143G>C	ENSP00000216468:p.Leu317Val					TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.L161V	p.L317V	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	949	-			317			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.949C>G	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012198	0.75046	.	.	ENSG00000100580	ENST00000216468	T	0.31247	1.5	6.08	6.08	0.98989	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.43923	1.385	0.80722	D	1	D	0.52996	0.957	P	0.56751	0.805	T	0.08827	-1.0703	10	0.46703	T	0.11	-16.2279	20.2598	0.98436	0.0:0.0:1.0:0.0	.	317	Q6PL24	TMED8_HUMAN	V	317	ENSP00000216468:L317V	ENSP00000216468:L317V	L	-	1	0	TMED8	76877896	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.322000	0.72886	2.890000	0.99128	0.655000	0.94253	CTC		0.577	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1		NM_213601		38	86	0	0	0	0.002522	0	38	86		
AHSA1	10598	broad.mit.edu	37	14	77934848	77934848	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:77934848G>A	ENST00000216479.3	+	8	1001	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.E281K|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	281					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATCTTGGCCAGAGGGTAAGTA	0.343																																						uc001xtw.2		NaN																	0					0						c.(841-843)GAG>AAG		activator of heat shock 90kDa protein ATPase							113.0	116.0	115.0					14																	77934848		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77934848G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.841G>A	14.37:g.77934848G>A	ENSP00000216479:p.Glu281Lys					AHSA1_uc010tvk.1_Missense_Mutation_p.E281K	p.E281K	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	8	1001	+			281					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.841G>A	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906414	0.72868	.	.	ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000535854	.	.	.	5.31	5.31	0.75309	START-like domain (1);	0.315304	0.39210	N	0.001437	T	0.56426	0.1984	L	0.38649	1.16	0.80722	D	1	P;B	0.41848	0.763;0.04	P;B	0.48982	0.597;0.051	T	0.46748	-0.9169	9	0.21540	T	0.41	-18.7515	14.7279	0.69357	0.0:0.1444:0.8556:0.0	.	281;281	B4DUR9;O95433	.;AHSA1_HUMAN	K	146;281;281	.	ENSP00000216479:E281K	E	+	1	0	AHSA1	77004601	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.825000	0.48096	2.767000	0.95098	0.591000	0.81541	GAG		0.343	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1		NM_012111		18	61	0	0	0	0.008871	0	18	61		
EML5	161436	broad.mit.edu	37	14	89124543	89124543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:89124543C>T	ENST00000380664.5	-	26	3864	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	EML5_ENST00000554922.1_Missense_Mutation_p.E1289K|EML5_ENST00000352093.5_Missense_Mutation_p.E1251K			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1289						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATCTTCTTCAGAATCAATG	0.363																																						uc001xxg.2		NaN																	0				ovary(3)	3						c.(3865-3867)GAA>AAA		echinoderm microtubule associated protein like							99.0	89.0	92.0					14																	89124543		1838	4089	5927	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89124543C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3865G>A	14.37:g.89124543C>T	ENSP00000370039:p.Glu1289Lys					EML5_uc001xxf.2_Missense_Mutation_p.E84K|EML5_uc001xxh.1_Missense_Mutation_p.E428K	p.E1289K	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			27	4051	-			1289					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3865G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188501	0.94923	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.55052	0.82;0.54;0.86	4.61	4.61	0.57282	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	L	0.55743	1.74	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.81914	0.967;0.995	T	0.64723	-0.6340	10	0.33141	T	0.24	-28.1713	17.9931	0.89175	0.0:1.0:0.0:0.0	.	1289;1289	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	K	1289;1251;1289	ENSP00000451998:E1289K;ENSP00000298315:E1251K;ENSP00000370039:E1289K	ENSP00000298315:E1251K	E	-	1	0	EML5	88194296	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.534000	0.82004	2.550000	0.86006	0.557000	0.71058	GAA		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1				27	77	0	0	0	0.005443	0	27	77		
DDX24	57062	broad.mit.edu	37	14	94528596	94528596	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:94528596C>G	ENST00000330836.5	-	3	1221	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	DDX24_ENST00000555054.1_Missense_Mutation_p.E321Q|DDX24_ENST00000544005.1_Missense_Mutation_p.E114Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	364	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGTCTGCTCTTTATCAAGA	0.483																																						uc001ycj.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1090-1092)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							161.0	146.0	151.0					14																	94528596		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528596C>G	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1090G>C	14.37:g.94528596C>G	ENSP00000328690:p.Glu364Gln					DDX24_uc010twq.1_Missense_Mutation_p.E321Q|DDX24_uc010twr.1_Missense_Mutation_p.E114Q	p.E364Q	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1189	-		all_cancers(154;0.12)	364			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1090G>C	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161305	0.57368	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03468	4.02;3.92;4.02	5.49	3.65	0.41850	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.676984	0.15471	N	0.260640	T	0.03220	0.0094	N	0.19112	0.55	0.09310	N	0.999999	B	0.22003	0.063	B	0.24701	0.055	T	0.45818	-0.9235	10	0.23891	T	0.37	-0.1912	11.1205	0.48287	0.0:0.8009:0.1289:0.0702	.	364	Q9GZR7	DDX24_HUMAN	Q	364;114;309;321;321	ENSP00000328690:E364Q;ENSP00000440623:E114Q;ENSP00000452145:E321Q	ENSP00000328690:E364Q	E	-	1	0	DDX24	93598349	0.001000	0.12720	0.055000	0.19348	0.013000	0.08279	-0.057000	0.11768	0.777000	0.33496	0.655000	0.94253	GAG		0.483	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414		41	110	0	0	0	0.002852	0	41	110		
DYNC1H1	1778	broad.mit.edu	37	14	102493971	102493971	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102493971G>C	ENST00000360184.4	+	47	9228	c.9064G>C	c.(9064-9066)Gaa>Caa	p.E3022Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3022	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGTCTCTTTGAAGGAGACGA	0.542																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(9064-9066)GAA>CAA		cytoplasmic dynein 1 heavy chain 1							84.0	73.0	77.0					14																	102493971		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493971G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9064G>C	14.37:g.102493971G>C	ENSP00000348965:p.Glu3022Gln						p.E3022Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			47	9228	+			3022			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9064G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099280	0.94197	.	.	ENSG00000197102	ENST00000360184	T	0.42131	0.98	5.87	5.87	0.94306	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.103221	0.64402	D	0.000003	T	0.66790	0.2825	M	0.75884	2.315	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.64613	-0.6366	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	3022	Q14204	DYHC1_HUMAN	Q	3022	ENSP00000348965:E3022Q	ENSP00000348965:E3022Q	E	+	1	0	DYNC1H1	101563724	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.531000	0.98054	2.780000	0.95670	0.655000	0.94253	GAA		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		17	44	0	0	0	0.004007	0	17	44		
DYNC1H1	1778	broad.mit.edu	37	14	102502930	102502930	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr14:102502930G>A	ENST00000360184.4	+	57	11023	c.10859G>A	c.(10858-10860)aGa>aAa	p.R3620K	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3620	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGCCTTCAGAAAGAACTTA	0.468																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10858-10860)AGA>AAA		cytoplasmic dynein 1 heavy chain 1							150.0	131.0	137.0					14																	102502930		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102502930G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10859G>A	14.37:g.102502930G>A	ENSP00000348965:p.Arg3620Lys						p.R3620K	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			57	11023	+			3620			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10859G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532897	0.64972	.	.	ENSG00000197102	ENST00000360184	T	0.21361	2.01	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.51914	1.62	0.80722	D	1	P	0.49307	0.922	P	0.52646	0.705	T	0.01273	-1.1399	10	0.56958	D	0.05	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	3620	Q14204	DYHC1_HUMAN	K	3620	ENSP00000348965:R3620K	ENSP00000348965:R3620K	R	+	2	0	DYNC1H1	101572683	1.000000	0.71417	0.555000	0.28281	0.973000	0.67179	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	AGA		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		40	118	0	0	0	0.007835	0	40	118		
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:22369079C>T	ENST00000332663.2	+	1	602	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493																																						uc010tzu.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(502-504)TTC>TTT		olfactory receptor, family 4, subfamily M,							310.0	256.0	274.0					15																	22369079		2203	4300	6503	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369079C>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.504C>T	15.37:g.22369079C>T						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.F168F	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	504	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	168			Extracellular (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.504C>T	CCDS32172.1																																																																																				0.493	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1				68	406	0	0	0	0.00361	0	68	406		
MKRN3	7681	broad.mit.edu	37	15	23811021	23811021	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:23811021A>G	ENST00000314520.3	+	1	568	c.92A>G	c.(91-93)gAc>gGc	p.D31G	MKRN3_ENST00000568252.1_Missense_Mutation_p.D31G|MKRN3_ENST00000564592.1_Missense_Mutation_p.D31G|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	31					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTGGGCCGGACCTTCCCGTC	0.667																																						uc001ywh.3		NaN																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(91-93)GAC>GGC		makorin ring finger protein 3							31.0	38.0	36.0					15																	23811021		2201	4298	6499	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811021A>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.92A>G	15.37:g.23811021A>G	ENSP00000313881:p.Asp31Gly					MKRN3_uc001ywi.2_Missense_Mutation_p.D31G|MKRN3_uc010ayi.1_Missense_Mutation_p.D31G	p.D31G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	568	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	31						Missense_Mutation	SNP	ENST00000314520.3	37	c.92A>G	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	a	8.827	0.938924	0.18281	.	.	ENSG00000179455	ENST00000314520	T	0.31769	1.48	3.36	-1.85	0.07784	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.22312	-1.0220	9	0.49607	T	0.09	.	6.3463	0.21351	0.1491:0.5584:0.2925:0.0	.	31;31	Q6NSB6;Q13064	.;MKRN3_HUMAN	G	31	ENSP00000313881:D31G	ENSP00000313881:D31G	D	+	2	0	MKRN3	21362114	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.300000	0.08243	-0.346000	0.08312	-0.376000	0.06991	GAC		0.667	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664		3	40	0	0	0	0.004672	0	3	40		
OCA2	4948	broad.mit.edu	37	15	28277301	28277301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28277301G>T	ENST00000354638.3	-	3	391	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	OCA2_ENST00000353809.5_Missense_Mutation_p.S79Y|OCA2_ENST00000382996.2_Missense_Mutation_p.S79Y	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	79					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGGCAAAGAAGAGTGAGACCT	0.443									Oculocutaneous Albinism																													uc001zbh.3		NaN																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(235-237)TCT>TAT		oculocutaneous albinism II							80.0	84.0	83.0					15																	28277301		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28277301G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.236C>A	15.37:g.28277301G>T	ENSP00000346659:p.Ser79Tyr					OCA2_uc010ayv.2_Missense_Mutation_p.S79Y	p.S79Y	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	3	346	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	79			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.236C>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347192	0.01266	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.93247	-2.68;-2.69;-2.64;-3.19;-2.05	5.77	1.31	0.21738	.	0.297868	0.36665	N	0.002464	D	0.85716	0.5761	L	0.34521	1.04	0.09310	N	1	B;B	0.26002	0.139;0.086	B;B	0.26969	0.075;0.034	T	0.74551	-0.3628	10	0.40728	T	0.16	-0.0682	3.5603	0.07880	0.3395:0.1918:0.4687:0.0	.	79;79	Q04671-2;Q04671	.;P_HUMAN	Y	79	ENSP00000346659:S79Y;ENSP00000261276:S79Y;ENSP00000372457:S79Y;ENSP00000414425:S79Y;ENSP00000415431:S79Y	ENSP00000261276:S79Y	S	-	2	0	OCA2	25950896	0.142000	0.22610	0.000000	0.03702	0.008000	0.06430	1.476000	0.35420	0.372000	0.24591	-0.321000	0.08615	TCT		0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1		NM_000275		31	82	1	0	1.75199e-13	0.007291	2.18998e-13	31	82		
HERC2	8924	broad.mit.edu	37	15	28437183	28437183	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:28437183G>A	ENST00000261609.7	-	53	8483	c.8375C>T	c.(8374-8376)tCg>tTg	p.S2792L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACGGAGGACGACACATTCAG	0.587											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(8374-8376)TCG>TTG		hect domain and RLD 2							152.0	138.0	142.0					15																	28437183		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28437183G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8375C>T	15.37:g.28437183G>A	ENSP00000261609:p.Ser2792Leu		OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801	HERC2_uc001zbk.1_Missense_Mutation_p.S327L	p.S2792L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	53	8481	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2792			DOC.			Missense_Mutation	SNP	ENST00000261609.7	37	c.8375C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962947	0.92791	.	.	ENSG00000128731	ENST00000261609	T	0.81330	-1.48	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.135045	0.51477	D	0.000097	D	0.91696	0.7375	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.985;0.992	D	0.92606	0.6095	10	0.87932	D	0	.	19.7878	0.96445	0.0:0.0:1.0:0.0	.	259;2792	A8KAQ8;O95714	.;HERC2_HUMAN	L	2792	ENSP00000261609:S2792L	ENSP00000261609:S2792L	S	-	2	0	HERC2	26110778	1.000000	0.71417	0.799000	0.32177	0.976000	0.68499	9.752000	0.98900	2.749000	0.94314	0.579000	0.79373	TCG		0.587	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		53	166	0	0	0	0.00361	0	53	166		
ARHGAP11A	9824	broad.mit.edu	37	15	32929006	32929006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32929006C>T	ENST00000361627.3	+	12	2754	c.2032C>T	c.(2032-2034)Caa>Taa	p.Q678*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.Q489*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	678					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCACCCCTTCAAACTCAAAC	0.308																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NaN																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(2032-2034)CAA>TAA		Rho GTPase activating protein 11A isoform 1							22.0	24.0	24.0					15																	32929006		2163	4262	6425	SO:0001587	stop_gained	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929006C>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2032C>T	15.37:g.32929006C>T	ENSP00000355090:p.Gln678*					ARHGAP11A_uc010ubw.1_Nonsense_Mutation_p.Q489*|ARHGAP11A_uc010ubx.1_Nonsense_Mutation_p.Q489*	p.Q678*	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2754	+		all_lung(180;1.3e-11)	678					B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	ENST00000361627.3	37	c.2032C>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	40	8.175687	0.98691	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	4.88	3.96	0.45880	.	0.367563	0.23427	N	0.048288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.8419	0.88717	0.1247:0.8753:0.0:0.0	.	.	.	.	X	678;489	.	ENSP00000355090:Q678X	Q	+	1	0	ARHGAP11A	30716298	0.980000	0.34600	0.331000	0.25455	0.137000	0.21094	0.838000	0.27572	0.764000	0.33197	-0.824000	0.03097	CAA		0.308	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1		NM_014783		7	29	0	0	0	0.001984	0	7	29		
SCG5	6447	broad.mit.edu	37	15	32988730	32988730	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:32988730C>G	ENST00000300175.4	+	6	669	c.559C>G	c.(559-561)Cta>Gta	p.L187V	SCG5_ENST00000413748.2_Missense_Mutation_p.L186V|SCG5_ENST00000494364.1_Missense_Mutation_p.L168V|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000497208.1_Missense_Mutation_p.L169V	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	187					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CAATCCATATCTACAAGGACA	0.373																																						uc001zha.2		NaN																	0					0						c.(559-561)CTA>GTA		secretogranin V isoform 1							79.0	73.0	75.0					15																	32988730		1886	4123	6009	SO:0001583	missense	6447				intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding	g.chr15:32988730C>G	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.559C>G	15.37:g.32988730C>G	ENSP00000300175:p.Leu187Val					SCG5_uc001zgz.2_Missense_Mutation_p.L186V	p.L187V	NM_001144757	NP_001138229	P05408	7B2_HUMAN		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)	6	676	+		all_lung(180;7.32e-08)	187					P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	ENST00000300175.4	37	c.559C>G	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295603	0.60086	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208	.	.	.	5.08	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.79475	2.455	0.52099	D	0.999942	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.78718	-0.2095	9	0.87932	D	0	.	9.6727	0.40021	0.0:0.843:0.0:0.157	.	187;186	P05408;Q6FHD0	7B2_HUMAN;.	V	187;186;168;169	.	ENSP00000300175:L187V	L	+	1	2	SCG5	30776022	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.177000	0.31969	1.360000	0.45960	0.563000	0.77884	CTA		0.373	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1		NM_003020		13	26	0	0	0	0.00245	0	13	26		
FAM98B	283742	broad.mit.edu	37	15	38766480	38766480	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:38766480G>C	ENST00000491535.1	+	6	718	c.710G>C	c.(709-711)gGa>gCa	p.G237A	FAM98B_ENST00000397609.2_Missense_Mutation_p.G237A	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	237						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CAGTCCTTTGGATGGTCTGAT	0.428																																						uc001zkb.1		NaN																	0				ovary(1)	1						c.(709-711)GGA>GCA		family with sequence similarity 98, member B							275.0	242.0	253.0					15																	38766480		2200	4297	6497	SO:0001583	missense	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38766480G>C		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.710G>C	15.37:g.38766480G>C	ENSP00000453166:p.Gly237Ala					FAM98B_uc001zkc.2_Missense_Mutation_p.G237A	p.G237A	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	6	745	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	237					A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	c.710G>C	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205387	0.58234	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	D	0.85484	-1.99	4.79	4.79	0.61399	.	0.047651	0.85682	D	0.000000	D	0.83635	0.5297	L	0.47716	1.5	0.58432	D	0.999996	P;B	0.48162	0.906;0.359	P;B	0.53689	0.732;0.105	T	0.79337	-0.1845	10	0.05436	T	0.98	-21.5587	12.8042	0.57603	0.0791:0.0:0.9209:0.0	.	237;237	A8MUW5;Q52LJ0	.;FA98B_HUMAN	A	237	ENSP00000380734:G237A	ENSP00000303412:G237A	G	+	2	0	FAM98B	36553772	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.789000	0.85783	2.638000	0.89438	0.460000	0.39030	GGA		0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2		NM_173611		18	188	0	0	0	0.007413	0	18	188		
KNSTRN	90417	broad.mit.edu	37	15	40675092	40675092	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:40675092C>T	ENST00000249776.8	+	1	171	c.56C>T	c.(55-57)tCt>tTt	p.S19F	KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000416151.2_Missense_Mutation_p.S19F|KNSTRN_ENST00000448395.2_Missense_Mutation_p.S19F	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		ACATGGCTGTCTACAGAGTGC	0.592																																						uc001zll.2		NaN																	0				ovary(1)|skin(1)	2						c.(55-57)TCT>TTT		TRAF4 associated factor 1 isoform a							39.0	42.0	41.0					15																	40675092		1886	4106	5992	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40675092C>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.56C>T	15.37:g.40675092C>T	ENSP00000249776:p.Ser19Phe					C15orf23_uc010ucp.1_Missense_Mutation_p.S19F|C15orf23_uc001zlo.2_Missense_Mutation_p.S19F|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.S19F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	1	171	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	19						Missense_Mutation	SNP	ENST00000249776.8	37	c.56C>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077250	0.36662	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.28895	1.59;1.59;1.59	4.63	3.72	0.42706	.	0.297357	0.24662	N	0.036629	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	P;P;P	0.39157	0.662;0.662;0.662	B;B;B	0.34180	0.177;0.177;0.128	T	0.10451	-1.0629	10	0.87932	D	0	-1.6767	8.8482	0.35184	0.0:0.897:0.0:0.103	.	19;19;19	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	F	19	ENSP00000249776:S19F;ENSP00000391233:S19F;ENSP00000393001:S19F	ENSP00000249776:S19F	S	+	2	0	C15orf23	38462384	0.002000	0.14202	0.106000	0.21319	0.006000	0.05464	0.594000	0.24014	1.305000	0.44909	-0.140000	0.14226	TCT		0.592	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1		NM_001142761		6	44	0	0	0	0.001168	0	6	44		
NUSAP1	51203	broad.mit.edu	37	15	41648287	41648287	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:41648287G>T	ENST00000559596.1	+	5	586	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000450592.2_Missense_Mutation_p.D144Y|NUSAP1_ENST00000560747.1_Missense_Mutation_p.D166Y|NUSAP1_ENST00000450318.1_Missense_Mutation_p.D167Y|NUSAP1_ENST00000260359.6_Missense_Mutation_p.D152Y|NUSAP1_ENST00000414849.2_Missense_Mutation_p.D167Y			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	167					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TCTCTACACAGATGAGTCATC	0.358																																						uc001zns.3		NaN																	0					0						c.(499-501)GAT>TAT		nucleolar and spindle associated protein 1							60.0	57.0	58.0					15																	41648287		1821	4075	5896	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41648287G>T	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.499G>T	15.37:g.41648287G>T	ENSP00000453403:p.Asp167Tyr					NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.D167Y|NUSAP1_uc010bce.2_Missense_Mutation_p.D167Y|NUSAP1_uc001znt.3_Missense_Mutation_p.D152Y|NUSAP1_uc001znv.3_Missense_Mutation_p.D166Y|NUSAP1_uc001znu.3_Missense_Mutation_p.D166Y|NUSAP1_uc010ucw.1_Missense_Mutation_p.D144Y|NUSAP1_uc001znw.3_5'UTR	p.D167Y	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	5	729	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	167					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.499G>T	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162526	0.21538	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T	0.38887	1.11;1.11;1.11	5.14	2.2	0.27929	.	0.560222	0.21420	N	0.074823	T	0.58481	0.2125	M	0.76838	2.35	0.20638	N	0.999877	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.976;1.0;1.0	D;D;D;D;P;D;D	0.97110	1.0;1.0;1.0;0.999;0.693;1.0;1.0	T	0.46359	-0.9197	10	0.56958	D	0.05	.	5.3985	0.16283	0.1709:0.1669:0.6623:0.0	.	144;167;166;166;167;167;167	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	Y	167;167;167;144	ENSP00000400746:D167Y;ENSP00000401351:D167Y;ENSP00000401014:D144Y	ENSP00000260359:D167Y	D	+	1	0	NUSAP1	39435579	0.759000	0.28416	0.159000	0.22649	0.069000	0.16628	0.714000	0.25808	0.408000	0.25621	-0.469000	0.05056	GAT		0.358	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1		NM_016359		5	20	1	0	0.00198382	0.001984	0.00235119	5	20		
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42021428C>T	ENST00000570161.1	+	10	3724	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R1242*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1242*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCGAGTTCGAGTATATGA	0.413																																						uc010ucy.1		NaN																	1	Substitution - Nonsense(1)	p.R1242P(1)	large_intestine(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(3724-3726)CGA>TGA		MAX-interacting protein isoform 1							97.0	98.0	98.0					15																	42021428		1908	4126	6034	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42021428C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3724C>T	15.37:g.42021428C>T	ENSP00000457035:p.Arg1242*					MGA_uc010ucz.1_Nonsense_Mutation_p.R1242*	p.R1242*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	11	3905	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1242					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.3724C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	43	10.435664	0.99404	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.65	5.65	0.86999	.	0.308803	0.26757	N	0.022652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.869	0.70441	0.1436:0.8564:0.0:0.0	.	.	.	.	X	1242	.	ENSP00000219905:R1242X	R	+	1	2	MGA	39808720	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.727000	0.38095	2.817000	0.96982	0.563000	0.77884	CGA		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		12	46	0	0	0	0.001368	0	12	46		
MGA	23269	broad.mit.edu	37	15	42028655	42028655	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028655C>G	ENST00000570161.1	+	12	4193	c.4193C>G	c.(4192-4194)tCt>tGt	p.S1398C	MGA_ENST00000545763.1_Missense_Mutation_p.S1398C|MGA_ENST00000389936.4_Missense_Mutation_p.S1398C|MGA_ENST00000566586.1_Missense_Mutation_p.S1398C|MGA_ENST00000219905.7_Missense_Mutation_p.S1398C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1398F(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGAAAATCTCTATGCCATCA	0.468																																						uc010ucy.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(4192-4194)TCT>TGT		MAX-interacting protein isoform 1							65.0	63.0	63.0					15																	42028655		1884	4109	5993	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42028655C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4193C>G	15.37:g.42028655C>G	ENSP00000457035:p.Ser1398Cys					MGA_uc010ucz.1_Missense_Mutation_p.S1398C|MGA_uc010uda.1_Intron	p.S1398C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	13	4374	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1398					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4193C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297245	0.81025	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;D	0.88586	2.18;2.18;-2.4	5.82	5.82	0.92795	.	0.602060	0.14946	N	0.289217	D	0.92143	0.7509	L	0.29908	0.895	0.44702	D	0.997694	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92330	0.5873	10	0.87932	D	0	.	20.0938	0.97831	0.0:1.0:0.0:0.0	.	1398;1398	F5H7K2;E7ENI0	.;.	C	1398	ENSP00000219905:S1398C;ENSP00000374586:S1398C;ENSP00000442467:S1398C	ENSP00000219905:S1398C	S	+	2	0	MGA	39815947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.757000	0.94681	0.585000	0.79938	TCT		0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		17	56	0	0	0	0.00499	0	17	56		
MGA	23269	broad.mit.edu	37	15	42028795	42028795	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42028795C>T	ENST00000570161.1	+	12	4333	c.4333C>T	c.(4333-4335)Cat>Tat	p.H1445Y	MGA_ENST00000545763.1_Missense_Mutation_p.H1445Y|MGA_ENST00000389936.4_Missense_Mutation_p.H1445Y|MGA_ENST00000566586.1_Missense_Mutation_p.H1445Y|MGA_ENST00000219905.7_Missense_Mutation_p.H1445Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGAGATTACATGGAGGCAA	0.493																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(4333-4335)CAT>TAT		MAX-interacting protein isoform 1							57.0	54.0	55.0					15																	42028795		1913	4127	6040	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42028795C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4333C>T	15.37:g.42028795C>T	ENSP00000457035:p.His1445Tyr					MGA_uc010ucz.1_Missense_Mutation_p.H1445Y|MGA_uc010uda.1_Intron	p.H1445Y	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	13	4514	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1445					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4333C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263480	0.80358	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85861	-2.01;-2.04;-1.94	5.68	5.68	0.88126	.	0.372091	0.22513	N	0.059061	D	0.84151	0.5409	N	0.19112	0.55	0.33069	D	0.53514	D;D	0.59357	0.981;0.985	P;P	0.52823	0.642;0.71	D	0.88281	0.2936	10	0.87932	D	0	.	18.7692	0.91883	0.0:1.0:0.0:0.0	.	1445;1445	F5H7K2;E7ENI0	.;.	Y	1445	ENSP00000219905:H1445Y;ENSP00000374586:H1445Y;ENSP00000442467:H1445Y	ENSP00000219905:H1445Y	H	+	1	0	MGA	39816087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.801000	0.55545	2.670000	0.90874	0.585000	0.79938	CAT		0.493	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		13	47	0	0	0	0.001855	0	13	47		
MGA	23269	broad.mit.edu	37	15	42042799	42042799	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42042799G>C	ENST00000570161.1	+	16	6994	c.6994G>C	c.(6994-6996)Gat>Cat	p.D2332H	MGA_ENST00000545763.1_Missense_Mutation_p.D2123H|MGA_ENST00000389936.4_Missense_Mutation_p.D2293H|MGA_ENST00000566586.1_Missense_Mutation_p.D2123H|MGA_ENST00000219905.7_Missense_Mutation_p.D2332H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGGAGGTTGATGATGTAGA	0.348																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(6994-6996)GAT>CAT		MAX-interacting protein isoform 1							114.0	100.0	104.0					15																	42042799		1870	4105	5975	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042799G>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6994G>C	15.37:g.42042799G>C	ENSP00000457035:p.Asp2332His					MGA_uc010ucz.1_Missense_Mutation_p.D2123H|MGA_uc010uda.1_Missense_Mutation_p.D948H|MGA_uc001zoi.2_Missense_Mutation_p.D546H	p.D2332H	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	7175	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2293			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6994G>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251518	0.39797	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84223	-1.82;-1.82;-1.82	4.86	4.86	0.63082	.	0.602899	0.15630	N	0.252420	D	0.85974	0.5822	N	0.24115	0.695	0.26773	N	0.969765	D;D;D;D	0.89917	0.995;0.997;0.995;1.0	P;D;P;D	0.68765	0.831;0.919;0.831;0.96	T	0.77874	-0.2425	10	0.37606	T	0.19	.	13.3519	0.60607	0.0:0.0:1.0:0.0	.	948;2123;2332;2293	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	2332;2293;2123	ENSP00000219905:D2332H;ENSP00000374586:D2293H;ENSP00000442467:D2123H	ENSP00000219905:D2332H	D	+	1	0	MGA	39830091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.962000	0.40442	2.530000	0.85305	0.591000	0.81541	GAT		0.348	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		5	19	0	0	0	0.001168	0	5	19		
MAPKBP1	23005	broad.mit.edu	37	15	42092064	42092064	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092064G>T	ENST00000456763.2	+	3	354	c.158G>T	c.(157-159)aGa>aTa	p.R53I	MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R53I|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R53I|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R53I	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	53										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCTGGAGGCAGAGGACTTGCC	0.498																																						uc001zok.3		NaN																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(157-159)AGA>ATA		mitogen-activated protein kinase binding protein							176.0	149.0	158.0					15																	42092064		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42092064G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.158G>T	15.37:g.42092064G>T	ENSP00000393099:p.Arg53Ile					MAPKBP1_uc001zoj.3_Missense_Mutation_p.R53I|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.R53I|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR	p.R53I	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	3	444	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	53					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.158G>T	CCDS45239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.11|18.11	3.551716|3.551716	0.65311|0.65311	.|.	.|.	ENSG00000137802|ENSG00000137802	ENST00000507762|ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	.|T;T;T;T;T	.|0.58652	.|5.0;0.32;5.0;5.0;2.22	5.08|5.08	4.16|4.16	0.48862|0.48862	.|WD40 repeat-like-containing domain (1);	.|0.183255	.|0.46442	.|D	.|0.000295	T|T	0.53997|0.53997	0.1831|0.1831	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.52170	.|0.951;0.04;0.031	.|P;B;B	.|0.48400	.|0.576;0.031;0.029	T|T	0.49418|0.49418	-0.8942|-0.8942	5|10	.|0.22706	.|T	.|0.39	-5.2788|-5.2788	11.0594|11.0594	0.47938|0.47938	0.0873:0.0:0.9127:0.0|0.0873:0.0:0.9127:0.0	.|.	.|53;53;53	.|O60336-2;O60336;O60336-6	.|.;MABP1_HUMAN;.	H|I	33|53	.|ENSP00000397570:R53I;ENSP00000221214:R53I;ENSP00000393099:R53I;ENSP00000426154:R53I;ENSP00000422132:R53I	.|ENSP00000221214:R53I	Q|R	+|+	3|2	2|0	MAPKBP1|MAPKBP1	39879356|39879356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.176000|6.176000	0.71955|0.71955	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.498	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		NM_014994		61	169	1	0	4.79706e-38	0.00361	6.14024e-38	61	169		
MAPKBP1	23005	broad.mit.edu	37	15	42092078	42092078	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42092078G>A	ENST00000456763.2	+	3	368	c.172G>A	c.(172-174)Gac>Aac	p.D58N	MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D58N|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D58N|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D58N	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	58										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACTTGCCTGTGACCCCCGATC	0.502																																						uc001zok.3		NaN																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(172-174)GAC>AAC		mitogen-activated protein kinase binding protein							171.0	147.0	155.0					15																	42092078		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42092078G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.172G>A	15.37:g.42092078G>A	ENSP00000393099:p.Asp58Asn					MAPKBP1_uc001zoj.3_Missense_Mutation_p.D58N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D58N|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR	p.D58N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	3	458	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	58					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.172G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	18.65	3.669123	0.67814	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.57436	5.03;0.4;5.03;5.03;2.36	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049807	0.85682	D	0.000000	T	0.57873	0.2083	L	0.36672	1.1	0.80722	D	1	D;B;B	0.57571	0.98;0.131;0.066	P;B;B	0.56088	0.791;0.178;0.065	T	0.58696	-0.7591	10	0.56958	D	0.05	-23.1671	15.8579	0.78994	0.0:0.0:1.0:0.0	.	58;58;58	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	N	58	ENSP00000397570:D58N;ENSP00000221214:D58N;ENSP00000393099:D58N;ENSP00000426154:D58N;ENSP00000422132:D58N	ENSP00000221214:D58N	D	+	1	0	MAPKBP1	39879370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.938000	0.87678	2.793000	0.96121	0.655000	0.94253	GAC		0.502	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		NM_014994		57	162	0	0	0	0.00361	0	57	162		
GANC	2595	broad.mit.edu	37	15	42584941	42584941	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:42584941C>T	ENST00000318010.8	+	5	578	c.338C>T	c.(337-339)tCa>tTa	p.S113L	GANC_ENST00000566442.1_Missense_Mutation_p.S113L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	113					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGGCTGATTTCATGCTCTGGG	0.413																																						uc001zpi.2		NaN																	0				central_nervous_system(2)	2						c.(337-339)TCA>TTA		glucosidase, alpha; neutral C							146.0	126.0	133.0					15																	42584941		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42584941C>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.338C>T	15.37:g.42584941C>T	ENSP00000326227:p.Ser113Leu					GANC_uc001zph.2_Missense_Mutation_p.S113L|GANC_uc001zpj.1_5'UTR	p.S113L	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	5	652	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	113					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.338C>T	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	0.490	-0.875674	0.02550	.	.	ENSG00000214013	ENST00000318010	T	0.17213	2.29	4.81	4.81	0.61882	Glycoside hydrolase-type carbohydrate-binding (1);	1.365760	0.04771	N	0.428086	T	0.13030	0.0316	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21518	-1.0243	10	0.22706	T	0.39	-3.4155	5.4144	0.16365	0.0:0.6702:0.1979:0.1319	.	113;113	Q8TET4;Q2M2A3	GANC_HUMAN;.	L	113	ENSP00000326227:S113L	ENSP00000326227:S113L	S	+	2	0	GANC	40372233	0.006000	0.16342	0.941000	0.38009	0.133000	0.20885	1.878000	0.39608	2.488000	0.83962	0.585000	0.79938	TCA		0.413	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2		NM_198141		29	70	0	0	0	0.005443	0	29	70		
UBR1	197131	broad.mit.edu	37	15	43281096	43281096	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:43281096C>G	ENST00000290650.4	-	35	3996	c.3918G>C	c.(3916-3918)ttG>ttC	p.L1306F	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1306					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTGGCACTTTCAATCCAATTC	0.373																																						uc001zqq.2		NaN																	0				lung(1)	1						c.(3916-3918)TTG>TTC		ubiquitin protein ligase E3 component n-recognin							94.0	93.0	93.0					15																	43281096		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43281096C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3918G>C	15.37:g.43281096C>G	ENSP00000290650:p.Leu1306Phe						p.L1306F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	35	3984	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1306					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.3918G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429041	0.62844	.	.	ENSG00000159459	ENST00000290650	T	0.47528	0.84	4.98	-0.386	0.12466	.	0.082831	0.49916	N	0.000127	T	0.56292	0.1975	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53613	-0.8414	10	0.33141	T	0.24	-35.883	1.3351	0.02143	0.1291:0.2254:0.2536:0.3919	.	1306	Q8IWV7	UBR1_HUMAN	F	1306	ENSP00000290650:L1306F	ENSP00000290650:L1306F	L	-	3	2	UBR1	41068388	0.998000	0.40836	0.988000	0.46212	0.985000	0.73830	0.507000	0.22675	-0.223000	0.09943	0.591000	0.81541	TTG		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		38	105	0	0	0	0.003755	0	38	105		
SQRDL	58472	broad.mit.edu	37	15	45965961	45965961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:45965961C>T	ENST00000260324.7	+	5	1002	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP11-96O20.4_ENST00000564080.1_Nonsense_Mutation_p.Q206*|SQRDL_ENST00000568606.1_Nonsense_Mutation_p.Q206*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	206					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGGAGCCCCTCAGAAGATCAT	0.478																																						uc001zvt.2		NaN																	0				ovary(1)	1						c.(616-618)CAG>TAG		sulfide dehydrogenase like precursor							108.0	92.0	98.0					15																	45965961		2198	4297	6495	SO:0001587	stop_gained	58472						oxidoreductase activity	g.chr15:45965961C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.616C>T	15.37:g.45965961C>T	ENSP00000260324:p.Gln206*					SQRDL_uc001zvu.2_Nonsense_Mutation_p.Q206*|SQRDL_uc001zvv.2_Nonsense_Mutation_p.Q206*	p.Q206*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	805	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	206					Q9UQM8	Nonsense_Mutation	SNP	ENST00000260324.7	37	c.616C>T	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	40	7.924696	0.98563	.	.	ENSG00000137767	ENST00000260324	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2457	0.89985	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000260324:Q206X	Q	+	1	0	SQRDL	43753253	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.731000	0.84895	2.656000	0.90262	0.563000	0.77884	CAG		0.478	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2				15	64	0	0	0	0.003163	0	15	64		
DMXL2	23312	broad.mit.edu	37	15	51772908	51772908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772908C>G	ENST00000251076.5	-	24	6682	c.6395G>C	c.(6394-6396)aGa>aCa	p.R2132T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2132T|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1496T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2132						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCAATCTTCTTCTTTCTAT	0.423																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(6394-6396)AGA>ACA		Dmx-like 2							135.0	127.0	130.0					15																	51772908		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772908C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6395G>C	15.37:g.51772908C>G	ENSP00000251076:p.Arg2132Thr					DMXL2_uc002abd.2_Missense_Mutation_p.R202T|DMXL2_uc010ufy.1_Missense_Mutation_p.R2132T|DMXL2_uc010bfa.2_Missense_Mutation_p.R1496T	p.R2132T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6620	-			2132			Potential.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6395G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667584	0.47677	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77229	-1.08;-1.08;-1.08	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	L	0.38531	1.155	0.58432	D	0.999998	D;D;D;B	0.64830	0.98;0.99;0.994;0.012	P;D;D;B	0.74348	0.81;0.957;0.983;0.017	T	0.76168	-0.3058	10	0.13853	T	0.58	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	2132;1496;2132;2132	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2132;2132;1496	ENSP00000251076:R2132T;ENSP00000441858:R2132T;ENSP00000400855:R1496T	ENSP00000251076:R2132T	R	-	2	0	DMXL2	49560200	1.000000	0.71417	0.709000	0.30452	0.984000	0.73092	5.845000	0.69437	2.729000	0.93468	0.655000	0.94253	AGA		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		33	136	0	0	0	0.002836	0	33	136		
DMXL2	23312	broad.mit.edu	37	15	51772963	51772963	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772963C>T	ENST00000251076.5	-	24	6627	c.6340G>A	c.(6340-6342)Gaa>Aaa	p.E2114K	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2114K|DMXL2_ENST00000449909.3_Missense_Mutation_p.E1478K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2114						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTACCATTTCTTCCTGATCC	0.398																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(6340-6342)GAA>AAA		Dmx-like 2							122.0	117.0	119.0					15																	51772963		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772963C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6340G>A	15.37:g.51772963C>T	ENSP00000251076:p.Glu2114Lys					DMXL2_uc002abd.2_Missense_Mutation_p.E184K|DMXL2_uc010ufy.1_Missense_Mutation_p.E2114K|DMXL2_uc010bfa.2_Missense_Mutation_p.E1478K	p.E2114K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6565	-			2114					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6340G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038197	0.35989	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.76839	-1.05;-1.05;-1.05	5.77	5.77	0.91146	.	0.275088	0.42821	D	0.000660	T	0.70859	0.3272	L	0.48642	1.525	0.33281	D	0.562265	B;P;B;B	0.43788	0.204;0.817;0.265;0.012	B;B;B;B	0.38500	0.124;0.275;0.079;0.015	T	0.76969	-0.2762	10	0.26408	T	0.33	.	15.175	0.72903	0.0:0.9307:0.0:0.0693	.	2114;1478;2114;2114	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	2114;2114;1478	ENSP00000251076:E2114K;ENSP00000441858:E2114K;ENSP00000400855:E1478K	ENSP00000251076:E2114K	E	-	1	0	DMXL2	49560255	0.998000	0.40836	0.993000	0.49108	0.628000	0.37860	3.569000	0.53827	2.729000	0.93468	0.655000	0.94253	GAA		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		25	130	0	0	0	0.004656	0	25	130		
DMXL2	23312	broad.mit.edu	37	15	51772972	51772972	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51772972C>G	ENST00000251076.5	-	24	6618	c.6331G>C	c.(6331-6333)Gat>Cat	p.D2111H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2111H|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1475H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2111						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTTCCTGATCCAGCAGATCA	0.393																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(6331-6333)GAT>CAT		Dmx-like 2							119.0	114.0	116.0					15																	51772972		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772972C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6331G>C	15.37:g.51772972C>G	ENSP00000251076:p.Asp2111His					DMXL2_uc002abd.2_Missense_Mutation_p.D181H|DMXL2_uc010ufy.1_Missense_Mutation_p.D2111H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1475H	p.D2111H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6556	-			2111					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6331G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499195	0.26861	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.78816	-1.21;-1.21;-1.21	5.77	2.91	0.33838	.	0.334765	0.38837	N	0.001541	T	0.71736	0.3375	N	0.22421	0.69	0.46927	D	0.999256	B;D;P;B	0.60160	0.432;0.987;0.498;0.025	B;P;B;B	0.53809	0.368;0.735;0.259;0.022	T	0.68887	-0.5290	10	0.45353	T	0.12	.	9.4269	0.38586	0.0:0.7519:0.1187:0.1294	.	2111;1475;2111;2111	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	H	2111;2111;1475	ENSP00000251076:D2111H;ENSP00000441858:D2111H;ENSP00000400855:D1475H	ENSP00000251076:D2111H	D	-	1	0	DMXL2	49560264	0.998000	0.40836	0.730000	0.30809	0.218000	0.24690	3.582000	0.53921	0.382000	0.24878	-0.123000	0.14984	GAT		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		22	125	0	0	0	0.00333	0	22	125		
DMXL2	23312	broad.mit.edu	37	15	51773374	51773374	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:51773374C>G	ENST00000251076.5	-	24	6216	c.5929G>C	c.(5929-5931)Gat>Cat	p.D1977H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1977H|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1341H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1977						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCACCCCAATCAAGATTAAGA	0.408																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(5929-5931)GAT>CAT		Dmx-like 2							200.0	199.0	199.0					15																	51773374		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773374C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5929G>C	15.37:g.51773374C>G	ENSP00000251076:p.Asp1977His					DMXL2_uc002abd.2_Missense_Mutation_p.D47H|DMXL2_uc010ufy.1_Missense_Mutation_p.D1977H|DMXL2_uc010bfa.2_Missense_Mutation_p.D1341H	p.D1977H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6154	-			1977					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.5929G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203052	0.79127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26067	1.89;1.89;1.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	M	0.75264	2.295	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.901	D;D;D;B	0.87578	0.992;0.997;0.998;0.362	T	0.51434	-0.8706	10	0.48119	T	0.1	.	19.7199	0.96137	0.0:1.0:0.0:0.0	.	1977;1341;1977;1977	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	H	1977;1977;1341	ENSP00000251076:D1977H;ENSP00000441858:D1977H;ENSP00000400855:D1341H	ENSP00000251076:D1977H	D	-	1	0	DMXL2	49560666	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.657000	0.67996	2.665000	0.90641	0.650000	0.86243	GAT		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		72	193	0	0	0	0.00361	0	72	193		
ONECUT1	3175	broad.mit.edu	37	15	53081206	53081206	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:53081206G>C	ENST00000305901.5	-	1	1003	c.876C>G	c.(874-876)atC>atG	p.I292M	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	292					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTTGGTATTGATCTCTTCCA	0.627																																						uc002aci.1		NaN																	0					0						c.(874-876)ATC>ATG		one cut homeobox 1							171.0	154.0	160.0					15																	53081206		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081206G>C	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.876C>G	15.37:g.53081206G>C	ENSP00000302630:p.Ile292Met						p.I292M	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1004	-			292			CUT.		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.876C>G	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115783	0.56505	.	.	ENSG00000169856	ENST00000305901	T	0.56611	0.45	4.73	4.73	0.59995	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.065410	0.64402	D	0.000007	T	0.65037	0.2653	M	0.67517	2.055	0.80722	D	1	B	0.28419	0.211	P	0.45138	0.471	T	0.68131	-0.5490	10	0.62326	D	0.03	-20.2381	16.4501	0.83977	0.0:0.0:1.0:0.0	.	292	Q9UBC0	HNF6_HUMAN	M	292	ENSP00000302630:I292M	ENSP00000302630:I292M	I	-	3	3	ONECUT1	50868498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.142000	0.58044	2.437000	0.82529	0.609000	0.83330	ATC		0.627	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2				36	101	0	0	0	0.003755	0	36	101		
ALDH1A2	8854	broad.mit.edu	37	15	58285149	58285149	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:58285149G>A	ENST00000249750.4	-	6	1445	c.678C>T	c.(676-678)atC>atT	p.I226I	ALDH1A2_ENST00000558231.1_Silent_p.I197I|ALDH1A2_ENST00000537372.1_Silent_p.I205I|ALDH1A2_ENST00000347587.3_Silent_p.I226I|ALDH1A2_ENST00000559517.1_Silent_p.I130I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	226					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TTACCTCCTTGATGAGGGCTC	0.473																																						uc002aex.2		NaN																	0				central_nervous_system(1)	1						c.(676-678)ATC>ATT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						144.0	143.0	144.0					15																	58285149		2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58285149G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.678C>T	15.37:g.58285149G>A						ALDH1A2_uc002aey.2_Silent_p.I226I|ALDH1A2_uc010ugv.1_Silent_p.I205I|ALDH1A2_uc010ugw.1_Silent_p.I197I|ALDH1A2_uc002aew.2_Silent_p.I130I	p.I226I	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	6	736	-			226					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.678C>T	CCDS10163.1																																																																																				0.473	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1				48	125	0	0	0	0.00361	0	48	125		
VPS13C	54832	broad.mit.edu	37	15	62283250	62283250	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:62283250G>T	ENST00000261517.5	-	18	1600	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F466L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F466L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F509L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAATGGCAGTGAAGAGTTTAT	0.299																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(1525-1527)TTC>TTA		vacuolar protein sorting 13C protein isoform 2A							111.0	113.0	113.0					15																	62283250		2203	4298	6501	SO:0001583	missense	54832				protein localization			g.chr15:62283250G>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1527C>A	15.37:g.62283250G>T	ENSP00000261517:p.Phe509Leu					VPS13C_uc002aha.2_Missense_Mutation_p.F466L|VPS13C_uc002ahb.1_Missense_Mutation_p.F509L|VPS13C_uc002ahc.1_Missense_Mutation_p.F466L	p.F509L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			18	1601	-			509						Missense_Mutation	SNP	ENST00000261517.5	37	c.1527C>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292195	0.59976	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43688	0.95;0.94;1.11	5.73	3.86	0.44501	.	0.061350	0.64402	D	0.000002	T	0.49201	0.1543	M	0.77103	2.36	0.43714	D	0.996187	P;P;B;P	0.50943	0.94;0.846;0.365;0.568	P;P;B;B	0.47786	0.557;0.557;0.126;0.265	T	0.52472	-0.8571	10	0.72032	D	0.01	.	8.9395	0.35720	0.3002:0.0:0.6998:0.0	.	466;509;466;509	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	466;509;509;509	ENSP00000249837:F466L;ENSP00000261517:F509L;ENSP00000379233:F509L	ENSP00000249837:F466L	F	-	3	2	VPS13C	60070542	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.061000	0.30542	0.776000	0.33473	0.555000	0.69702	TTC		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		21	97	1	0	2.32416e-17	0.002299	2.93836e-17	21	97		
ANKDD1A	348094	broad.mit.edu	37	15	65239700	65239700	+	Missense_Mutation	SNP	C	C	T	rs145708523	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:65239700C>T	ENST00000380230.3	+	13	1267	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S381F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S290F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S413F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	413	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGCTCCGTTCTGTGCTGTGG	0.592																																						uc002aoa.2		NaN																	0				ovary(1)	1						c.(1237-1239)TCT>TTT		ankyrin repeat and death domain containing 1A							47.0	42.0	44.0					15																	65239700		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65239700C>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1238C>T	15.37:g.65239700C>T	ENSP00000369579:p.Ser413Phe					ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.S290F	p.S413F	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			13	1267	+			413			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1238C>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316285	0.60524	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.42513	1.07;1.0;1.11;0.97	4.63	2.7	0.31948	DEATH-like (1);	0.000000	0.56097	D	0.000029	T	0.57446	0.2054	M	0.74258	2.255	0.51012	D	0.999908	D	0.76494	0.999	D	0.69654	0.965	T	0.54886	-0.8226	10	0.48119	T	0.1	-1.6539	7.6157	0.28156	0.1647:0.7479:0.0:0.0873	.	413	Q495B1	AKD1A_HUMAN	F	413;381;413;290	ENSP00000369579:S413F;ENSP00000350329:S381F;ENSP00000379070:S413F;ENSP00000379073:S290F	ENSP00000350329:S381F	S	+	2	0	ANKDD1A	63026753	0.988000	0.35896	0.006000	0.13384	0.826000	0.46750	2.920000	0.48844	0.548000	0.28955	0.655000	0.94253	TCT		0.592	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2		NM_182703		9	20	0	0	0	0.000978	0	9	20		
NOX5	79400	broad.mit.edu	37	15	69325600	69325600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:69325600G>C	ENST00000388866.3	+	5	879	c.838G>C	c.(838-840)Gac>Cac	p.D280H	NOX5_ENST00000530406.2_Missense_Mutation_p.D252H|NOX5_ENST00000260364.5_Missense_Mutation_p.D262H|NOX5_ENST00000455873.3_Missense_Mutation_p.D245H|NOX5_ENST00000448182.3_Missense_Mutation_p.D234H	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	280					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCTCAACTTCGACTGCAGCTT	0.647																																						uc002ars.1		NaN																	0				breast(1)|pancreas(1)	2						c.(838-840)GAC>CAC		NADPH oxidase, EF-hand calcium binding domain 5							28.0	27.0	27.0					15																	69325600		2199	4297	6496	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69325600G>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.838G>C	15.37:g.69325600G>C	ENSP00000373518:p.Asp280His					NOX5_uc002arp.1_Missense_Mutation_p.D262H|NOX5_uc002arq.1_Missense_Mutation_p.D234H|NOX5_uc010bid.1_Missense_Mutation_p.D245H|NOX5_uc002arr.1_Missense_Mutation_p.D252H|NOX5_uc010bie.1_Missense_Mutation_p.D80H|NOX5_uc010bif.1_RNA	p.D280H	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			5	858	+			280			Helical; (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.838G>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138332	0.56936	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D;D	0.92446	-2.77;-3.04;-2.77;-2.77	3.09	0.588	0.17445	Flavoprotein transmembrane component (1);	0.058571	0.64402	U	0.000004	D	0.88676	0.6501	M	0.70595	2.14	0.34536	D	0.709775	B;B;B	0.29301	0.203;0.241;0.203	B;B;B	0.31946	0.048;0.138;0.048	D	0.84923	0.0855	10	0.56958	D	0.05	.	4.7037	0.12839	0.6811:0.0:0.3189:0.0	.	245;280;252	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	H	245;262;280;252	ENSP00000416828:D245H;ENSP00000410887:D262H;ENSP00000373518:D280H;ENSP00000432440:D252H	ENSP00000373518:D280H	D	+	1	0	NOX5	67112654	1.000000	0.71417	0.994000	0.49952	0.800000	0.45204	3.667000	0.54547	0.290000	0.22444	0.313000	0.20887	GAC		0.647	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2		NM_024505		10	40	0	0	0	0.000978	0	10	40		
LRRC49	54839	broad.mit.edu	37	15	71256227	71256227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:71256227C>T	ENST00000260382.5	+	9	1137	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRRC49_ENST00000443425.2_Nonsense_Mutation_p.Q249*|LRRC49_ENST00000560369.1_Nonsense_Mutation_p.Q298*|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000544974.2_Nonsense_Mutation_p.Q283*|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	293	LRRCT.					cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CACTGTCCTTCAGAATATGAT	0.463																																						uc002asw.2		NaN																	0				ovary(1)	1						c.(877-879)CAG>TAG		leucine rich repeat containing 49							154.0	137.0	143.0					15																	71256227		2199	4297	6496	SO:0001587	stop_gained	54839					cytoplasm|microtubule		g.chr15:71256227C>T		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.877C>T	15.37:g.71256227C>T	ENSP00000260382:p.Gln293*					LRRC49_uc002asu.2_Nonsense_Mutation_p.Q283*|LRRC49_uc002asx.2_Nonsense_Mutation_p.Q249*|LRRC49_uc010ukf.1_Nonsense_Mutation_p.Q298*|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Nonsense_Mutation_p.Q265*	p.Q293*	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			9	1124	+			293			LRRCT.		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Nonsense_Mutation	SNP	ENST00000260382.5	37	c.877C>T	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931480	0.97116	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	5.35	5.35	0.76521	.	0.308968	0.31697	N	0.007220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-12.5402	12.6343	0.56675	0.0:0.8335:0.1665:0.0	.	.	.	.	X	283;293;249;265	.	ENSP00000260382:Q293X	Q	+	1	0	LRRC49	69043281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.418000	0.66429	2.681000	0.91329	0.563000	0.77884	CAG		0.463	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3		NM_017691		59	140	0	0	0	0.00361	0	59	140		
ISLR2	57611	broad.mit.edu	37	15	74427127	74427127	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:74427127G>C	ENST00000361742.3	+	4	2801	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H	ISLR2_ENST00000565540.1_Missense_Mutation_p.D678H|ISLR2_ENST00000565159.1_Missense_Mutation_p.D678H|ISLR2_ENST00000435464.1_Missense_Mutation_p.D678H|ISLR2_ENST00000453268.2_Missense_Mutation_p.D678H|ISLR2_ENST00000419208.1_Missense_Mutation_p.D678H|ISLR2_ENST00000445793.1_Missense_Mutation_p.D678H|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	678					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGAGGGCCTTGATGAAGACGC	0.667											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002axd.2		NaN																	0					0						c.(2032-2034)GAT>CAT		immunoglobulin superfamily containing							41.0	47.0	45.0					15																	74427127		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74427127G>C		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.2032G>C	15.37:g.74427127G>C	ENSP00000355402:p.Asp678His		OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_uc002axe.2_Missense_Mutation_p.D678H|ISLR2_uc010bjg.2_Missense_Mutation_p.D678H|ISLR2_uc010bjf.2_Missense_Mutation_p.D678H	p.D678H	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2801	+			678			Cytoplasmic (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.2032G>C	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337680	0.81911	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.69	4.69	0.59074	.	0.738459	0.11127	U	0.596817	T	0.54224	0.1845	N	0.19112	0.55	0.51233	D	0.999919	D	0.60160	0.987	P	0.54460	0.753	T	0.58132	-0.7690	10	0.66056	D	0.02	.	16.3411	0.83082	0.0:0.0:1.0:0.0	.	678	Q6UXK2	ISLR2_HUMAN	H	678;678;678;678;267;678	ENSP00000403244:D678H;ENSP00000355402:D678H;ENSP00000411443:D678H;ENSP00000411834:D678H;ENSP00000408872:D678H	ENSP00000355402:D678H	D	+	1	0	ISLR2	72214180	1.000000	0.71417	0.173000	0.22940	0.098000	0.18820	3.785000	0.55424	2.138000	0.66242	0.313000	0.20887	GAT		0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1		NM_020851		23	52	0	0	0	0.002299	0	23	52		
CYP1A1	1543	broad.mit.edu	37	15	75014950	75014950	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75014950C>T	ENST00000379727.3	-	2	687	c.489G>A	c.(487-489)gtG>gtA	p.V163V	CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.V163V|CYP1A1_ENST00000395049.4_Silent_p.V163V|CYP1A1_ENST00000395048.2_Silent_p.V163V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	163					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCTCCTTGCTCACATGCTCTT	0.582									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(487-489)GTG>GTA		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						78.0	76.0	77.0					15																	75014950		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014950C>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.489G>A	15.37:g.75014950C>T						CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.V163V|CYP1A1_uc010bjy.2_Silent_p.V163V|CYP1A1_uc010bjz.1_Intron	p.V163V	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	611	-			163					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.489G>A	CCDS10268.1																																																																																				0.582	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1		NM_000499		34	110	0	0	0	0.002836	0	34	110		
CSPG4	1464	broad.mit.edu	37	15	75977247	75977247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:75977247C>T	ENST00000308508.5	-	5	4371	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1427	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATCAGCTGCTCTTCCACCTAG	0.597																																						uc002baw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(4279-4281)GAG>AAG		chondroitin sulfate proteoglycan 4 precursor							65.0	60.0	62.0					15																	75977247		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75977247C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4279G>A	15.37:g.75977247C>T	ENSP00000312506:p.Glu1427Lys						p.E1427K	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			5	4372	-			1427			CSPG 9.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4279G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	11.32	1.604629	0.28623	.	.	ENSG00000173546	ENST00000308508	T	0.47177	0.85	4.26	2.33	0.28932	.	0.522292	0.17832	N	0.160501	T	0.27900	0.0687	N	0.19112	0.55	0.27973	N	0.936317	B	0.10296	0.003	B	0.09377	0.004	T	0.19386	-1.0307	10	0.17832	T	0.49	.	8.211	0.31483	0.0:0.4291:0.4384:0.1325	.	1427	Q6UVK1	CSPG4_HUMAN	K	1427	ENSP00000312506:E1427K	ENSP00000312506:E1427K	E	-	1	0	CSPG4	73764302	0.073000	0.21202	0.988000	0.46212	0.699000	0.40488	1.879000	0.39618	0.252000	0.21531	0.505000	0.49811	GAG		0.597	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897		18	62	0	0	0	0.008871	0	18	62		
FANCI	55215	broad.mit.edu	37	15	89835963	89835963	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89835963G>C	ENST00000310775.7	+	21	2123	c.2037G>C	c.(2035-2037)aaG>aaC	p.K679N	FANCI_ENST00000300027.8_Missense_Mutation_p.K679N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	679					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCTGGTATAAGAATACAGTCA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(2035-2037)AAG>AAC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							105.0	101.0	102.0					15																	89835963		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89835963G>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2037G>C	15.37:g.89835963G>C	ENSP00000310842:p.Lys679Asn					FANCI_uc002bnm.1_Missense_Mutation_p.K679N|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.K500N|FANCI_uc002bnq.1_Missense_Mutation_p.K92N	p.K679N	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			21	2127	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		679					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2037G>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633754	0.47049	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.31769	1.48;1.48;1.48	5.83	3.97	0.46021	.	0.168575	0.56097	D	0.000032	T	0.37758	0.1015	L	0.46157	1.445	0.80722	D	1	P;D;D	0.59357	0.835;0.985;0.985	B;P;P	0.55713	0.371;0.782;0.782	T	0.05131	-1.0904	10	0.33940	T	0.23	-18.544	9.8882	0.41274	0.206:0.0:0.794:0.0	.	679;679;679	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	N	679	ENSP00000300027:K679N;ENSP00000310842:K679N;ENSP00000413249:K679N	ENSP00000300027:K679N	K	+	3	2	FANCI	87636967	1.000000	0.71417	0.990000	0.47175	0.860000	0.49131	1.558000	0.36309	0.818000	0.34468	0.655000	0.94253	AAG		0.378	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		29	58	0	0	0	0.00632	0	29	58		
FANCI	55215	broad.mit.edu	37	15	89836185	89836185	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:89836185G>C	ENST00000310775.7	+	22	2268	c.2182G>C	c.(2182-2184)Gat>Cat	p.D728H	FANCI_ENST00000300027.8_Missense_Mutation_p.D728H	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	728					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAAATCAGCAGATTTTTCTCA	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(2182-2184)GAT>CAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							109.0	109.0	109.0					15																	89836185		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89836185G>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2182G>C	15.37:g.89836185G>C	ENSP00000310842:p.Asp728His					FANCI_uc002bnm.1_Missense_Mutation_p.D728H|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.D549H|FANCI_uc002bnq.1_Missense_Mutation_p.D141H	p.D728H	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			22	2272	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		728					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2182G>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503833	0.85176	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.42513	0.97;0.97;0.97	5.9	5.9	0.94986	.	0.045475	0.85682	D	0.000000	T	0.66297	0.2775	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71414	0.973;0.957;0.957	T	0.67059	-0.5766	10	0.87932	D	0	-6.5599	20.2723	0.98479	0.0:0.0:1.0:0.0	.	728;728;728	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	H	728	ENSP00000300027:D728H;ENSP00000310842:D728H;ENSP00000413249:D728H	ENSP00000300027:D728H	D	+	1	0	FANCI	87637189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.230000	0.95299	2.793000	0.96121	0.563000	0.77884	GAT		0.328	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		29	88	0	0	0	0.007291	0	29	88		
TICRR	90381	broad.mit.edu	37	15	90168528	90168528	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90168528G>C	ENST00000268138.7	+	20	5092	c.4987G>C	c.(4987-4989)Gat>Cat	p.D1663H	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.D1662H			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1663					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ATTTCAAACAGATGGGGTTCC	0.592																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4987-4989)GAT>CAT		leucine-rich repeat kinase 1							56.0	61.0	59.0					15																	90168528		2200	4299	6499	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168528G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4987G>C	15.37:g.90168528G>C	ENSP00000268138:p.Asp1663His					C15orf42_uc010upv.1_RNA	p.D1663H	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4987	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1663					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.4987G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272529	0.59649	.	.	ENSG00000140534	ENST00000268138	T	0.13420	2.59	5.51	4.59	0.56863	.	0.236522	0.35772	N	0.002982	T	0.29620	0.0739	M	0.69823	2.125	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	T	0.02728	-1.1118	10	0.30078	T	0.28	-6.0983	11.5897	0.50939	0.1442:0.0:0.8558:0.0	.	1663	Q7Z2Z1	TICRR_HUMAN	H	1663	ENSP00000268138:D1663H	ENSP00000268138:D1663H	D	+	1	0	C15orf42	87969532	1.000000	0.71417	0.228000	0.23943	0.852000	0.48524	6.394000	0.73223	1.447000	0.47661	0.655000	0.94253	GAT		0.592	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		10	92	0	0	0	0.006214	0	10	92		
TTLL13	440307	broad.mit.edu	37	15	90799463	90799463	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90799463C>T	ENST00000339615.5	+	6	929	c.639C>T	c.(637-639)ttC>ttT	p.F213F	TTLL13_ENST00000438251.1_Silent_p.F213F|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GTGGCATCTTCATTACCCGAA	0.537																																						uc002bpd.1		NaN																	0					0						c.(637-639)TTC>TTT		tubulin tyrosine ligase-like family, member 13							104.0	97.0	99.0					15																	90799463		2199	4298	6497	SO:0001819	synonymous_variant	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90799463C>T	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.639C>T	15.37:g.90799463C>T						TTLL13_uc002bpe.1_Intron	p.F213F	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		6	927	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		213			TTL.			Silent	SNP	ENST00000339615.5	37	c.639C>T	CCDS32328.1																																																																																				0.537	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1		NM_001029964		10	126	0	0	0	0.001855	0	10	126		
NGRN	51335	broad.mit.edu	37	15	90808999	90808999	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:90808999C>T	ENST00000379095.3	+	1	63	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	19					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGCCGTCACTCGCTGTGGGTT	0.692																																						uc002bpf.1		NaN																	0				large_intestine(2)|ovary(1)	3						c.(55-57)CGC>TGC		neugrin							15.0	19.0	18.0					15																	90808999		2190	4282	6472	SO:0001583	missense	51335				neuron differentiation	extracellular region|nucleus		g.chr15:90808999C>T	AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.55C>T	15.37:g.90808999C>T	ENSP00000368389:p.Arg19Cys					TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR	p.R19C	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		1	105	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		19					B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	37	c.55C>T	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790332	0.50102	.	.	ENSG00000182768	ENST00000379095	T	0.55052	0.54	4.35	1.21	0.21127	.	1.187370	0.07274	U	0.869565	T	0.38026	0.1025	L	0.27053	0.805	0.38959	D	0.958516	B	0.15473	0.013	B	0.08055	0.003	T	0.37314	-0.9711	10	0.87932	D	0	.	5.2466	0.15500	0.0:0.6111:0.0:0.3889	.	19	Q9NPE2	NGRN_HUMAN	C	19	ENSP00000368389:R19C	ENSP00000368389:R19C	R	+	1	0	NGRN	88610003	0.776000	0.28616	0.962000	0.40283	0.116000	0.19942	1.259000	0.32956	0.498000	0.27948	0.591000	0.81541	CGC		0.692	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1				12	36	0	0	0	0.00245	0	12	36		
MAN2A2	4122	broad.mit.edu	37	15	91456191	91456191	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:91456191C>A	ENST00000559717.1	+	17	3013	c.2554C>A	c.(2554-2556)Cac>Aac	p.H852N	MAN2A2_ENST00000431652.2_Missense_Mutation_p.H360N|MAN2A2_ENST00000430376.2_Missense_Mutation_p.H42N|MAN2A2_ENST00000360468.3_Missense_Mutation_p.H852N			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	852					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGAGCACATTCACCAGGCGGT	0.567																																						uc010bnz.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(2554-2556)CAC>AAC		mannosidase, alpha, class 2A, member 2							113.0	102.0	106.0					15																	91456191		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91456191C>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2554C>A	15.37:g.91456191C>A	ENSP00000452948:p.His852Asn					MAN2A2_uc002bqc.2_Missense_Mutation_p.H852N|MAN2A2_uc010uql.1_Missense_Mutation_p.H514N|MAN2A2_uc010uqm.1_Missense_Mutation_p.H431N|MAN2A2_uc010uqn.1_RNA	p.H852N	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		17	2669	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		852					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2554C>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406447	0.25378	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;T;T	0.77620	-1.11;-1.11;-1.11	5.02	5.02	0.67125	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.328507	0.38837	N	0.001542	T	0.69691	0.3139	L	0.36672	1.1	0.41260	D	0.986776	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.64007	-0.6508	10	0.17369	T	0.5	-28.7764	18.5937	0.91223	0.0:1.0:0.0:0.0	.	360;480;852	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	N	852;360;42	ENSP00000353655:H852N;ENSP00000388221:H360N;ENSP00000394372:H42N	ENSP00000353655:H852N	H	+	1	0	MAN2A2	89257195	1.000000	0.71417	0.795000	0.32087	0.273000	0.26683	5.773000	0.68898	2.635000	0.89317	0.549000	0.68633	CAC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5		NM_006122		23	65	1	0	1.10923e-09	0.00278	1.36521e-09	23	65		
LRRK1	79705	broad.mit.edu	37	15	101588736	101588736	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101588736G>A	ENST00000388948.3	+	22	3532	c.3173G>A	c.(3172-3174)aGg>aAg	p.R1058K	RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.R1055K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAGGAACAGGAAAGTCACC	0.448																																						uc002bwr.2		NaN																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(3172-3174)AGG>AAG		leucine-rich repeat kinase 1							113.0	111.0	112.0					15																	101588736		1869	4104	5973	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101588736G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3173G>A	15.37:g.101588736G>A	ENSP00000373600:p.Arg1058Lys					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron	p.R1058K	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		22	3492	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1058						Missense_Mutation	SNP	ENST00000388948.3	37	c.3173G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013393	0.35511	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72835	-0.68;-0.69	5.21	5.21	0.72293	.	0.107964	0.56097	D	0.000030	T	0.45657	0.1353	N	0.08118	0	0.27789	N	0.942899	B	0.12013	0.005	B	0.11329	0.006	T	0.26224	-1.0109	10	0.08837	T	0.75	.	10.0139	0.42003	0.1244:0.0:0.8756:0.0	.	1058	Q38SD2	LRRK1_HUMAN	K	1058;1055	ENSP00000373600:R1058K;ENSP00000284395:R1055K	ENSP00000284395:R1055K	R	+	2	0	LRRK1	99406259	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.053000	0.49901	2.430000	0.82344	0.650000	0.86243	AGG		0.448	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652		26	108	0	0	0	0.004656	0	26	108		
LRRK1	79705	broad.mit.edu	37	15	101601442	101601442	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101601442G>A	ENST00000388948.3	+	30	5105	c.4746G>A	c.(4744-4746)atG>atA	p.M1582I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.M1579I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCTGGGATGAAGGTGAGCT	0.612																																						uc002bwr.2		NaN																	0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(4744-4746)ATG>ATA		leucine-rich repeat kinase 1							74.0	87.0	82.0					15																	101601442		2104	4235	6339	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101601442G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4746G>A	15.37:g.101601442G>A	ENSP00000373600:p.Met1582Ile					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.M1582I	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		30	5065	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1582						Missense_Mutation	SNP	ENST00000388948.3	37	c.4746G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762216	0.31228	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.69806	-0.43;-0.43	5.46	5.46	0.80206	.	0.208419	0.53938	D	0.000053	T	0.67297	0.2878	M	0.62723	1.935	0.36148	D	0.847283	B	0.15141	0.012	B	0.11329	0.006	T	0.68633	-0.5357	10	0.49607	T	0.09	.	19.3004	0.94141	0.0:0.0:1.0:0.0	.	1582	Q38SD2	LRRK1_HUMAN	I	1582;1579;273;136	ENSP00000373600:M1582I;ENSP00000284395:M1579I	ENSP00000284395:M1579I	M	+	3	0	LRRK1	99418965	1.000000	0.71417	0.995000	0.50966	0.457000	0.32468	3.423000	0.52756	2.576000	0.86940	0.555000	0.69702	ATG		0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652		13	41	0	0	0	0.00245	0	13	41		
CHSY1	22856	broad.mit.edu	37	15	101718818	101718818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:101718818C>T	ENST00000254190.3	-	3	1659	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	395					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCCATTCCTCTTCGAGGGGG	0.542																																						uc002bwt.1		NaN																	0					0						c.(1183-1185)AGA>AAA		chondroitin sulfate synthase 1							71.0	72.0	71.0					15																	101718818		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718818C>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1184G>A	15.37:g.101718818C>T	ENSP00000254190:p.Arg395Lys					CHSY1_uc010usd.1_Missense_Mutation_p.R123K	p.R395K	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1667	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		395			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1184G>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344107	0.41498	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16196	2.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	L	0.54323	1.7	0.58432	D	0.999991	B	0.25105	0.118	B	0.29353	0.101	T	0.08554	-1.0716	10	0.02654	T	1	-27.171	19.3227	0.94248	0.0:1.0:0.0:0.0	.	395	Q86X52	CHSS1_HUMAN	K	395;123	ENSP00000254190:R395K	ENSP00000254190:R395K	R	-	2	0	CHSY1	99536341	0.949000	0.32298	0.512000	0.27736	0.938000	0.57974	5.898000	0.69838	2.557000	0.86248	0.655000	0.94253	AGA		0.542	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1		NM_014918		35	73	0	0	0	0.004289	0	35	73		
TARSL2	123283	broad.mit.edu	37	15	102255153	102255153	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr15:102255153C>G	ENST00000335968.3	-	4	796	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	194					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCGTGCTTTCAGCCAGTTCC	0.403																																						uc002bxm.2		NaN																	0				ovary(2)	2						c.(580-582)GAA>CAA		threonyl-tRNA synthetase-like 2							78.0	73.0	75.0					15																	102255153		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102255153C>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.580G>C	15.37:g.102255153C>G	ENSP00000338093:p.Glu194Gln					TARSL2_uc010usi.1_RNA	p.E194Q	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	635	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		194					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.580G>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403691	0.62288	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.07444	3.19;3.19	5.9	5.9	0.94986	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.289946	0.34156	N	0.004203	T	0.11196	0.0273	L	0.45228	1.405	0.45515	D	0.998476	B	0.28258	0.205	B	0.29077	0.098	T	0.04946	-1.0916	10	0.46703	T	0.11	-23.9892	17.7728	0.88497	0.0:1.0:0.0:0.0	.	194	A2RTX5	SYTC2_HUMAN	Q	194	ENSP00000338093:E194Q;ENSP00000439899:E194Q	ENSP00000329291:E194Q	E	-	1	0	TARSL2	100072676	1.000000	0.71417	0.918000	0.36340	0.977000	0.68977	4.388000	0.59633	2.788000	0.95919	0.650000	0.86243	GAA		0.403	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3		NM_152334		11	62	0	0	0	0.001368	0	11	62		
JMJD8	339123	broad.mit.edu	37	16	731803	731803	+	3'UTR	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:731803G>C	ENST00000293882.4	-	0	1995				JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000566181.2_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000219548.4_Missense_Mutation_p.E179Q|LA16c-313D11.9_ENST00000571933.1_RNA|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000454700.1_3'UTR|STUB1_ENST00000564370.1_Missense_Mutation_p.E107Q|STUB1_ENST00000565677.1_Missense_Mutation_p.E107Q			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GGAGCTGGAAGAGTGCCAGCG	0.627																																						uc002cit.2		NaN																	0					0						c.(535-537)GAG>CAG		STIP1 homology and U-box containing protein 1							35.0	37.0	36.0					16																	731803		2199	4300	6499	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731803G>C		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*991C>G	16.37:g.731803G>C						STUB1_uc002ciu.2_Missense_Mutation_p.E107Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.E179Q	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			4	946	+		Hepatocellular(780;0.00335)	179					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.535G>C		.	.	.	.	.	.	.	.	.	.	G	9.837	1.190020	0.21954	.	.	ENSG00000103266	ENST00000219548	T	0.15834	2.39	4.15	4.15	0.48705	.	0.178112	0.49305	D	0.000157	T	0.19127	0.0459	M	0.63843	1.955	0.80722	D	1	B	0.19935	0.04	B	0.09377	0.004	T	0.04551	-1.0943	10	0.21014	T	0.42	-14.7283	15.5698	0.76326	0.0:0.0:1.0:0.0	.	179	Q9UNE7	CHIP_HUMAN	Q	179	ENSP00000219548:E179Q	ENSP00000219548:E179Q	E	+	1	0	STUB1	671804	0.996000	0.38824	0.997000	0.53966	0.753000	0.42808	4.147000	0.58078	2.304000	0.77564	0.549000	0.68633	GAG		0.627	JMJD8-201	KNOWN	basic	protein_coding	protein_coding			NM_001005920		21	55	0	0	0	0.001882	0	21	55		
HN1L	90861	broad.mit.edu	37	16	1741917	1741917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1741917G>A	ENST00000248098.3	+	3	324	c.267G>A	c.(265-267)ggG>ggA	p.G89G	HN1L_ENST00000382711.5_Silent_p.G73G|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382710.4_Silent_p.G77G|HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.G117G	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	89						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CACCTGGAGGGAAGACCAGCG	0.542																																						uc002cmg.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(265-267)GGG>GGA		hematological and neurological expressed 1-like							131.0	106.0	115.0					16																	1741917		2199	4300	6499	SO:0001819	synonymous_variant	90861					cytoplasm|nucleus		g.chr16:1741917G>A	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.267G>A	16.37:g.1741917G>A						HN1L_uc010uvi.1_Silent_p.G117G|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Intron|HN1L_uc010uvj.1_Intron|HN1L_uc010uvk.1_Silent_p.G76G	p.G89G	NM_144570	NP_653171	Q9H910	HN1L_HUMAN			3	303	+			89					B1AJY2|Q6EIC7	Silent	SNP	ENST00000248098.3	37	c.267G>A	CCDS10441.1																																																																																				0.542	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2		NM_144570		16	74	0	0	0	0.007413	0	16	74		
MAPK8IP3	23162	broad.mit.edu	37	16	1810466	1810466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:1810466G>C	ENST00000250894.4	+	12	1544	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E457Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	463					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGGCGAGTTGGAGGCTGCTAA	0.537																																						uc002cmk.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1387-1389)GAG>CAG		mitogen-activated protein kinase 8 interacting							98.0	109.0	106.0					16																	1810466		2098	4212	6310	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1810466G>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1387G>C	16.37:g.1810466G>C	ENSP00000250894:p.Glu463Gln					MAPK8IP3_uc002cml.2_Missense_Mutation_p.E457Q|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E464Q	p.E463Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			12	1507	+			463			Potential.		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1387G>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461784	0.84425	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.88354	-2.37;-2.37	5.6	4.65	0.58169	.	0.050554	0.85682	D	0.000000	D	0.92459	0.7606	L	0.59436	1.845	0.80722	D	1	B;B;D	0.65815	0.431;0.409;0.995	B;B;D	0.77004	0.358;0.131;0.989	D	0.91506	0.5223	10	0.37606	T	0.19	-22.6404	13.7215	0.62730	0.0744:0.0:0.9256:0.0	.	464;457;463	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Q	463;457	ENSP00000250894:E463Q;ENSP00000348290:E457Q	ENSP00000250894:E463Q	E	+	1	0	MAPK8IP3	1750467	1.000000	0.71417	0.995000	0.50966	0.581000	0.36288	7.778000	0.85637	1.369000	0.46134	0.655000	0.94253	GAG		0.537	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439		37	89	0	0	0	0.005524	0	37	89		
PDPK1	5170	broad.mit.edu	37	16	2647748	2647748	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:2647748C>G	ENST00000342085.4	+	14	1800	c.1651C>G	c.(1651-1653)Ccg>Gcg	p.P551A	PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000354836.5_Missense_Mutation_p.P527A|CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000268673.7_Missense_Mutation_p.P424A|PDPK1_ENST00000389224.3_Missense_Mutation_p.P524A	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	551					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGCCACCCGGACGCCGC	0.662																																						uc002cqs.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1651-1653)CCG>GCG		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						73.0	60.0	64.0					16																	2647748		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2647748C>G	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1651C>G	16.37:g.2647748C>G	ENSP00000344220:p.Pro551Ala					PDPK1_uc002cqt.2_Missense_Mutation_p.P424A|PDPK1_uc010bsn.2_3'UTR|PDPK1_uc002cqu.2_Missense_Mutation_p.P524A	p.P551A	NM_002613	NP_002604	O15530	PDPK1_HUMAN			14	1795	+		Ovarian(90;0.17)	551					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1651C>G	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	-	13.21	2.169516	0.38315	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.24	5.24	0.73138	Pleckstrin homology-type (1);	0.146153	0.46442	U	0.000293	T	0.11024	0.0269	N	0.02539	-0.55	0.42070	D	0.991208	B;B	0.17268	0.021;0.018	B;B	0.16722	0.003;0.016	T	0.17289	-1.0374	10	0.42905	T	0.14	-12.0438	17.3809	0.87404	0.0:1.0:0.0:0.0	.	424;551	O15530-4;O15530	.;PDPK1_HUMAN	A	551;424;527;524	ENSP00000344220:P551A;ENSP00000268673:P424A;ENSP00000346895:P527A;ENSP00000373876:P524A	ENSP00000268673:P424A	P	+	1	0	PDPK1	2587749	1.000000	0.71417	0.921000	0.36526	0.472000	0.32918	5.968000	0.70413	2.422000	0.82143	0.563000	0.77884	CCG		0.662	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3				14	35	0	0	0	0.00245	0	14	35		
THOC6	79228	broad.mit.edu	37	16	3077242	3077242	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3077242C>T	ENST00000326266.8	+	11	1067	c.771C>T	c.(769-771)atC>atT	p.I257I	HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Silent_p.I233I|HCFC1R1_ENST00000248089.3_5'Flank|THOC6_ENST00000253952.9_Silent_p.I257I|THOC6_ENST00000574549.1_Silent_p.I233I|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	257					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TCTTCCCCATCCGGGCGCCAC	0.637																																						uc002ctb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(769-771)ATC>ATT		WD repeat domain 58 isoform 1							90.0	89.0	89.0					16																	3077242		2198	4300	6498	SO:0001819	synonymous_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3077242C>T	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.771C>T	16.37:g.3077242C>T						HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.I257I|THOC6_uc002ctc.2_Silent_p.I233I|THOC6_uc002cta.2_Silent_p.I233I	p.I257I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN			11	1067	+			257			WD 6.		B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	ENST00000326266.8	37	c.771C>T	CCDS10491.1																																																																																				0.637	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1		NM_024339		38	87	0	0	0	0.004289	0	38	87		
CREBBP	1387	broad.mit.edu	37	16	3777746	3777746	+	Silent	SNP	C	C	T	rs144609433	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:3777746C>T	ENST00000262367.5	-	31	8111	c.7302G>A	c.(7300-7302)acG>acA	p.T2434T	CREBBP_ENST00000382070.3_Silent_p.T2396T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2434					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTCTCTAGCGTGTCCCCCG	0.552			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						C|||	2	0.000399361	0.0015	0.0	5008	,	,		13348	0.0		0.0	False		,,,				2504	0.0					uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(7300-7302)ACG>ACA		CREB binding protein isoform a		C	,	6,4388	11.4+/-27.6	0,6,2191	100.0	103.0	102.0		7188,7302	-3.6	0.9	16	dbSNP_134	102	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	CREBBP	NM_001079846.1,NM_004380.2	,	0,8,6489	TT,TC,CC		0.0233,0.1365,0.0616	,	2396/2405,2434/2443	3777746	8,12986	2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3777746C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7302G>A	16.37:g.3777746C>T						CREBBP_uc002cvw.2_Silent_p.T2396T	p.T2434T	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7506	-		Ovarian(90;0.0266)	2434					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.7302G>A	CCDS10509.1																																																																																				0.552	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		66	131	0	0	0	0.00361	0	66	131		
GSPT1	2935	broad.mit.edu	37	16	11980398	11980398	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:11980398G>A	ENST00000563468.1	-	7	795	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	GSPT1_ENST00000434724.2_Missense_Mutation_p.H395Y|GSPT1_ENST00000564790.1_5'UTR|GSPT1_ENST00000439887.2_Missense_Mutation_p.H394Y|GSPT1_ENST00000420576.2_Missense_Mutation_p.H257Y|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	257	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGCATAAAGTGAATGTCCTTT	0.348																																						uc002dbr.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(769-771)CAC>TAC		G1 to S phase transition 1 isoform 3							88.0	87.0	87.0					16																	11980398		1959	4166	6125	SO:0001583	missense	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11980398G>A	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.769C>T	16.37:g.11980398G>A	ENSP00000454351:p.His257Tyr					GSPT1_uc002dbu.2_Missense_Mutation_p.H394Y|GSPT1_uc002dbt.2_Missense_Mutation_p.H395Y|GSPT1_uc010bux.2_Missense_Mutation_p.H257Y	p.H257Y	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN			7	796	-			257					J3KQG6|Q96GF2	Missense_Mutation	SNP	ENST00000563468.1	37	c.769C>T	CCDS45414.1	.	.	.	.	.	.	.	.	.	.	G	3.769	-0.048083	0.07407	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.70631	-0.5;-0.5;-0.5	5.23	5.23	0.72850	Protein synthesis factor, GTP-binding (1);	0.054449	0.64402	U	0.000001	T	0.49695	0.1572	N	0.11892	0.195	0.50171	D	0.999858	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.004;0.001	T	0.48937	-0.8990	10	0.02654	T	1	-9.5196	15.5475	0.76118	0.0:0.0:1.0:0.0	.	394;391;257	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	Y	395;394;257	ENSP00000398131:H395Y;ENSP00000408399:H394Y;ENSP00000399539:H257Y	ENSP00000399539:H257Y	H	-	1	0	GSPT1	11887899	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.631000	0.61304	2.443000	0.82685	0.561000	0.74099	CAC		0.348	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1		NM_002094		24	64	0	0	0	0.002299	0	24	64		
NOMO1	23420	broad.mit.edu	37	16	14951394	14951394	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:14951394G>C	ENST00000287667.7	+	11	1273	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	368						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATTCCGCCTTGAGAACATAAC	0.428																																						uc002dcv.2		NaN																	0				ovary(1)	1						c.(1102-1104)GAG>CAG		nodal modulator 1 precursor							40.0	37.0	38.0					16																	14951394		2194	4280	6474	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14951394G>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1102G>C	16.37:g.14951394G>C	ENSP00000287667:p.Glu368Gln						p.E368Q	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			11	1168	+			368			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1102G>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.761472	0.49468	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.45276	0.9	3.31	3.31	0.37934	Carboxypeptidase-like, regulatory domain (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.062217	0.64402	D	0.000007	T	0.34774	0.0909	L	0.49256	1.55	0.80722	D	1	B	0.19445	0.036	B	0.17722	0.019	T	0.14755	-1.0461	10	0.19590	T	0.45	-19.9548	12.5207	0.56058	0.0:0.0:1.0:0.0	.	368	Q15155	NOMO1_HUMAN	Q	368;368;201	ENSP00000287667:E368Q	ENSP00000287667:E368Q	E	+	1	0	NOMO1	14858895	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.040000	0.93783	1.832000	0.53329	0.398000	0.26397	GAG		0.428	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1				29	73	0	0	0	0.006999	0	29	73		
KIAA0430	9665	broad.mit.edu	37	16	15718772	15718772	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:15718772G>C	ENST00000396368.3	-	10	2330	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	KIAA0430_ENST00000551742.1_Silent_p.L707L|KIAA0430_ENST00000602337.1_Silent_p.L705L|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Silent_p.L705L|KIAA0430_ENST00000540441.2_Silent_p.L565L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	708					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGGGCACTGAGGTTCTCCT	0.408																																						uc002ddr.2		NaN																	0					0						c.(2122-2124)CTC>CTG		limkain b1							84.0	82.0	83.0					16																	15718772		1860	4095	5955	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15718772G>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2124C>G	16.37:g.15718772G>C						KIAA0430_uc002ddq.2_Silent_p.L564L|KIAA0430_uc010uzv.1_Silent_p.L704L|KIAA0430_uc010uzw.1_Silent_p.L706L	p.L708L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			10	2317	-			707					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.2124C>G	CCDS10562.2																																																																																				0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647		32	66	0	0	0	0.002445	0	32	66		
SMG1	23049	broad.mit.edu	37	16	18856931	18856931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:18856931C>G	ENST00000446231.2	-	39	6451	c.6039G>C	c.(6037-6039)ttG>ttC	p.L2013F	SMG1_ENST00000389467.3_Missense_Mutation_p.L2013F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2013					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGGCTTCATCAAAGCTGTGT	0.388																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6037-6039)TTG>TTC		PI-3-kinase-related kinase SMG-1							130.0	120.0	123.0					16																	18856931		1903	4130	6033	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856931C>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6039G>C	16.37:g.18856931C>G	ENSP00000402515:p.Leu2013Phe					SMG1_uc010bwb.2_Missense_Mutation_p.L1873F|SMG1_uc010bwa.2_Missense_Mutation_p.L744F|SMG1_uc002dfo.3_Missense_Mutation_p.L311F	p.L2013F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6402	-			2013					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6039G>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863125	0.51482	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01246	5.11;5.11	5.98	2.98	0.34508	Armadillo-type fold (1);	0.000000	0.49305	D	0.000143	T	0.03783	0.0107	L	0.39397	1.21	0.33508	D	0.59081	D;D	0.71674	0.997;0.998	D;D	0.78314	0.986;0.991	T	0.38779	-0.9645	10	0.72032	D	0.01	.	5.9608	0.19299	0.1232:0.6233:0.0:0.2535	.	1873;2013	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	F	2013	ENSP00000402515:L2013F;ENSP00000374118:L2013F	ENSP00000374118:L2013F	L	-	3	2	SMG1	18764432	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	1.194000	0.32174	0.423000	0.26033	-0.182000	0.12963	TTG		0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		32	150	0	0	0	0.003755	0	32	150		
KNOP1	400506	broad.mit.edu	37	16	19726086	19726086	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:19726086C>G	ENST00000219837.7	-	2	350	c.272G>C	c.(271-273)aGa>aCa	p.R91T	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	91	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTCTGTCCGTCTAGCAGGCAG	0.507																																						uc002dgq.2		NaN																	0					0						c.(271-273)AGA>ACA		hypothetical protein LOC400506							68.0	68.0	68.0					16																	19726086		2056	4208	6264	SO:0001583	missense	400506					nucleolus		g.chr16:19726086C>G	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.272G>C	16.37:g.19726086C>G	ENSP00000219837:p.Arg91Thr					IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	p.R91T	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			2	287	-			91			Lys-rich.		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.272G>C	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.297047	0.23650	.	.	ENSG00000103550	ENST00000219837	T	0.26223	1.75	4.61	3.64	0.41730	.	1.042410	0.07840	N	0.962889	T	0.28928	0.0718	N	0.25647	0.755	0.20563	N	0.999888	P	0.51351	0.944	P	0.52957	0.714	T	0.16958	-1.0385	9	.	.	.	-1.4732	9.0508	0.36374	0.0:0.8973:0.0:0.1027	.	91	Q1ED39	CP088_HUMAN	T	91	ENSP00000219837:R91T	.	R	-	2	0	C16orf88	19633587	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.665000	0.25083	1.254000	0.44035	0.561000	0.74099	AGA		0.507	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2		NM_001012991		17	92	0	0	0	0.006122	0	17	92		
DNAH3	55567	broad.mit.edu	37	16	21132097	21132097	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:21132097C>G	ENST00000261383.3	-	11	1662	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E555Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	555	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGCTGGGCTCTCCTGGCTCA	0.507																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1663-1665)GAG>CAG		dynein, axonemal, heavy chain 3							90.0	76.0	81.0					16																	21132097		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21132097C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1663G>C	16.37:g.21132097C>G	ENSP00000261383:p.Glu555Gln					DNAH3_uc002die.2_Intron	p.E555Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	11	1663	-			555			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1663G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	6.423	0.446107	0.12164	.	.	ENSG00000158486	ENST00000544558;ENST00000261383;ENST00000415178	T;T	0.22743	1.94;2.11	3.1	0.877	0.19145	.	13.062500	0.00166	N	0.000000	T	0.10423	0.0255	N	0.08118	0	0.09310	N	0.999997	B	0.10296	0.003	B	0.04013	0.001	T	0.20806	-1.0264	10	0.13108	T	0.6	.	4.0147	0.09639	0.0:0.6065:0.2404:0.1531	.	555	Q8TD57	DYH3_HUMAN	Q	106;555;555	ENSP00000261383:E555Q;ENSP00000394245:E555Q	ENSP00000261383:E555Q	E	-	1	0	DNAH3	21039598	0.067000	0.21026	0.105000	0.21289	0.022000	0.10575	-0.109000	0.10840	0.283000	0.22279	0.530000	0.56133	GAG		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		15	38	0	0	0	0.004007	0	15	38		
VWA3A	146177	broad.mit.edu	37	16	22157565	22157565	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:22157565G>C	ENST00000389398.5	+	27	2835	c.2739G>C	c.(2737-2739)gtG>gtC	p.V913V	VWA3A_ENST00000389397.4_5'UTR|VWA3A_ENST00000563755.1_5'Flank	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	913						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGAGTGGTGAGACACATCC	0.532																																						uc010vbq.1		NaN																	0				skin(1)	1						c.(2737-2739)GTG>GTC		von Willebrand factor A domain containing 3A							78.0	80.0	80.0					16																	22157565		2082	4218	6300	SO:0001819	synonymous_variant	146177					extracellular region		g.chr16:22157565G>C	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2739G>C	16.37:g.22157565G>C						VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_5'UTR|VWA3A_uc010bxe.1_5'UTR	p.V913V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	27	2835	+			913					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	c.2739G>C	CCDS45441.1																																																																																				0.532	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1				10	24	0	0	0	0.008291	0	10	24		
USP31	57478	broad.mit.edu	37	16	23096215	23096215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:23096215G>A	ENST00000219689.7	-	11	1795	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	250	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAAACACTGGGATAAAGTGCA	0.488																																						uc002dll.2		NaN																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(1795-1797)TCC>TTC		ubiquitin specific peptidase 31							258.0	247.0	251.0					16																	23096215		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23096215G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1796C>T	16.37:g.23096215G>A	ENSP00000219689:p.Ser599Phe					USP31_uc010bxm.2_5'UTR	p.S599F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	11	1796	-			599					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.1796C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915140	0.92178	.	.	ENSG00000103404	ENST00000219689	T	0.02890	4.12	5.63	5.63	0.86233	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.074050	0.53938	D	0.000050	T	0.08626	0.0214	N	0.25245	0.725	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.39354	-0.9618	10	0.48119	T	0.1	-14.6283	18.6977	0.91607	0.0:0.0:1.0:0.0	.	599	Q70CQ4	UBP31_HUMAN	F	599	ENSP00000219689:S599F	ENSP00000219689:S599F	S	-	2	0	USP31	23003716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.158000	0.71851	2.652000	0.90054	0.655000	0.94253	TCC		0.488	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1		NM_020718		114	280	0	0	0	0.00361	0	114	280		
TNRC6A	27327	broad.mit.edu	37	16	24801938	24801938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24801938C>G	ENST00000395799.3	+	6	2104	c.1975C>G	c.(1975-1977)Caa>Gaa	p.Q659E	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q659E	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	659	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GACAAATGAGCAAAGCAGTGT	0.468																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(1975-1977)CAA>GAA		trinucleotide repeat containing 6A							89.0	79.0	82.0					16																	24801938		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801938C>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1975C>G	16.37:g.24801938C>G	ENSP00000379144:p.Gln659Glu					TNRC6A_uc010bxs.2_Missense_Mutation_p.Q406E|TNRC6A_uc010vcc.1_Missense_Mutation_p.Q406E|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q406E|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q406E	p.Q659E	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2089	+			659			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1975C>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	9.092	1.001855	0.19121	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12569	2.67;2.67	5.54	4.57	0.56435	.	0.221821	0.38605	N	0.001623	T	0.15305	0.0369	L	0.39147	1.195	0.80722	D	1	P;B;P	0.39250	0.532;0.0;0.665	B;B;B	0.43783	0.431;0.001;0.169	T	0.03545	-1.1026	10	0.35671	T	0.21	-4.9393	11.2421	0.48974	0.1434:0.7186:0.138:0.0	.	406;659;659	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	E	659	ENSP00000326900:Q659E;ENSP00000379144:Q659E	ENSP00000326900:Q659E	Q	+	1	0	TNRC6A	24709439	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.321000	0.65846	1.298000	0.44778	0.462000	0.41574	CAA		0.468	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		19	52	0	0	0	0.006122	0	19	52		
TNRC6A	27327	broad.mit.edu	37	16	24802034	24802034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:24802034C>T	ENST00000395799.3	+	6	2200	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q691*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	691	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAAAGTCAGAGTAGAGA	0.473																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(2071-2073)CAG>TAG		trinucleotide repeat containing 6A							89.0	89.0	89.0					16																	24802034		2197	4300	6497	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802034C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2071C>T	16.37:g.24802034C>T	ENSP00000379144:p.Gln691*					TNRC6A_uc010bxs.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc010vcc.1_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmn.2_Nonsense_Mutation_p.Q438*|TNRC6A_uc002dmo.2_Nonsense_Mutation_p.Q438*	p.Q691*	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2185	+			691			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.2071C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	38	6.697968	0.97772	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.8128	14.6234	0.68602	0.0:0.7337:0.2663:0.0	.	.	.	.	X	691	.	ENSP00000326900:Q691X	Q	+	1	0	TNRC6A	24709535	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.701000	0.54793	2.672000	0.90937	0.557000	0.71058	CAG		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		23	55	0	0	0	0.00278	0	23	55		
SULT1A2	6799	broad.mit.edu	37	16	28603594	28603594	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:28603594G>A	ENST00000395630.1	-	7	1115	c.765C>T	c.(763-765)ttC>ttT	p.F255F	SULT1A2_ENST00000335715.4_Silent_p.F255F|SULT1A2_ENST00000533150.1_Silent_p.F222F	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTTTCCTCATGAAGGGGGAGA	0.602																																						uc002dqg.1		NaN																	0					0						c.(763-765)TTC>TTT		sulfotransferase family, cytosolic, 1A,							162.0	150.0	154.0					16																	28603594		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603594G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.765C>T	16.37:g.28603594G>A						uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.F255F	p.F255F	NM_177528	NP_803564	P50226	ST1A2_HUMAN			7	1116	-			255					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.765C>T	CCDS10636.1																																																																																				0.602	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2		NM_001054		45	152	0	0	0	0.00361	0	45	152		
SRCAP	10847	broad.mit.edu	37	16	30723652	30723652	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:30723652C>G	ENST00000262518.4	+	13	2270	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	SRCAP_ENST00000395059.2_Missense_Mutation_p.L629V|SRCAP_ENST00000344771.4_Missense_Mutation_p.L629V|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	629					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAGACTGGCTGGTTACCAT	0.522																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(1885-1887)CTG>GTG		Snf2-related CBP activator protein							101.0	92.0	95.0					16																	30723652		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723652C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1885C>G	16.37:g.30723652C>G	ENSP00000262518:p.Leu629Val					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L486V|SRCAP_uc010bzz.1_Missense_Mutation_p.L199V	p.L629V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		13	2270	+			629					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1885C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877489	0.33162	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94862	-3.54;-3.54;-3.54	5.22	3.23	0.37069	DEAD-like helicase (1);SNF2-related (1);	0.155857	0.30383	N	0.009759	D	0.96904	0.8989	M	0.90814	3.15	0.44485	D	0.997421	D;P;P	0.76494	0.999;0.944;0.955	D;P;P	0.81914	0.995;0.646;0.759	D	0.95770	0.8808	10	0.87932	D	0	-7.7785	6.3459	0.21349	0.1514:0.6901:0.0:0.1585	.	629;629;629	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	629	ENSP00000262518:L629V;ENSP00000378499:L629V;ENSP00000343042:L629V	ENSP00000262518:L629V	L	+	1	2	SRCAP	30631153	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.259000	0.32956	0.864000	0.35578	0.563000	0.77884	CTG		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		6	155	0	0	0	0.001168	0	6	155		
ZNF668	79759	broad.mit.edu	37	16	31075325	31075325	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31075325G>A	ENST00000538906.1	-	2	1240	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ZNF668_ENST00000535577.1_Silent_p.L152L|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Silent_p.L175L|ZNF668_ENST00000394983.2_Silent_p.L152L|ZNF668_ENST00000426488.2_Silent_p.L175L|ZNF668_ENST00000300849.4_Silent_p.L152L|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGAGCTTGGAGAGCGCGCCAT	0.672																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NaN																	0				breast(4)	4						c.(454-456)CTC>CTT		zinc finger protein 668							29.0	25.0	27.0					16																	31075325		2197	4299	6496	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075325G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.456C>T	16.37:g.31075325G>A						ZNF668_uc002eao.2_Silent_p.L152L|ZNF668_uc010cag.1_Silent_p.L152L	p.L152L	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			2	813	-			152			C2H2-type 4.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.456C>T	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2		NM_024706		11	16	0	0	0	0.001368	0	11	16		
SLC5A2	6524	broad.mit.edu	37	16	31500575	31500575	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:31500575C>G	ENST00000330498.3	+	12	1600	c.1581C>G	c.(1579-1581)ctC>ctG	p.L527L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	527					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGCACTACCTCTACTTCGCCA	0.642																																						uc002ecf.3		NaN																	0				ovary(1)	1						c.(1579-1581)CTC>CTG		solute carrier family 5 (sodium/glucose							139.0	84.0	102.0					16																	31500575		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500575C>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1581C>G	16.37:g.31500575C>G						SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.L527L	NM_003041	NP_003032	P31639	SC5A2_HUMAN			12	1600	+			527			Helical; (Potential).		A2RRD2	Silent	SNP	ENST00000330498.3	37	c.1581C>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	3.025	-0.200869	0.06219	.	.	ENSG00000140675	ENST00000419665	D	0.87103	-2.21	4.78	1.64	0.23874	.	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85923	0.1447	7	0.87932	D	0	.	7.3688	0.26790	0.0:0.5818:0.2569:0.1613	.	.	.	.	V	421	ENSP00000410601:L421V	ENSP00000410601:L421V	L	+	1	2	SLC5A2	31408076	0.021000	0.18746	1.000000	0.80357	0.077000	0.17291	-0.950000	0.03889	0.239000	0.21243	-1.134000	0.01955	CTA		0.642	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2				13	43	0	0	0	0.001855	0	13	43		
ABCC11	85320	broad.mit.edu	37	16	48237196	48237196	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48237196G>C	ENST00000394747.1	-	13	2170	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L	ABCC11_ENST00000537808.1_Silent_p.L607L|ABCC11_ENST00000353782.5_Silent_p.L607L|ABCC11_ENST00000356608.2_Silent_p.L607L|ABCC11_ENST00000394748.1_Silent_p.L607L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	607	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCAGCAGTGGAGCACCTGGA	0.582																																						uc002eff.1		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1819-1821)CTC>CTG		ATP-binding cassette, sub-family C, member 11							53.0	42.0	45.0					16																	48237196		2201	4295	6496	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48237196G>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1821C>G	16.37:g.48237196G>C						ABCC11_uc002efg.1_Silent_p.L607L|ABCC11_uc002efh.1_Silent_p.L607L|ABCC11_uc010vgk.1_RNA	p.L607L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			13	2171	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	607			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1821C>G	CCDS10732.1																																																																																				0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		8	10	0	0	0	0.006214	0	8	10		
LONP2	83752	broad.mit.edu	37	16	48329968	48329968	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48329968C>T	ENST00000285737.4	+	9	1519	c.1426C>T	c.(1426-1428)Cta>Tta	p.L476L	LONP2_ENST00000535754.1_Silent_p.L432L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGATCATTATCTAAATGTGGC	0.393																																						uc002efi.1		NaN																	0					0						c.(1426-1428)CTA>TTA		peroxisomal LON protease-like							177.0	176.0	176.0					16																	48329968		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48329968C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1426C>T	16.37:g.48329968C>T						LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L432L	p.L476L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			9	1515	+			476						Silent	SNP	ENST00000285737.4	37	c.1426C>T	CCDS10734.1																																																																																				0.393	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2		NM_031490		61	167	0	0	0	0.00361	0	61	167		
N4BP1	9683	broad.mit.edu	37	16	48595368	48595368	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:48595368C>G	ENST00000262384.3	-	2	1422	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	396					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCTGAAAATTCTCTGTCTTCT	0.348																																						uc002efp.2		NaN																	0					0						c.(1186-1188)GAA>CAA		Nedd4 binding protein 1							49.0	47.0	47.0					16																	48595368		1827	4080	5907	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595368C>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1186G>C	16.37:g.48595368C>G	ENSP00000262384:p.Glu396Gln						p.E396Q	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1423	-		all_cancers(37;0.179)|all_lung(18;0.11)	396					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1186G>C	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861736	0.32884	.	.	ENSG00000102921	ENST00000262384	T	0.47869	0.83	5.63	4.67	0.58626	.	0.828235	0.11595	N	0.548325	T	0.32971	0.0847	L	0.27053	0.805	0.09310	N	0.999998	B	0.23316	0.083	B	0.16722	0.016	T	0.05784	-1.0864	10	0.46703	T	0.11	-13.8424	6.8104	0.23801	0.1319:0.6693:0.1278:0.071	.	396	O75113	N4BP1_HUMAN	Q	396	ENSP00000262384:E396Q	ENSP00000262384:E396Q	E	-	1	0	N4BP1	47152869	0.056000	0.20664	0.898000	0.35279	0.988000	0.76386	3.147000	0.50639	2.826000	0.97356	0.655000	0.94253	GAA		0.348	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1		NM_014664		23	47	0	0	0	0.002299	0	23	47		
CHD9	80205	broad.mit.edu	37	16	53338321	53338321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53338321G>C	ENST00000398510.3	+	30	6490	c.6403G>C	c.(6403-6405)Gac>Cac	p.D2135H	CHD9_ENST00000566029.1_Missense_Mutation_p.D2135H|CHD9_ENST00000447540.1_Missense_Mutation_p.D2135H|CHD9_ENST00000564845.1_Missense_Mutation_p.D2135H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2135	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGATTCTGACTCAGATTC	0.458																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6403-6405)GAC>CAC		chromodomain helicase DNA binding protein 9							108.0	101.0	103.0					16																	53338321		1987	4173	6160	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338321G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6403G>C	16.37:g.53338321G>C	ENSP00000381522:p.Asp2135His					CHD9_uc002egy.2_Missense_Mutation_p.D2135H|CHD9_uc002ehc.2_Missense_Mutation_p.D2135H|CHD9_uc002ehf.2_Missense_Mutation_p.D1249H|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Missense_Mutation_p.D141H	p.D2135H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6567	+		all_cancers(37;0.0212)	2135			Ser-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6403G>C		.	.	.	.	.	.	.	.	.	.	G	17.60	3.429923	0.62844	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.82711	-1.64;-1.64	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	D	0.88581	0.6475	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;P;D	0.68192	0.956;0.947;0.887;0.947	D	0.87237	0.2264	10	0.49607	T	0.09	-15.4287	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2135;2135;2135;2135	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	2135	ENSP00000396345:D2135H;ENSP00000381522:D2135H	ENSP00000381522:D2135H	D	+	1	0	CHD9	51895822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.168000	0.94781	2.890000	0.99128	0.650000	0.86243	GAC		0.458	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		6	20	0	0	0	0.001984	0	6	20		
CHD9	80205	broad.mit.edu	37	16	53352139	53352139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53352139G>A	ENST00000398510.3	+	36	7687	c.7600G>A	c.(7600-7602)Gag>Aag	p.E2534K	CHD9_ENST00000566029.1_Missense_Mutation_p.E2518K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2519K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2518K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2534					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAGCTTCATGAGGGAAGACC	0.338																																						uc002ehb.2		NaN																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(7600-7602)GAG>AAG		chromodomain helicase DNA binding protein 9							73.0	70.0	71.0					16																	53352139		1797	4073	5870	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53352139G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7600G>A	16.37:g.53352139G>A	ENSP00000381522:p.Glu2534Lys					CHD9_uc002egy.2_Missense_Mutation_p.E2518K|CHD9_uc002ehc.2_Missense_Mutation_p.E2519K|CHD9_uc002ehf.2_Missense_Mutation_p.E1632K|CHD9_uc010cbw.2_Missense_Mutation_p.E600K	p.E2534K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			36	7764	+		all_cancers(37;0.0212)	2534					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7600G>A		.	.	.	.	.	.	.	.	.	.	G	16.55	3.154302	0.57259	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85702	-2.02	5.61	5.61	0.85477	.	0.101831	0.42294	D	0.000722	D	0.85164	0.5634	N	0.24115	0.695	0.51767	D	0.999932	P;B;D;D	0.62365	0.872;0.277;0.988;0.991	B;B;P;P	0.56563	0.237;0.079;0.709;0.801	T	0.82746	-0.0305	10	0.27082	T	0.32	-17.1073	20.0016	0.97412	0.0:0.0:1.0:0.0	.	600;2519;2534;2518	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	2519;2518;600	ENSP00000396345:E2519K	ENSP00000381522:E2518K	E	+	1	0	CHD9	51909640	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	9.313000	0.96297	2.802000	0.96397	0.655000	0.94253	GAG		0.338	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		12	33	0	0	0	0.001368	0	12	33		
RBL2	5934	broad.mit.edu	37	16	53498194	53498194	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:53498194C>G	ENST00000262133.6	+	12	1754	c.1617C>G	c.(1615-1617)gtC>gtG	p.V539V	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.V323V	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	539	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTTGAGGTCGTCACTTTTT	0.323																																						uc002ehi.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1615-1617)GTC>GTG		retinoblastoma-like 2 (p130)							97.0	100.0	99.0					16																	53498194		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53498194C>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1617C>G	16.37:g.53498194C>G						RBL2_uc010vgv.1_Silent_p.V465V|RBL2_uc002ehj.2_Silent_p.V249V|RBL2_uc010vgw.1_Silent_p.V323V	p.V539V	NM_005611	NP_005602	Q08999	RBL2_HUMAN			12	1735	+			539			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.1617C>G	CCDS10748.1																																																																																				0.323	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611		3	54	0	0	0	0.004672	0	3	54		
IRX5	10265	broad.mit.edu	37	16	54967645	54967645	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:54967645C>T	ENST00000394636.4	+	3	1649	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	IRX5_ENST00000558597.1_Missense_Mutation_p.H372Y|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Missense_Mutation_p.H218Y|IRX5_ENST00000320990.5_Missense_Mutation_p.H437Y			P78411	IRX5_HUMAN	iroquois homeobox 5	438					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						TCCGGGGTCTCATTTCAATGG	0.592																																						uc002ehv.2		NaN																	0					0						c.(1312-1314)CAT>TAT		iroquois homeobox protein 5							34.0	41.0	39.0					16																	54967645		2193	4299	6492	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967645C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1312C>T	16.37:g.54967645C>T	ENSP00000378132:p.His438Tyr					IRX5_uc002ehw.2_Missense_Mutation_p.H372Y	p.H438Y	NM_005853	NP_005844	P78411	IRX5_HUMAN			3	1312	+			438					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1312C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158982	0.57368	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.51071	0.72;0.72	4.5	4.5	0.54988	.	1.950120	0.02156	N	0.058391	T	0.63189	0.2490	L	0.29908	0.895	0.58432	D	0.999999	D	0.57899	0.981	D	0.65140	0.932	T	0.50118	-0.8865	10	0.49607	T	0.09	-6.1999	16.9995	0.86378	0.0:1.0:0.0:0.0	.	438	P78411	IRX5_HUMAN	Y	438;437	ENSP00000378132:H438Y;ENSP00000316250:H437Y	ENSP00000316250:H437Y	H	+	1	0	IRX5	53525146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.274000	0.58921	2.304000	0.77564	0.650000	0.86243	CAT		0.592	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2				31	88	0	0	0	0.008361	0	31	88		
DRC7	84229	broad.mit.edu	37	16	57732921	57732921	+	Silent	SNP	C	C	T	rs116591936		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57732921C>T	ENST00000360716.3	+	4	584	c.363C>T	c.(361-363)aaC>aaT	p.N121N	CCDC135_ENST00000394337.4_Silent_p.N121N|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Silent_p.N121N			Q8IY82	CC135_HUMAN		121					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCCCCTGAACGAGTGTGAAG	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18373	0.0		0.001	False		,,,				2504	0.0					uc002emi.2		NaN																	0				central_nervous_system(1)	1						c.(361-363)AAC>AAT		coiled-coil domain containing 135		C		1,4395	2.1+/-5.4	0,1,2197	121.0	120.0	120.0		363	-4.7	0.8	16	dbSNP_132	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CCDC135	NM_032269.5		0,3,6495	TT,TC,CC		0.0233,0.0227,0.0231		121/875	57732921	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57732921C>T																												ENST00000360716.3:c.363C>T	16.37:g.57732921C>T						CCDC135_uc002emj.2_Silent_p.N121N|CCDC135_uc002emk.2_Silent_p.N121N	p.N121N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			3	452	+			121					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.363C>T	CCDS10787.1																																																																																				0.647	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2				29	219	0	0	0	0.001786	0	29	219		
CNGB1	1258	broad.mit.edu	37	16	57957231	57957231	+	Missense_Mutation	SNP	G	G	C	rs201553871	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:57957231G>C	ENST00000251102.8	-	18	1649	c.1589C>G	c.(1588-1590)cCa>cGa	p.P530R	CNGB1_ENST00000564448.1_Missense_Mutation_p.P524R	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	530					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGACTCTGCTGGTGACAACGC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		15419	0.002		0.0	False		,,,				2504	0.0				Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	0				breast(3)|pancreas(1)	4						c.(1588-1590)CCA>CGA		cyclic nucleotide gated channel beta 1 isoform							69.0	73.0	72.0					16																	57957231		2026	4183	6209	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57957231G>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1589C>G	16.37:g.57957231G>C	ENSP00000251102:p.Pro530Arg					CNGB1_uc010cdh.2_Missense_Mutation_p.P524R	p.P530R	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			18	1654	-			530			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1589C>G	CCDS42169.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.75	1.730862	0.30684	.	.	ENSG00000070729	ENST00000251102	T	0.26810	1.71	4.97	3.0	0.34707	.	0.141524	0.32952	N	0.005443	T	0.40423	0.1116	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.21348	-1.0248	10	0.23891	T	0.37	.	6.5252	0.22297	0.0965:0.1832:0.7204:0.0	.	530	Q14028	CNGB1_HUMAN	R	530	ENSP00000251102:P530R	ENSP00000251102:P530R	P	-	2	0	CNGB1	56514732	1.000000	0.71417	0.988000	0.46212	0.042000	0.13812	5.113000	0.64640	0.676000	0.31285	-0.175000	0.13238	CCA		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		6	83	0	0	0	0.001984	0	6	83		
PRSS54	221191	broad.mit.edu	37	16	58319877	58319877	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58319877C>T	ENST00000219301.4	-	5	880	c.486G>A	c.(484-486)caG>caA	p.Q162Q	PRSS54_ENST00000543437.1_Silent_p.Q63Q|PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000567164.1_Silent_p.Q162Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCAGCAGTTCTGCAAGACTG	0.547																																						uc002enf.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(484-486)CAG>CAA		plasma kallikrein-like protein 4 precursor							123.0	113.0	116.0					16																	58319877		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58319877C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.486G>A	16.37:g.58319877C>T						PRSS54_uc002eng.2_Silent_p.Q162Q|PRSS54_uc010vie.1_Silent_p.Q63Q	p.Q162Q	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			5	881	-			162			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.486G>A	CCDS32463.1																																																																																				0.547	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492		28	77	0	0	0	0.005443	0	28	77		
CNOT1	23019	broad.mit.edu	37	16	58621270	58621270	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:58621270G>C	ENST00000317147.5	-	5	689	c.357C>G	c.(355-357)ctC>ctG	p.L119L	CNOT1_ENST00000441024.2_Silent_p.L119L|CNOT1_ENST00000569240.1_Silent_p.L119L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	119					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCTTAATTTGAGCACTTTAC	0.323																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(355-357)CTC>CTG		CCR4-NOT transcription complex, subunit 1							105.0	110.0	108.0					16																	58621270		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621270G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.357C>G	16.37:g.58621270G>C						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L119L|CNOT1_uc002enx.2_Silent_p.L119L|CNOT1_uc002enz.1_Intron	p.L119L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	5	650	-			119					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.357C>G	CCDS10799.1																																																																																				0.323	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		15	118	0	0	0	0.006122	0	15	118		
CDH5	1003	broad.mit.edu	37	16	66426236	66426236	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:66426236G>C	ENST00000341529.3	+	7	1315	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L	CDH5_ENST00000563425.2_Silent_p.L389L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGAAGCCTCTGATTGGCACAG	0.537																																						uc002eom.3		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1165-1167)CTG>CTC		cadherin 5, type 2 preproprotein							93.0	91.0	92.0					16																	66426236		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426236G>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1167G>C	16.37:g.66426236G>C						CDH5_uc002eon.1_Silent_p.L389L	p.L389L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1323	+		Ovarian(137;0.0955)	389			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1167G>C	CCDS10804.1																																																																																				0.537	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795		41	120	0	0	0	0.006999	0	41	120		
GFOD2	81577	broad.mit.edu	37	16	67709505	67709505	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67709505C>T	ENST00000268797.7	-	3	1056	c.711G>A	c.(709-711)gtG>gtA	p.V237V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	237					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGTTGAGTGTCACTGTGCTAC	0.587																																						uc002eub.2		NaN																	0				ovary(2)|skin(1)	3						c.(709-711)GTG>GTA		glucose-fructose oxidoreductase domain							79.0	68.0	72.0					16																	67709505		2198	4300	6498	SO:0001819	synonymous_variant	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709505C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.711G>A	16.37:g.67709505C>T						GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.V132V	p.V237V	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1006	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	237					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	c.711G>A	CCDS10845.1																																																																																				0.587	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2		NM_030819		22	60	0	0	0	0.001523	0	22	60		
EDC4	23644	broad.mit.edu	37	16	67918030	67918030	+	Silent	SNP	C	C	T	rs142793660	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:67918030C>T	ENST00000358933.5	+	29	4424	c.4185C>T	c.(4183-4185)ctC>ctT	p.L1395L	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_5'Flank|NRN1L_ENST00000339176.3_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1395					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCATGGCCTCGTGACCCCCA	0.627											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eur.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(4183-4185)CTC>CTT		autoantigen RCD8		C		2,4394	4.2+/-10.8	0,2,2196	57.0	43.0	47.0		4185	-6.5	1.0	16	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EDC4	NM_014329.3		0,4,6494	TT,TC,CC		0.0233,0.0455,0.0308		1395/1402	67918030	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67918030C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.4185C>T	16.37:g.67918030C>T			OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1103	EDC4_uc010cer.2_Silent_p.L1014L|EDC4_uc002eus.2_Silent_p.L1125L|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	p.L1395L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	29	4351	+		Ovarian(137;0.0563)	1395					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.4185C>T	CCDS10849.1																																																																																				0.627	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329		11	20	0	0	0	0.000978	0	11	20		
PLA2G15	23659	broad.mit.edu	37	16	68293167	68293167	+	Silent	SNP	C	C	T	rs142263893		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:68293167C>T	ENST00000219345.5	+	6	929	c.846C>T	c.(844-846)ttC>ttT	p.F282F	PLA2G15_ENST00000413021.2_Silent_p.F188F|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.F82F	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	282					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACAC	0.577																																						uc002evr.2		NaN																	0				ovary(1)	1						c.(844-846)TTC>TTT		lysophospholipase 3 (lysosomal phospholipase A2)		C		2,4394	4.2+/-10.8	0,2,2196	65.0	59.0	61.0		846	-6.7	0.1	16	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	PLA2G15	NM_012320.3		0,2,6496	TT,TC,CC		0.0,0.0455,0.0154		282/413	68293167	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293167C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.846C>T	16.37:g.68293167C>T						PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.F188F|PLA2G15_uc010vlf.1_Silent_p.F82F|PLA2G15_uc002evs.2_Silent_p.F103F	p.F282F	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			6	929	+			282					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.846C>T	CCDS10864.1																																																																																				0.577	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2		NM_012320		21	64	0	0	0	0.001523	0	21	64		
SF3B3	23450	broad.mit.edu	37	16	70589022	70589022	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70589022G>C	ENST00000302516.5	+	13	1834	c.1623G>C	c.(1621-1623)aaG>aaC	p.K541N		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	541					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCCCTGGAAAGAAAACAATTG	0.453																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(1621-1623)AAG>AAC		splicing factor 3b, subunit 3							212.0	203.0	206.0					16																	70589022		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589022G>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1623G>C	16.37:g.70589022G>C	ENSP00000305790:p.Lys541Asn						p.K541N	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			13	1834	+		Ovarian(137;0.0694)	541					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1623G>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156634	0.38119	.	.	ENSG00000189091	ENST00000302516	T	0.05319	3.46	5.97	2.7	0.31948	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.45581	1.43	0.58432	D	0.999996	B	0.20052	0.041	B	0.27608	0.081	T	0.25606	-1.0127	10	0.33141	T	0.24	.	9.2041	0.37278	0.2934:0.0:0.7066:0.0	.	541	Q15393	SF3B3_HUMAN	N	541	ENSP00000305790:K541N	ENSP00000305790:K541N	K	+	3	2	SF3B3	69146523	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.420000	0.44679	0.328000	0.23435	0.591000	0.81541	AAG		0.453	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		46	93	0	0	0	0.003214	0	46	93		
HYDIN	54768	broad.mit.edu	37	16	70843806	70843806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:70843806C>T	ENST00000393567.2	-	85	14913	c.14763G>A	c.(14761-14763)ctG>ctA	p.L4921L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4921					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGTGGCTTTCAGATAGAGCT	0.468																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(14758-14760)CTG>CTA		hydrocephalus inducing isoform a							356.0	363.0	361.0					16																	70843806		1964	4151	6115	SO:0001819	synonymous_variant	54768							g.chr16:70843806C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14763G>A	16.37:g.70843806C>T						HYDIN_uc010cfy.2_RNA	p.L4920L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			85	14888	-		Ovarian(137;0.0654)	4921					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14760G>A	CCDS59269.1																																																																																				0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				196	479	0	0	0	0.00361	0	196	479		
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:71571634G>A	ENST00000338482.5	+	3	1397	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	CHST4_ENST00000539698.3_Missense_Mutation_p.D352N|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	352					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D352N(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fan.2		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(1054-1056)GAT>AAT		carbohydrate (N-acetylglucosamine 6-O)							60.0	58.0	59.0					16																	71571634		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571634G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1054G>A	16.37:g.71571634G>A	ENSP00000341206:p.Asp352Asn		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Missense_Mutation_p.D352N	p.D352N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	1235	+			352			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.1054G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	4.883	0.164140	0.09287	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82081	-1.57;-1.57	6.17	4.14	0.48551	Sulfotransferase domain (1);	0.436915	0.26450	N	0.024312	T	0.73489	0.3593	L	0.41824	1.3	0.21861	N	0.999505	B	0.25312	0.123	B	0.26969	0.075	T	0.57283	-0.7838	10	0.19147	T	0.46	-19.4061	8.8072	0.34945	0.0844:0.189:0.7266:0.0	.	352	Q8NCG5	CHST4_HUMAN	N	352	ENSP00000341206:D352N;ENSP00000441204:D352N	ENSP00000341206:D352N	D	+	1	0	CHST4	70129135	1.000000	0.71417	0.003000	0.11579	0.062000	0.15995	5.677000	0.68142	0.813000	0.34350	0.655000	0.94253	GAT		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		NM_005769		14	77	0	0	0	0.00245	0	14	77		
PMFBP1	83449	broad.mit.edu	37	16	72156877	72156877	+	Missense_Mutation	SNP	C	C	T	rs145484256		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:72156877C>T	ENST00000537792.1	-	3	201	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E907K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E757K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E902K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	907						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTAGTTTCTCATTGGCGACC	0.532																																						uc002fcc.3		NaN																	0				ovary(2)	2						c.(2719-2721)GAG>AAG		polyamine modulated factor 1 binding protein 1							72.0	69.0	70.0					16																	72156877		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72156877C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.202G>A	16.37:g.72156877C>T	ENSP00000443366:p.Glu68Lys					PMFBP1_uc002fcd.2_Missense_Mutation_p.E902K|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E757K	p.E907K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			19	2891	-		Ovarian(137;0.179)	907					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2719G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.498364	0.85069	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.65364	-0.15;1.91;1.9;1.36	4.87	4.87	0.63330	.	0.000000	0.48767	D	0.000177	T	0.74191	0.3684	M	0.70595	2.14	0.34596	D	0.71603	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.83275	0.99;0.996;0.987	T	0.74551	-0.3628	10	0.11794	T	0.64	-27.6053	13.3764	0.60741	0.0:1.0:0.0:0.0	.	907;902;907	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	68;907;902;757	ENSP00000443366:E68K;ENSP00000443817:E907K;ENSP00000237353:E902K;ENSP00000347854:E757K	ENSP00000237353:E902K	E	-	1	0	PMFBP1	70714378	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.585000	0.53943	2.526000	0.85167	0.585000	0.79938	GAG		0.532	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1		NM_031293		25	80	0	0	0	0.004656	0	25	80		
MLKL	197259	broad.mit.edu	37	16	74706420	74706420	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74706420G>C	ENST00000308807.7	-	11	1861	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L	MLKL_ENST00000306247.7_Silent_p.L258L	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						AAAAGGTGGAGAGTTTCTTTA	0.408																																						uc002fdb.2		NaN																	0				stomach(2)	2						c.(1396-1398)CTC>CTG		mixed lineage kinase domain-like isoform 1							150.0	160.0	157.0					16																	74706420		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74706420G>C	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1398C>G	16.37:g.74706420G>C						MLKL_uc002fdc.2_Silent_p.L258L	p.L466L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			11	1839	-			466			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.1398C>G	CCDS32487.1																																																																																				0.408	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3		NM_152649		53	160	0	0	0	0.00361	0	53	160		
WDR59	79726	broad.mit.edu	37	16	74920244	74920244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:74920244C>A	ENST00000262144.6	-	24	2600	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	824										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CGGAGCTCTTCTGGTGAGGAT	0.527																																						uc002fdh.1		NaN																	0				ovary(1)|breast(1)	2						c.(2470-2472)GAA>TAA		WD repeat domain 59							106.0	103.0	104.0					16																	74920244		2198	4300	6498	SO:0001587	stop_gained	79726							g.chr16:74920244C>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2470G>T	16.37:g.74920244C>A	ENSP00000262144:p.Glu824*					WDR59_uc002fdf.1_Nonsense_Mutation_p.E269*|WDR59_uc002fdg.1_Nonsense_Mutation_p.E416*	p.E824*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			24	2572	-			824					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Nonsense_Mutation	SNP	ENST00000262144.6	37	c.2470G>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	40	8.207651	0.98706	.	.	ENSG00000103091	ENST00000262144	.	.	.	5.29	5.29	0.74685	.	0.048585	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.4421	18.9199	0.92520	0.0:1.0:0.0:0.0	.	.	.	.	X	824	.	ENSP00000262144:E824X	E	-	1	0	WDR59	73477745	1.000000	0.71417	0.987000	0.45799	0.063000	0.16089	7.499000	0.81566	2.461000	0.83175	0.505000	0.49811	GAA		0.527	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3		NM_030581		35	86	1	0	6.53348e-20	0.003755	8.28917e-20	35	86		
VAT1L	57687	broad.mit.edu	37	16	77822778	77822778	+	Missense_Mutation	SNP	C	C	G	rs376909830		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:77822778C>G	ENST00000302536.2	+	1	352	c.199C>G	c.(199-201)Cag>Gag	p.Q67E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	67							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCCGAGCCTCAGGACGGCGA	0.672																																						uc002ffg.1		NaN																	0				central_nervous_system(1)	1						c.(199-201)CAG>GAG		vesicle amine transport protein 1 homolog (T.							28.0	33.0	31.0					16																	77822778		2180	4274	6454	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77822778C>G	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.199C>G	16.37:g.77822778C>G	ENSP00000303129:p.Gln67Glu						p.Q67E	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			1	296	+			67					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.199C>G	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076012	0.20227	.	.	ENSG00000171724	ENST00000302536	T	0.40225	1.04	4.79	4.79	0.61399	GroES-like (1);	0.116909	0.64402	D	0.000012	T	0.37652	0.1011	L	0.47716	1.5	0.54753	D	0.999986	B	0.22851	0.076	B	0.15484	0.013	T	0.14172	-1.0482	10	0.31617	T	0.26	2.8054	16.5741	0.84632	0.0:1.0:0.0:0.0	.	67	Q9HCJ6	VAT1L_HUMAN	E	67	ENSP00000303129:Q67E	ENSP00000303129:Q67E	Q	+	1	0	VAT1L	76380279	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.824000	0.75288	2.489000	0.83994	0.555000	0.69702	CAG		0.672	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1		NM_020927		6	13	0	0	0	0.001984	0	6	13		
PLCG2	5336	broad.mit.edu	37	16	81960752	81960752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:81960752C>G	ENST00000359376.3	+	23	2697	c.2483C>G	c.(2482-2484)tCa>tGa	p.S828*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	828	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGGACATCTCAACTGCAGAC	0.527																																						uc002fgt.2		NaN																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2482-2484)TCA>TGA		phospholipase C, gamma 2							157.0	155.0	156.0					16																	81960752		2017	4175	6192	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81960752C>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2483C>G	16.37:g.81960752C>G	ENSP00000352336:p.Ser828*						p.S828*	NM_002661	NP_002652	P16885	PLCG2_HUMAN			23	2635	+			828			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.2483C>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	39	7.813257	0.98504	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.29	5.29	0.74685	.	0.183451	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.9351	0.92582	0.0:1.0:0.0:0.0	.	.	.	.	X	828	.	ENSP00000352336:S828X	S	+	2	0	PLCG2	80518253	0.939000	0.31865	0.744000	0.31058	0.119000	0.20118	3.667000	0.54547	2.473000	0.83533	0.655000	0.94253	TCA		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1				59	144	0	0	0	0.00361	0	59	144		
MPHOSPH6	10200	broad.mit.edu	37	16	82197748	82197748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:82197748C>T	ENST00000258169.4	-	2	153	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.E17K|MPHOSPH6_ENST00000567729.1_5'UTR|MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.E35K	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	35	Poly-Glu.				maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						ATTTTCTTTTCTTCTTCTTCT	0.353																																						uc002fgw.2		NaN																	0					0						c.(103-105)GAA>AAA		M-phase phosphoprotein 6							82.0	86.0	85.0					16																	82197748		2200	4299	6499	SO:0001583	missense	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82197748C>T	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.103G>A	16.37:g.82197748C>T	ENSP00000258169:p.Glu35Lys						p.E35K	NM_005792	NP_005783	Q99547	MPH6_HUMAN			2	152	-			35			Poly-Glu.		B2RAF0	Missense_Mutation	SNP	ENST00000258169.4	37	c.103G>A	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507699	0.85282	.	.	ENSG00000135698	ENST00000258169	T	0.50001	0.76	5.53	5.53	0.82687	.	0.097290	0.64402	D	0.000002	T	0.63070	0.2480	M	0.75615	2.305	0.53005	D	0.999965	P	0.49358	0.923	P	0.54100	0.742	T	0.62029	-0.6940	10	0.41790	T	0.15	-12.5209	17.2984	0.87175	0.0:1.0:0.0:0.0	.	35	Q99547	MPH6_HUMAN	K	35	ENSP00000258169:E35K	ENSP00000258169:E35K	E	-	1	0	MPHOSPH6	80755249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.287000	0.65645	2.758000	0.94735	0.655000	0.94253	GAA		0.353	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1		NM_005792		22	58	0	0	0	0.00278	0	22	58		
KIAA0513	9764	broad.mit.edu	37	16	85120761	85120761	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:85120761A>G	ENST00000566428.1	+	12	1806	c.1175A>G	c.(1174-1176)aAc>aGc	p.N392S	KIAA0513_ENST00000538274.1_Missense_Mutation_p.N382S|KIAA0513_ENST00000258180.3_Missense_Mutation_p.N392S			O60268	K0513_HUMAN	KIAA0513	392						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGATTGGCAACCTGGATGAA	0.602											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fiu.2		NaN																	0				breast(1)	1						c.(1174-1176)AAC>AGC		hypothetical protein LOC9764							90.0	81.0	84.0					16																	85120761		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85120761A>G	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1175A>G	16.37:g.85120761A>G	ENSP00000457408:p.Asn392Ser		OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1234	KIAA0513_uc010voj.1_Missense_Mutation_p.N382S	p.N392S	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	12	1395	+			392					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.1175A>G	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949139	0.53186	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.54675	0.82;0.56	4.97	4.97	0.65823	.	0.093515	0.64402	D	0.000001	T	0.40979	0.1139	L	0.31526	0.94	0.48830	D	0.999718	P;P	0.46784	0.884;0.816	B;B	0.39503	0.301;0.158	T	0.43081	-0.9413	10	0.54805	T	0.06	-14.6303	13.4774	0.61316	1.0:0.0:0.0:0.0	.	382;392	B4DSS5;O60268	.;K0513_HUMAN	S	382;392	ENSP00000446439:N382S;ENSP00000258180:N392S	ENSP00000258180:N392S	N	+	2	0	KIAA0513	83678262	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.853000	0.55941	1.856000	0.53863	0.379000	0.24179	AAC		0.602	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1		NM_014732		14	51	0	0	0	0.00245	0	14	51		
IL17C	27189	broad.mit.edu	37	16	88706324	88706324	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706324C>G	ENST00000244241.4	+	3	487	c.438C>G	c.(436-438)ctC>ctG	p.L146L		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	146					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CAGCTGCGCTCAACTCCGTGC	0.687																																						uc002fla.2		NaN																	0					0						c.(436-438)CTC>CTG		interleukin 17C precursor							24.0	30.0	28.0					16																	88706324		2082	4195	6277	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706324C>G	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.438C>G	16.37:g.88706324C>G							p.L146L	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	487	+			146					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.438C>G	CCDS42217.1																																																																																				0.687	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1		NM_013278		12	25	0	0	0	0.000978	0	12	25		
IL17C	27189	broad.mit.edu	37	16	88706361	88706361	+	Missense_Mutation	SNP	C	C	T	rs367691676		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:88706361C>T	ENST00000244241.4	+	3	524	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	159					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTGGTGCTGCGCCGCCGGCC	0.701																																						uc002fla.2		NaN																	0					0						c.(475-477)CGC>TGC		interleukin 17C precursor		C	CYS/ARG	0,4082		0,0,2041	23.0	29.0	27.0		475	2.4	1.0	16		27	1,8335		0,1,4167	no	missense	IL17C	NM_013278.3	180	0,1,6208	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	159/198	88706361	1,12417	2041	4168	6209	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706361C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.475C>T	16.37:g.88706361C>T	ENSP00000244241:p.Arg159Cys						p.R159C	NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	524	+			159					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.475C>T	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267728	0.59540	0.0	1.2E-4	ENSG00000124391	ENST00000244241	T	0.68479	-0.33	4.45	2.39	0.29439	.	0.243756	0.27393	N	0.019568	T	0.82222	0.4990	M	0.88979	2.995	0.39802	D	0.972588	D	0.89917	1.0	D	0.75484	0.986	D	0.83613	0.0135	10	0.72032	D	0.01	-25.1727	11.2812	0.49195	0.4978:0.5022:0.0:0.0	.	159	Q9P0M4	IL17C_HUMAN	C	159	ENSP00000244241:R159C	ENSP00000244241:R159C	R	+	1	0	IL17C	87233862	0.124000	0.22315	0.968000	0.41197	0.590000	0.36582	-0.040000	0.12104	0.275000	0.22094	0.561000	0.74099	CGC		0.701	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1		NM_013278		17	38	0	0	0	0.00499	0	17	38		
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89611106G>T	ENST00000268704.2	+	10	1390	c.1375G>T	c.(1375-1377)Gac>Tac	p.D459Y		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602																																						uc002fnj.2		NaN																	0					0						c.(1375-1377)GAC>TAC		spastic paraplegia 7 isoform 1							163.0	129.0	141.0					16																	89611106		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89611106G>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1375G>T	16.37:g.89611106G>T	ENSP00000268704:p.Asp459Tyr					SPG7_uc002fnk.1_RNA	p.D459Y	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	10	1396	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	459			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1375G>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823903	0.90873	.	.	ENSG00000197912	ENST00000268704	D	0.95482	-3.72	5.0	5.0	0.66597	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99160	1.0861	10	0.87932	D	0	-0.9236	18.2856	0.90113	0.0:0.0:1.0:0.0	.	459	Q9UQ90	SPG7_HUMAN	Y	459	ENSP00000268704:D459Y	ENSP00000268704:D459Y	D	+	1	0	SPG7	88138607	1.000000	0.71417	0.980000	0.43619	0.902000	0.53008	9.610000	0.98337	2.342000	0.79632	0.462000	0.41574	GAC		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		NM_003119		44	87	1	0	9.39024e-22	0.002222	1.19346e-21	44	87		
SPIRE2	84501	broad.mit.edu	37	16	89929889	89929889	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr16:89929889C>T	ENST00000378247.3	+	11	1624	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SPIRE2_ENST00000393062.2_Silent_p.F527F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	527					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTAGGAGTTCAGCCACCCCG	0.597																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(1579-1581)TTC>TTT		spire homolog 2							48.0	47.0	47.0					16																	89929889		2198	4300	6498	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89929889C>T	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1581C>T	16.37:g.89929889C>T						SPIRE2_uc010ciw.1_Silent_p.F527F|SPIRE2_uc002fpa.1_Silent_p.F479F|SPIRE2_uc010cix.1_Silent_p.F394F	p.F527F	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	11	1633	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	527					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1581C>T	CCDS32516.1																																																																																				0.597	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		12	36	0	0	0	0.001368	0	12	36		
SMG6	23293	broad.mit.edu	37	17	2202598	2202598	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:2202598G>A	ENST00000263073.6	-	2	1499	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	SMG6_ENST00000544865.1_Silent_p.V452V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	483	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGTAGGGCTGACTTCATCAT	0.512																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1		NaN																	0				central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1447-1449)GTC>GTT		Smg-6 homolog, nonsense mediated mRNA decay							132.0	147.0	142.0					17																	2202598		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202598G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1449C>T	17.37:g.2202598G>A						SMG6_uc002fud.1_Silent_p.V452V	p.V483V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1504	-			483			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1449C>T	CCDS11016.1																																																																																				0.512	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3				102	157	0	0	0	0.00361	0	102	157		
OR1G1	8390	broad.mit.edu	37	17	3030061	3030061	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3030061G>C	ENST00000328890.2	-	1	814	c.785C>G	c.(784-786)tCt>tGt	p.S262C		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	262					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGTTGAGGGAGAACTGAAATC	0.483																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1		NaN																	0					0						c.(784-786)TCT>TGT		olfactory receptor, family 1, subfamily G,							79.0	68.0	72.0					17																	3030061		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030061G>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.785C>G	17.37:g.3030061G>C	ENSP00000331545:p.Ser262Cys						p.S262C	NM_003555	NP_003546	P47890	OR1G1_HUMAN			1	785	-			262			Extracellular (Potential).		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.785C>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812899	0.16537	.	.	ENSG00000183024	ENST00000328890	T	0.00164	8.64	4.64	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.80847	2.515	0.09310	N	1	B	0.25312	0.123	B	0.19666	0.026	T	0.37244	-0.9714	9	0.72032	D	0.01	.	11.6121	0.51066	0.0:0.0:0.8219:0.1781	.	262	P47890	OR1G1_HUMAN	C	262	ENSP00000331545:S262C	ENSP00000331545:S262C	S	-	2	0	OR1G1	2976811	0.988000	0.35896	0.041000	0.18516	0.394000	0.30568	2.881000	0.48538	2.447000	0.82792	0.523000	0.50628	TCT		0.483	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2				19	35	0	0	0	0.007413	0	19	35		
CAMKK1	84254	broad.mit.edu	37	17	3779565	3779565	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:3779565G>A	ENST00000348335.2	-	10	1096	c.948C>T	c.(946-948)ttC>ttT	p.F316F	CAMKK1_ENST00000381769.2_Silent_p.F343F|CAMKK1_ENST00000381771.2_Silent_p.F354F|CAMKK1_ENST00000158166.5_Silent_p.F354F	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGGGGGCCATGAATGCTGGGG	0.627																																						uc002fwt.2		NaN																	0				ovary(1)	1						c.(946-948)TTC>TTT		calcium/calmodulin-dependent protein kinase 1							76.0	62.0	67.0					17																	3779565		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779565G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.948C>T	17.37:g.3779565G>A						CAMKK1_uc002fwu.2_Silent_p.F316F|CAMKK1_uc002fwv.2_Silent_p.F354F	p.F316F	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1042	-			316			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.948C>T	CCDS11038.1																																																																																				0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1		NM_032294, NM_172206, NM_172207		21	37	0	0	0	0.001882	0	21	37		
MYBBP1A	10514	broad.mit.edu	37	17	4451467	4451467	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:4451467G>A	ENST00000254718.4	-	12	2001	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MYBBP1A_ENST00000381556.2_Silent_p.F565F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	565	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGCGCAGTGAAGGGTGTCA	0.662																																						uc002fyb.3		NaN																	0				ovary(1)|skin(1)	2						c.(1693-1695)TTC>TTT		MYB binding protein 1a isoform 2							64.0	58.0	60.0					17																	4451467		2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4451467G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1695C>T	17.37:g.4451467G>A						MYBBP1A_uc002fxz.3_Silent_p.F565F	p.F565F	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			12	1757	-			565			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1695C>T	CCDS11046.1																																																																																				0.662	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2		NM_014520		22	34	0	0	0	0.002299	0	22	34		
EIF4A1	1973	broad.mit.edu	37	17	7480991	7480991	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7480991G>T	ENST00000293831.8	+	8	889	c.873G>T	c.(871-873)aaG>aaT	p.K291N	SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.K291N|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.K291N|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	291	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCACCGAGAAGATGCATGCTC	0.547																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1		NaN																	0				ovary(1)	1						c.(871-873)AAG>AAT		eukaryotic translation initiation factor 4A							153.0	141.0	145.0					17																	7480991		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7480991G>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.873G>T	17.37:g.7480991G>T	ENSP00000293831:p.Lys291Asn					EIF4A1_uc002ghr.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghq.1_Missense_Mutation_p.K291N|EIF4A1_uc002ghp.1_Missense_Mutation_p.K291N|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.K291N	NM_001416	NP_001407	P60842	IF4A1_HUMAN			16	2198	+			291			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.873G>T	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071970	0.36566	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.04917	3.53	5.35	3.0	0.34707	Helicase, C-terminal (2);	0.090248	0.85682	D	0.000000	T	0.08268	0.0206	L	0.43923	1.385	0.80722	D	1	B;B;B	0.31949	0.043;0.348;0.344	B;B;B	0.37650	0.034;0.255;0.179	T	0.18209	-1.0344	10	0.66056	D	0.02	-29.2305	10.7153	0.46008	0.1855:0.0:0.8145:0.0	.	291;291;291	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	N	291;114	ENSP00000293831:K291N	ENSP00000293831:K291N	K	+	3	2	EIF4A1	7421715	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.662000	0.46766	1.269000	0.44280	0.561000	0.74099	AAG		0.547	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6		NM_001416		23	107	1	0	2.98393e-07	0.00278	3.61689e-07	23	107		
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000420246.2_Missense_Mutation_p.R280T	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ACA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>G	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.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		12	20	0	0	0	0.000978	0	12	20		
CYB5D1	124637	broad.mit.edu	37	17	7761959	7761959	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:7761959G>A	ENST00000332439.4	+	3	425	c.273G>A	c.(271-273)ctG>ctA	p.L91L	LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.L91L|LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575208.1_5'Flank|CYB5D1_ENST00000570446.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	91	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.						heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CCGGCTGCCTGAGGTACTGCA	0.627											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjb.3		NaN																	0				skin(1)	1						c.(271-273)CTG>CTA		cytochrome b5 domain containing 1							56.0	59.0	58.0					17																	7761959		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761959G>A	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.273G>A	17.37:g.7761959G>A			OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.L91L	p.L91L	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN			3	662	+		all_cancers(10;0.11)|Prostate(122;0.219)	91			Cytochrome b5 heme-binding.		D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.273G>A	CCDS11123.1																																																																																				0.627	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1		NM_144607		54	77	0	0	0	0.00361	0	54	77		
PIK3R5	23533	broad.mit.edu	37	17	8794166	8794166	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:8794166C>G	ENST00000447110.1	-	7	670	c.546G>C	c.(544-546)ctG>ctC	p.L182L	PIK3R5_ENST00000581552.1_Silent_p.L182L|PIK3R5_ENST00000584803.1_Silent_p.L182L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	182					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGGCGTACTCAGCTTATTGG	0.647																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NaN																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(544-546)CTG>CTC		phosphoinositide-3-kinase, regulatory subunit 5							151.0	115.0	127.0					17																	8794166		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8794166C>G	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.546G>C	17.37:g.8794166C>G						PIK3R5_uc010vuz.1_Silent_p.L182L|PIK3R5_uc002glu.3_Intron|PIK3R5_uc010coa.1_Silent_p.L182L|PIK3R5_uc010cob.1_5'UTR	p.L182L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			7	613	-			182					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.546G>C	CCDS11147.1																																																																																				0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308		9	29	0	0	0	0.004482	0	9	29		
MYH3	4621	broad.mit.edu	37	17	10543550	10543550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:10543550G>C	ENST00000583535.1	-	22	2532	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	MYH3_ENST00000226209.7_Missense_Mutation_p.I815M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	815					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTGTACTGGATGCAGAAGA	0.478																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2443-2445)ATC>ATG		myosin, heavy chain 3, skeletal muscle,							113.0	106.0	109.0					17																	10543550		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543550G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2445C>G	17.37:g.10543550G>C	ENSP00000464317:p.Ile815Met						p.I815M	NM_002470	NP_002461	P11055	MYH3_HUMAN			21	2522	-			815					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2445C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542719	0.45280	.	.	ENSG00000109063	ENST00000226209	T	0.79554	-1.28	5.4	4.42	0.53409	.	.	.	.	.	D	0.87245	0.6129	M	0.90922	3.16	0.37481	D	0.916005	P	0.37061	0.58	P	0.47251	0.542	D	0.90095	0.4180	9	0.72032	D	0.01	.	9.8089	0.40810	0.2048:0.0:0.7952:0.0	.	815	P11055	MYH3_HUMAN	M	815	ENSP00000226209:I815M	ENSP00000226209:I815M	I	-	3	3	MYH3	10484275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.330000	0.33781	2.685000	0.91497	0.561000	0.74099	ATC		0.478	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		18	42	0	0	0	0.006122	0	18	42		
ZNF624	57547	broad.mit.edu	37	17	16525625	16525625	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16525625G>C	ENST00000311331.7	-	6	2666	c.2575C>G	c.(2575-2577)Caa>Gaa	p.Q859E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	859					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTTTCTCTTTGATGTATTCTT	0.323																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2575-2577)CAA>GAA		zinc finger protein 624							112.0	116.0	114.0					17																	16525625		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16525625G>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2575C>G	17.37:g.16525625G>C	ENSP00000310472:p.Gln859Glu						p.Q859E	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	2658	-			859					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2575C>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	2.985	-0.209481	0.06140	.	.	ENSG00000197566	ENST00000311331	T	0.35789	1.29	2.97	2.97	0.34412	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	N	0.04669	-0.19	0.19945	N	0.999949	P	0.37864	0.61	B	0.34824	0.19	T	0.06445	-1.0826	9	0.87932	D	0	.	8.188	0.31350	0.0:0.2479:0.7521:0.0	.	859	Q9P2J8	ZN624_HUMAN	E	859	ENSP00000310472:Q859E	ENSP00000310472:Q859E	Q	-	1	0	ZNF624	16466350	0.804000	0.28969	0.996000	0.52242	0.482000	0.33219	0.991000	0.29654	1.983000	0.57843	0.563000	0.77884	CAA		0.323	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3		XM_047617		21	69	0	0	0	0.00278	0	21	69		
CCDC144A	9720	broad.mit.edu	37	17	16612919	16612919	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:16612919G>C	ENST00000360524.8	+	5	1624	c.1548G>C	c.(1546-1548)ttG>ttC	p.L516F	RN7SL620P_ENST00000580704.1_RNA|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L516F|CCDC144A_ENST00000340621.5_Missense_Mutation_p.L515F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L516F|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000443444.2_Missense_Mutation_p.L516F	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	516																	TCCTGGCTTTGAAGAAAGAAG	0.353																																						uc002gqk.1		NaN																	0					0						c.(1546-1548)TTG>TTC		coiled-coil domain containing 144A							86.0	82.0	83.0					17																	16612919		1822	4077	5899	SO:0001583	missense	9720							g.chr17:16612919G>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1548G>C	17.37:g.16612919G>C	ENSP00000353717:p.Leu516Phe					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.L516F	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	1624	+			516			Potential.		O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1548G>C	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.934395	0.34096	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	1.38	1.38	0.22167	.	.	.	.	.	T	0.15176	0.0366	L	0.39898	1.24	0.80722	D	1	D	0.56521	0.976	P	0.47402	0.546	T	0.29427	-1.0012	9	0.09843	T	0.71	.	3.7995	0.08753	0.2532:0.0:0.7468:0.0	.	516	A2RUR9	C144A_HUMAN	F	317;515;516;516;516;516;516	ENSP00000344740:L515F;ENSP00000382215:L516F;ENSP00000439262:L516F;ENSP00000440655:L516F;ENSP00000353717:L516F;ENSP00000353685:L516F	ENSP00000344740:L515F	L	+	3	2	CCDC144A	16553644	1.000000	0.71417	0.156000	0.22583	0.058000	0.15608	3.521000	0.53472	0.738000	0.32606	0.175000	0.17021	TTG		0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1				61	104	0	0	0	0.00361	0	61	104		
SREBF1	6720	broad.mit.edu	37	17	17716007	17716007	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:17716007G>C	ENST00000261646.5	-	19	3557	c.3373C>G	c.(3373-3375)Cgc>Ggc	p.R1125G	SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1155G|SREBF1_ENST00000395757.1_Missense_Mutation_p.R871G|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1125					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGCAGCCGGCGATCGCCAAGC	0.706																																						uc002gru.1		NaN																	0				skin(1)	1						c.(3373-3375)CGC>GGC		sterol regulatory element binding transcription							27.0	24.0	25.0					17																	17716007		2194	4290	6484	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17716007G>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3373C>G	17.37:g.17716007G>C	ENSP00000261646:p.Arg1125Gly					SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.R744G|SREBF1_uc002grq.1_Missense_Mutation_p.R644G|SREBF1_uc002grr.1_Missense_Mutation_p.R871G|SREBF1_uc002grs.1_Missense_Mutation_p.R1101G|SREBF1_uc002grt.1_Missense_Mutation_p.R1155G	p.R1125G	NM_004176	NP_004167	P36956	SRBP1_HUMAN			19	3567	-			1125			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.3373C>G	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.92|19.92	3.916494|3.916494	0.73098|0.73098	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	5.17|5.17	3.02|3.02	0.34903|0.34903	.|.	0.349225|.	0.27645|.	N|.	0.018445|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P|.	0.49862|.	0.765;0.913;0.929|.	B;B;P|.	0.57425|.	0.253;0.438;0.82|.	T|T	0.54556|0.54556	-0.8276|-0.8276	10|5	0.72032|.	D|.	0.01|.	-9.6811|-9.6811	6.0165|6.0165	0.19605|0.19605	0.1022:0.0:0.4989:0.3989|0.1022:0.0:0.4989:0.3989	.|.	1125;1155;744|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	G|W	1155;1125;871;744;962;1051|1132	ENSP00000348069:R1155G;ENSP00000261646:R1125G;ENSP00000379106:R871G|.	ENSP00000261646:R1125G|.	R|S	-|-	1|2	0|0	SREBF1|SREBF1	17656732|17656732	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.954000|0.954000	0.61252|0.61252	3.056000|3.056000	0.49923|0.49923	1.168000|1.168000	0.42723|0.42723	0.462000|0.462000	0.41574|0.41574	CGC|TCG		0.706	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176		3	12	0	0	0	0.004672	0	3	12		
ALDH3A1	218	broad.mit.edu	37	17	19642974	19642974	+	Silent	SNP	G	G	A	rs151020632		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:19642974G>A	ENST00000457500.2	-	7	1292	c.963C>T	c.(961-963)ctC>ctT	p.L321L	ALDH3A1_ENST00000395555.3_Intron|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Silent_p.L248L|ALDH3A1_ENST00000444455.1_Silent_p.L321L|ALDH3A1_ENST00000225740.6_Silent_p.L321L|ALDH3A1_ENST00000485231.1_5'Flank	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	321					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCACGTCCGTGAGGATGGTGG	0.642																																						uc010cqu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(961-963)CTC>CTT		aldehyde dehydrogenase 3A1	NADH(DB00157)	G	,,	0,4406		0,0,2203	35.0	35.0	35.0		963,963,963	-1.2	0.0	17	dbSNP_134	35	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	321/454,321/454,321/454	19642974	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19642974G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.963C>T	17.37:g.19642974G>A						ALDH3A1_uc010vzd.1_Silent_p.L321L|ALDH3A1_uc002gwj.2_Silent_p.L321L|ALDH3A1_uc010cqv.2_Silent_p.L320L|ALDH3A1_uc002gwk.2_Silent_p.L438L|ALDH3A1_uc002gwl.1_Silent_p.L248L	p.L321L	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1293	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		321					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.963C>T	CCDS11212.1																																																																																				0.642	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4		NM_000691		14	47	0	0	0	0.004007	0	14	47		
TMEM11	8834	broad.mit.edu	37	17	21102080	21102080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:21102080C>G	ENST00000317635.5	-	2	607	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	46					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						AGCTCGTACTCAAACTGGTCT	0.557																																						uc002gyp.2		NaN																	0					0						c.(136-138)GAG>CAG		transmembrane protein 11							66.0	53.0	58.0					17																	21102080		2203	4300	6503	SO:0001583	missense	8834				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding	g.chr17:21102080C>G	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 35"""	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.136G>C	17.37:g.21102080C>G	ENSP00000319992:p.Glu46Gln					TMEM11_uc002gyq.2_3'UTR	p.E46Q	NM_003876	NP_003867	P17152	TMM11_HUMAN			2	579	-			46					Q53YB2	Missense_Mutation	SNP	ENST00000317635.5	37	c.136G>C	CCDS11216.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835731	0.91117	.	.	ENSG00000178307	ENST00000317635	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77648	-0.2509	9	0.59425	D	0.04	-24.8035	20.0263	0.97523	0.0:1.0:0.0:0.0	.	46	P17152	TMM11_HUMAN	Q	46	.	ENSP00000319992:E46Q	E	-	1	0	TMEM11	21042672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.356000	0.79445	2.735000	0.93741	0.655000	0.94253	GAG		0.557	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444150.2		NM_003876		14	45	0	0	0	0.00245	0	14	45		
DHRS13	147015	broad.mit.edu	37	17	27228278	27228278	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27228278G>A	ENST00000378895.4	-	4	538	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Silent_p.L88L|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000426464.2_Silent_p.L57L	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	138						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCCGAAGCAGCAGGTTAAAC	0.602																																						uc002hde.3		NaN																	0					0						c.(412-414)CTG>TTG		dehydrogenase/reductase (SDR family) member 13							75.0	74.0	75.0					17																	27228278		2203	4300	6503	SO:0001819	synonymous_variant	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228278G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.412C>T	17.37:g.27228278G>A						DHRS13_uc002hdd.3_Silent_p.L88L|DHRS13_uc010wba.1_Silent_p.L57L	p.L138L	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	539	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		138					Q96BH7	Silent	SNP	ENST00000378895.4	37	c.412C>T	CCDS11246.2																																																																																				0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1		NM_144683		11	141	0	0	0	0.000978	0	11	141		
TAOK1	57551	broad.mit.edu	37	17	27861196	27861196	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:27861196G>A	ENST00000261716.3	+	19	2941	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	TAOK1_ENST00000536202.1_Missense_Mutation_p.E660K	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	808					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCTGCAGCAGGAACTGGAGCT	0.488																																						uc002hdz.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2422-2424)GAA>AAA		TAO kinase 1							82.0	72.0	76.0					17																	27861196		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27861196G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2422G>A	17.37:g.27861196G>A	ENSP00000261716:p.Glu808Lys					TAOK1_uc010wbe.1_Missense_Mutation_p.E660K|TAOK1_uc010wbf.1_Missense_Mutation_p.E808K	p.E808K	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		19	2616	+			808			Potential.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2422G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.928061	0.97110	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.76316	-1.01;1.08	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.86740	2.835	0.80722	D	1	P;D	0.71674	0.956;0.998	P;D	0.79784	0.899;0.993	D	0.91142	0.4946	10	0.87932	D	0	.	19.7543	0.96284	0.0:0.0:1.0:0.0	.	660;808	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	K	808;660	ENSP00000261716:E808K;ENSP00000438819:E660K	ENSP00000261716:E808K	E	+	1	0	TAOK1	24885322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.740000	0.93945	0.650000	0.86243	GAA		0.488	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1		NM_020791		58	43	0	0	0	0.00361	0	58	43		
EFCAB5	374786	broad.mit.edu	37	17	28380455	28380455	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:28380455G>A	ENST00000394835.3	+	10	1675	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.E495K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E439K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E495K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E495K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E152K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	495							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TAAACTTAACGAACAGAGAAC	0.388																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(1483-1485)GAA>AAA		EF-hand calcium binding domain 5 isoform a							124.0	124.0	124.0					17																	28380455		1943	4129	6072	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380455G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1483G>A	17.37:g.28380455G>A	ENSP00000378312:p.Glu495Lys					EFCAB5_uc010wbi.1_Missense_Mutation_p.E238K|EFCAB5_uc010wbj.1_Missense_Mutation_p.E439K|EFCAB5_uc010wbk.1_Missense_Mutation_p.E152K|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E374K|EFCAB5_uc010csf.2_Missense_Mutation_p.E374K	p.E495K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	1675	+			495					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1483G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126969	0.20959	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.43688	1.94;0.94;2.95;2.94;2.26;1.93;2.95	5.85	1.5	0.22942	.	0.797878	0.10882	N	0.623677	T	0.20210	0.0486	N	0.12182	0.205	0.09310	N	1	P;P;P;P;B;B	0.51351	0.907;0.944;0.855;0.58;0.374;0.374	B;B;B;B;B;B	0.35353	0.086;0.109;0.201;0.109;0.066;0.066	T	0.06734	-1.0810	10	0.38643	T	0.18	-4.9589	8.929	0.35659	0.2266:0.0:0.7734:0.0	.	439;439;495;495;495;495	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	K	439;238;152;495;495;495;495;439;301	ENSP00000440619:E439K;ENSP00000445575:E152K;ENSP00000378312:E495K;ENSP00000322003:E495K;ENSP00000378309:E495K;ENSP00000368012:E495K;ENSP00000417009:E301K	ENSP00000322003:E495K	E	+	1	0	EFCAB5	25404581	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.832000	0.04400	0.063000	0.16370	0.655000	0.94253	GAA		0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		33	216	0	0	0	0.002836	0	33	216		
NF1	4763	broad.mit.edu	37	17	29552264	29552264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:29552264C>G	ENST00000358273.4	+	17	2380	c.1997C>G	c.(1996-1998)tCt>tGt	p.S666C	NF1_ENST00000356175.3_Missense_Mutation_p.S666C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	666					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAACTCCTCTATGGTCAGC	0.373			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1996-1998)TCT>TGT		neurofibromin isoform 1							140.0	135.0	137.0					17																	29552264		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552264C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1997C>G	17.37:g.29552264C>G	ENSP00000351015:p.Ser666Cys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.S666C|NF1_uc010csn.1_Missense_Mutation_p.S526C|NF1_uc002hgi.1_5'UTR	p.S666C	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2330	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	666					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1997C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362531	0.41902	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09817	3.11;3.25;2.94	5.26	4.28	0.50868	Armadillo-type fold (1);	0.104145	0.43416	D	0.000578	T	0.07234	0.0183	N	0.19112	0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17167	-1.0378	10	0.48119	T	0.1	.	9.1126	0.36737	0.0:0.7757:0.145:0.0793	.	666;666;666	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	C	666;666;332	ENSP00000351015:S666C;ENSP00000348498:S666C;ENSP00000389907:S332C	ENSP00000348498:S666C	S	+	2	0	NF1	26576390	0.977000	0.34250	0.998000	0.56505	0.983000	0.72400	2.251000	0.43187	2.477000	0.83638	0.650000	0.86243	TCT		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		16	111	0	0	0	0.007413	0	16	111		
RHOT1	55288	broad.mit.edu	37	17	30519316	30519316	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:30519316C>G	ENST00000333942.6	+	9	876	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.Q213E|RHOT1_ENST00000394692.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000354266.3_Missense_Mutation_p.Q192E|RHOT1_ENST00000358365.3_Missense_Mutation_p.Q213E|RHOT1_ENST00000545287.2_Missense_Mutation_p.Q213E|RHOT1_ENST00000583994.1_Missense_Mutation_p.Q86E	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	213	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAACTTCTTTCAGGTAATGGT	0.303																																						uc002hgz.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(637-639)CAG>GAG		ras homolog gene family, member T1 isoform 3							84.0	83.0	83.0					17																	30519316		2202	4292	6494	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30519316C>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.637C>G	17.37:g.30519316C>G	ENSP00000334724:p.Gln213Glu					RHOT1_uc002hgw.2_Missense_Mutation_p.Q213E|RHOT1_uc002hgy.2_Missense_Mutation_p.Q213E|RHOT1_uc002hha.2_Missense_Mutation_p.Q86E|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.Q86E|RHOT1_uc010wby.1_Missense_Mutation_p.Q213E|RHOT1_uc002hhb.2_Missense_Mutation_p.Q192E|RHOT1_uc002hgv.2_Missense_Mutation_p.Q213E	p.Q213E	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			9	876	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	213			EF-hand 1.|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.637C>G	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861396	0.51482	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.62	5.62	0.85841	EF-hand-like domain (1);	0.118153	0.64402	D	0.000005	T	0.45776	0.1359	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;1.0	D;D;D;D	0.76575	0.938;0.973;0.966;0.988	T	0.57435	-0.7812	10	0.87932	D	0	-6.9369	19.6593	0.95859	0.0:1.0:0.0:0.0	.	213;213;213;213	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	E	213	ENSP00000351132:Q213E;ENSP00000378184:Q213E;ENSP00000334724:Q213E;ENSP00000439737:Q213E	ENSP00000334724:Q213E	Q	+	1	0	RHOT1	27543429	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.610000	0.82949	2.637000	0.89404	0.462000	0.41574	CAG		0.303	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1		NM_018307		13	59	0	0	0	0.001368	0	13	59		
PEX12	5193	broad.mit.edu	37	17	33903113	33903113	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:33903113G>C	ENST00000225873.4	-	3	1375	c.768C>G	c.(766-768)ttC>ttG	p.F256L	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	256					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGCAAGAAGAATACACCCA	0.468																																						uc002hjp.2		NaN																	0					0						c.(766-768)TTC>TTG		peroxisomal biogenesis factor 12							130.0	113.0	119.0					17																	33903113		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903113G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.768C>G	17.37:g.33903113G>C	ENSP00000225873:p.Phe256Leu						p.F256L	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1384	-			256			Helical; (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.768C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648078	0.67358	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84516	-1.86	5.04	3.03	0.35002	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89185	0.6643	M	0.80183	2.485	0.80722	D	1	D	0.59357	0.985	P	0.58928	0.848	D	0.86716	0.1939	10	0.38643	T	0.18	-11.5123	8.5063	0.33190	0.2388:0.0:0.7612:0.0	.	256	O00623	PEX12_HUMAN	L	256	ENSP00000225873:F256L	ENSP00000225873:F256L	F	-	3	2	PEX12	30927226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.763000	0.47605	0.695000	0.31675	0.655000	0.94253	TTC		0.468	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2		NM_000286		43	73	0	0	0	0.007835	0	43	73		
AP2B1	163	broad.mit.edu	37	17	34036247	34036247	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34036247C>T	ENST00000262325.7	+	18	2970	c.2417C>T	c.(2416-2418)gCt>gTt	p.A806V	AP2B1_ENST00000589344.1_Missense_Mutation_p.A820V|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.A820V|AP2B1_ENST00000312678.8_Missense_Mutation_p.A820V|AP2B1_ENST00000592545.1_Missense_Mutation_p.A782V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A749V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	806					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGCAGGTGGCTGTGAAAAAC	0.473																																						uc002hjr.2		NaN																	0				ovary(1)	1						c.(2416-2418)GCT>GTT		adaptor-related protein complex 2, beta 1							165.0	124.0	138.0					17																	34036247		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34036247C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2417C>T	17.37:g.34036247C>T	ENSP00000262325:p.Ala806Val					AP2B1_uc002hjq.2_Missense_Mutation_p.A820V|AP2B1_uc010wci.1_Missense_Mutation_p.A782V|AP2B1_uc002hjs.2_Missense_Mutation_p.A749V|AP2B1_uc002hjt.2_Missense_Mutation_p.A820V|AP2B1_uc010ctv.2_Missense_Mutation_p.A820V|AP2B1_uc010wcj.1_Missense_Mutation_p.A557V	p.A806V	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	18	2606	+		Ovarian(249;0.17)	806					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2417C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553748	0.96501	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.98	5.98	0.97165	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.986;0.973;0.976;0.933	D	0.89491	0.3757	10	0.87932	D	0	-6.701	19.4463	0.94849	0.0:1.0:0.0:0.0	.	557;782;806;820	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	V	806;820;749;820;557	ENSP00000262325:A806V;ENSP00000314414:A820V;ENSP00000440563:A749V;ENSP00000437413:A820V	ENSP00000262325:A806V	A	+	2	0	AP2B1	31060360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GCT		0.473	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1				12	67	0	0	0	0.000978	0	12	67		
GAS2L2	246176	broad.mit.edu	37	17	34073061	34073061	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34073061G>A	ENST00000254466.6	-	6	1482	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	GAS2L2_ENST00000587565.1_Silent_p.F469F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	485					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTCCCTGAACTGGAAGA	0.642																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(1453-1455)TTC>TTT		growth arrest-specific 2 like 2							107.0	109.0	108.0					17																	34073061		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073061G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1455C>T	17.37:g.34073061G>A							p.F485F	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1483	-		Ovarian(249;0.17)	485					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1455C>T	CCDS11298.1																																																																																				0.642	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		49	87	0	0	0	0.00361	0	49	87		
GAS2L2	246176	broad.mit.edu	37	17	34076186	34076186	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:34076186G>C	ENST00000254466.6	-	3	705	c.678C>G	c.(676-678)gtC>gtG	p.V226V	GAS2L2_ENST00000587565.1_Silent_p.V210V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	226	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGACACTTTGACCATGGAGA	0.592																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(676-678)GTC>GTG		growth arrest-specific 2 like 2							65.0	55.0	59.0					17																	34076186		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34076186G>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.678C>G	17.37:g.34076186G>C							p.V226V	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	706	-		Ovarian(249;0.17)	226			GAR.		Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.678C>G	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294716	0.23564	.	.	ENSG00000132139	ENST00000359507	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.71375	0.3332	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67059	-0.5766	5	0.31617	T	0.26	-27.1218	17.9261	0.88983	0.0:0.0:1.0:0.0	.	.	.	.	E	212	.	ENSP00000352493:Q212E	Q	-	1	0	GAS2L2	31100299	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.245000	0.43133	2.716000	0.92895	0.491000	0.48974	CAA		0.592	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		5	29	0	0	0	0.000602	0	5	29		
ACACA	31	broad.mit.edu	37	17	35631157	35631157	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:35631157G>C	ENST00000394406.2	-	9	1014	c.824C>G	c.(823-825)tCa>tGa	p.S275*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.S197*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.S217*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.S312*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	275	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GATACGTTTTGAAAAATCATT	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(823-825)TCA>TGA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						133.0	116.0	122.0					17																	35631157		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35631157G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.824C>G	17.37:g.35631157G>C	ENSP00000377928:p.Ser275*					ACACA_uc002hnk.2_Nonsense_Mutation_p.S197*|ACACA_uc002hnl.2_Nonsense_Mutation_p.S217*|ACACA_uc002hnn.2_Nonsense_Mutation_p.S275*|ACACA_uc002hno.2_Nonsense_Mutation_p.S312*|ACACA_uc010cuz.2_Nonsense_Mutation_p.S275*|ACACA_uc002hnq.2_Nonsense_Mutation_p.S197*	p.S275*	NM_198836	NP_942133	Q13085	ACACA_HUMAN			9	1015	-		Breast(25;0.00157)|Ovarian(249;0.15)	275			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.824C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	40	8.089724	0.98648	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	.	.	.	5.96	4.94	0.65067	.	0.533258	0.20044	N	0.100455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.2819	12.4345	0.55593	0.0:0.0:0.6808:0.3192	.	.	.	.	X	312;217;275;299;197;197	.	ENSP00000335323:S197X	S	-	2	0	ACACA	32705270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.098000	0.57748	2.831000	0.97527	0.650000	0.86243	TCA		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		17	61	0	0	0	0.008871	0	17	61		
SRCIN1	80725	broad.mit.edu	37	17	36715882	36715882	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:36715882C>T	ENST00000264659.7	-	10	2188	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.R689Q	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	527					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTGCAGGCCTCGCAGGTGAAG	0.736																																						uc002hqd.2		NaN																	0					0						c.(1963-1965)CGA>CAA		SNAP25-interacting protein							15.0	18.0	17.0					17																	36715882		1934	4123	6057	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36715882C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.1964G>A	17.37:g.36715882C>T	ENSP00000264659:p.Arg655Gln					SRCIN1_uc002hqf.1_Missense_Mutation_p.R527Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.R509Q|SRCIN1_uc002hqg.2_5'Flank	p.R655Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			10	2189	-			527			Potential.|Interaction with SNAP25 (By similarity).		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.1964G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961508	0.34565	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.47869	0.83	5.01	3.93	0.45458	.	0.204073	0.50627	D	0.000102	T	0.19967	0.0480	N	0.05124	-0.11	0.36582	D	0.873597	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.19257	-1.0311	10	0.15952	T	0.53	-1.0469	3.9103	0.09201	0.0:0.6555:0.0:0.3445	.	527;527;655	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	Q	655;436;509	ENSP00000264659:R655Q	ENSP00000264659:R655Q	R	-	2	0	SRCIN1	33969408	0.999000	0.42202	0.993000	0.49108	0.866000	0.49608	3.575000	0.53870	2.346000	0.79739	0.462000	0.41574	CGA		0.736	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4		NM_025248		8	25	0	0	0	0.004482	0	8	25		
TOP2A	7153	broad.mit.edu	37	17	38551779	38551779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38551779C>T	ENST00000423485.1	-	29	3891	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1245					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGGCTTCCTTCAGTATTTTCA	0.343																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3733-3735)GAA>AAA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						138.0	117.0	124.0					17																	38551779		1806	4073	5879	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38551779C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3733G>A	17.37:g.38551779C>T	ENSP00000411532:p.Glu1245Lys						p.E1245K	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		29	3859	-		Breast(137;0.00328)	1245					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.3733G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299621	0.60195	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22945	1.93	5.55	5.55	0.83447	.	0.378794	0.30519	N	0.009441	T	0.21881	0.0527	L	0.44542	1.39	0.39107	D	0.961396	B	0.09022	0.002	B	0.09377	0.004	T	0.07849	-1.0751	10	0.06757	T	0.87	.	17.0977	0.86639	0.0:1.0:0.0:0.0	.	1245	P11388	TOP2A_HUMAN	K	1245;1325;1268;1281	ENSP00000411532:E1245K	ENSP00000269577:E1325K	E	-	1	0	TOP2A	35805305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.381000	0.59587	2.902000	0.99343	0.650000	0.86243	GAA		0.343	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				7	45	0	0	0	0.004482	0	7	45		
CCR7	1236	broad.mit.edu	37	17	38711414	38711414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38711414C>T	ENST00000246657.2	-	3	779	c.717G>A	c.(715-717)atG>atA	p.M239I	CCR7_ENST00000579344.1_Missense_Mutation_p.M233I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	239					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AACAGAAGCTCATGGCCAGCA	0.557																																						uc002huw.2		NaN																	0				breast(1)	1						c.(715-717)ATG>ATA		chemokine (C-C motif) receptor 7 precursor							115.0	101.0	106.0					17																	38711414		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711414C>T		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.717G>A	17.37:g.38711414C>T	ENSP00000246657:p.Met239Ile						p.M239I	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	780	-		Breast(137;0.000496)	239			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000246657.2	37	c.717G>A	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331669	0.81690	.	.	ENSG00000126353	ENST00000246657	T	0.31510	1.49	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	L	0.33792	1.035	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.41431	-0.9509	10	0.87932	D	0	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	239	P32248	CCR7_HUMAN	I	239	ENSP00000246657:M239I	ENSP00000246657:M239I	M	-	3	0	CCR7	35964940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.999000	0.70665	2.768000	0.95171	0.561000	0.74099	ATG		0.557	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1				11	47	0	0	0	0.008291	0	11	47		
KRT10	3858	broad.mit.edu	37	17	38978738	38978738	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:38978738G>A	ENST00000269576.5	-	1	109	c.100C>T	c.(100-102)Cta>Tta	p.L34L	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	34	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GAAATTCTTAGGGATGACAct	0.562																																						uc002hvi.2		NaN																	0					0						c.(100-102)CTA>TTA		keratin 10							63.0	59.0	61.0					17																	38978738		2203	4300	6503	SO:0001819	synonymous_variant	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978738G>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.100C>T	17.37:g.38978738G>A						KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.L34L	NM_000421	NP_000412	P13645	K1C10_HUMAN			1	126	-		Breast(137;0.000301)	34			Head.|Gly-rich.		Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	c.100C>T	CCDS11377.1																																																																																				0.562	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1		NM_000421		18	48	0	0	0	0.00499	0	18	48		
KRT12	3859	broad.mit.edu	37	17	39022938	39022938	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39022938C>T	ENST00000251643.4	-	1	524	c.501G>A	c.(499-501)ggG>ggA	p.G167G		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	167	Linker 1.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CATCTGCAGTCCCAGTTCCTC	0.413																																						uc002hvk.2		NaN																	0				ovary(1)	1						c.(499-501)GGG>GGA		keratin 12							128.0	128.0	128.0					17																	39022938		2203	4300	6503	SO:0001819	synonymous_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39022938C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.501G>A	17.37:g.39022938C>T							p.G167G	NM_000223	NP_000214	Q99456	K1C12_HUMAN			1	525	-		Breast(137;0.000301)	167			Rod.|Linker 1.		B2R9E0	Silent	SNP	ENST00000251643.4	37	c.501G>A	CCDS11378.1																																																																																				0.413	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223		46	146	0	0	0	0.003214	0	46	146		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G	rs374377149		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39240819C>G	ENST00000391417.4	+	1	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	176	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgctgcCTGCGTCCAGT	0.657																																						uc010wfn.1		NaN																	0					0						c.(361-363)CTG>GTG		keratin associated protein 4-7							26.0	26.0	26.0					17																	39240819		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240819C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.361C>G	17.37:g.39240819C>G	ENSP00000375236:p.Leu121Val						p.L121V	NM_033061	NP_149050					1	361	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.361C>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.902	-0.722098	0.03182	.	.	ENSG00000240871	ENST00000391417	T	0.00587	6.38	3.27	1.03	0.20045	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.41484	-0.9506	8	0.18710	T	0.47	.	2.4062	0.04414	0.1899:0.5061:0.186:0.118	.	176	Q9BYR0	KRA47_HUMAN	V	121	ENSP00000375236:L121V	ENSP00000375236:L121V	L	+	1	2	KRTAP4-7	36494345	0.356000	0.24930	0.829000	0.32907	0.752000	0.42762	-0.391000	0.07323	0.126000	0.18424	0.305000	0.20034	CTG		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1				3	3	0	0	0	0.000248	0	3	3		
KRT37	8688	broad.mit.edu	37	17	39580734	39580734	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580734G>A	ENST00000225550.3	-	1	41	c.42C>T	c.(40-42)tgC>tgT	p.C14C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	14	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GAGCCATGGTGCAACCCAGAG	0.577																																						uc002hwp.1		NaN																	0				skin(1)	1						c.(40-42)TGC>TGT		keratin 37							68.0	71.0	70.0					17																	39580734		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580734G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.42C>T	17.37:g.39580734G>A						uc002hwo.1_RNA	p.C14C	NM_003770	NP_003761	O76014	KRT37_HUMAN			1	89	-		Breast(137;0.000496)	14			Head.			Silent	SNP	ENST00000225550.3	37	c.42C>T	CCDS32653.1																																																																																				0.577	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2		NM_003770		30	101	0	0	0	0.002445	0	30	101		
KRT37	8688	broad.mit.edu	37	17	39580750	39580750	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:39580750G>A	ENST00000225550.3	-	1	25	c.26C>T	c.(25-27)tCa>tTa	p.S9L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	9	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAGGGCATGAGGAGGTGCT	0.577																																						uc002hwp.1		NaN																	0				skin(1)	1						c.(25-27)TCA>TTA		keratin 37							64.0	68.0	67.0					17																	39580750		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580750G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.26C>T	17.37:g.39580750G>A	ENSP00000225550:p.Ser9Leu					uc002hwo.1_RNA	p.S9L	NM_003770	NP_003761	O76014	KRT37_HUMAN			1	73	-		Breast(137;0.000496)	9			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.26C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.752969	0.31046	.	.	ENSG00000108417	ENST00000225550	D	0.84442	-1.85	4.0	0.632	0.17705	.	0.644866	0.13653	N	0.372172	T	0.74351	0.3705	L	0.34521	1.04	0.09310	N	1	B	0.26935	0.164	B	0.19946	0.027	T	0.60378	-0.7275	10	0.41790	T	0.15	.	7.992	0.30246	0.0876:0.3053:0.607:0.0	.	9	O76014	KRT37_HUMAN	L	9	ENSP00000225550:S9L	ENSP00000225550:S9L	S	-	2	0	KRT37	36834276	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.701000	0.25616	-0.034000	0.13713	0.655000	0.94253	TCA		0.577	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2		NM_003770		28	94	0	0	0	0.002096	0	28	94		
ACLY	47	broad.mit.edu	37	17	40025364	40025364	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40025364G>C	ENST00000352035.2	-	27	3196	c.3066C>G	c.(3064-3066)atC>atG	p.I1022M	ACLY_ENST00000353196.1_Missense_Mutation_p.I1012M|ACLY_ENST00000590151.1_Missense_Mutation_p.I1022M|ACLY_ENST00000393896.2_Missense_Mutation_p.I1012M|ACLY_ENST00000537919.1_Missense_Mutation_p.I751M|ACLY_ENST00000588779.1_5'UTR	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1022					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTACATTCAGGATAAGATTTG	0.363																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3064-3066)ATC>ATG		ATP citrate lyase isoform 1							154.0	154.0	154.0					17																	40025364		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40025364G>C	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3066C>G	17.37:g.40025364G>C	ENSP00000253792:p.Ile1022Met					ACLY_uc002hyh.2_Missense_Mutation_p.I1012M|ACLY_uc002hyi.2_Missense_Mutation_p.I1076M|ACLY_uc010wfx.1_Missense_Mutation_p.I1066M|ACLY_uc010wfy.1_Missense_Mutation_p.I751M	p.I1022M	NM_001096	NP_001087	P53396	ACLY_HUMAN			27	3229	-		Breast(137;0.000143)	1022					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.3066C>G	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	g	18.25	3.581782	0.65992	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89810	-1.6;-1.6;-2.57;-1.6	6.05	5.08	0.68730	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.998;0.999;0.999;1.0;0.998	D	0.95729	0.8773	10	0.87932	D	0	.	12.1289	0.53932	0.0655:0.1209:0.8135:0.0	.	751;1066;1076;1012;1022	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	M	1022;1076;1012;751;1012	ENSP00000253792:I1022M;ENSP00000345398:I1012M;ENSP00000445349:I751M;ENSP00000377474:I1012M	ENSP00000253792:I1022M	I	-	3	3	ACLY	37278890	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.612000	0.46343	1.573000	0.49748	0.651000	0.88453	ATC		0.363	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		13	294	0	0	0	0.00245	0	13	294		
TTC25	83538	broad.mit.edu	37	17	40095357	40095357	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40095357G>C	ENST00000591658.1	+	0	1058							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.Q330Q(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGAATGCCCAGATTGAGCTGG	0.537																																						uc002hyj.3		NaN																	1	Substitution - coding silent(1)	p.Q330Q(1)	ovary(1)	ovary(1)	1						c.(988-990)CAG>CAC		tetratricopeptide repeat domain 25							48.0	51.0	50.0					17																	40095357		2065	4201	6266			83538					cytoplasm	protein binding	g.chr17:40095357G>C	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095357G>C						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	p.Q330H	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			7	1079	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	330			TPR 5.		Q6NX40|Q6PJ04|Q9H0K5	Missense_Mutation	SNP	ENST00000591658.1	37	c.990G>C																																																																																					0.537	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1		NM_031421		9	35	0	0	0	0.004482	0	9	35		
PLEKHH3	79990	broad.mit.edu	37	17	40820225	40820225	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:40820225C>A	ENST00000591022.1	-	13	2689	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.D591Y|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.D765Y	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	768					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGGGAGGTGTCTGGCAGGTCT	0.647																																						uc002iau.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2302-2304)GAC>TAC		pleckstrin homology domain containing, family H							24.0	29.0	27.0					17																	40820225		2202	4300	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40820225C>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2302G>T	17.37:g.40820225C>A	ENSP00000468678:p.Asp768Tyr					PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.D129Y|PLEKHH3_uc002iaw.2_3'UTR	p.D768Y	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	13	2769	-		Breast(137;0.00116)	768					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.2302G>T	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748599	0.49257	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	D	0.90444	-2.67	4.61	3.64	0.41730	.	0.600761	0.14949	N	0.289044	T	0.79592	0.4472	N	0.08118	0	0.26014	N	0.981955	P	0.39576	0.679	B	0.38500	0.275	T	0.72701	-0.4214	10	0.59425	D	0.04	-8.9392	7.9262	0.29876	0.0:0.8908:0.0:0.1092	.	768	Q7Z736	PKHH3_HUMAN	Y	768;591	ENSP00000411885:D591Y	ENSP00000293349:D768Y	D	-	1	0	PLEKHH3	38073751	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.181000	0.42547	2.564000	0.86499	0.555000	0.69702	GAC		0.647	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1		NM_024927		22	41	1	0	1.10923e-09	0.00278	1.36521e-09	22	41		
MPP3	4356	broad.mit.edu	37	17	41879119	41879119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:41879119C>G	ENST00000398389.4	-	20	1873	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	MPP3_ENST00000398393.1_Missense_Mutation_p.E595Q	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	570	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.E570Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCAGCTTCTCTAAGACCACT	0.537																																						uc002iei.3		NaN																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1708-1710)GAG>CAG		palmitoylated membrane protein 3							116.0	112.0	113.0					17																	41879119		1953	4145	6098	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879119C>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1708G>C	17.37:g.41879119C>G	ENSP00000381425:p.Glu570Gln					MPP3_uc002ieh.2_Missense_Mutation_p.E595Q|MPP3_uc002iej.2_RNA	p.E570Q	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	20	1874	-		Breast(137;0.00394)	570			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1708G>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624735	0.46840	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.47869	0.83;0.83	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.157852	0.56097	D	0.000029	T	0.49338	0.1551	L	0.53249	1.67	0.54753	D	0.999987	B;B	0.32382	0.368;0.368	B;B	0.42386	0.299;0.386	T	0.30621	-0.9972	10	0.07990	T	0.79	.	16.2504	0.82481	0.0:1.0:0.0:0.0	.	570;595	Q13368;D3DX46	MPP3_HUMAN;.	Q	595;570	ENSP00000381430:E595Q;ENSP00000381425:E570Q	ENSP00000381425:E570Q	E	-	1	0	MPP3	39234645	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	6.708000	0.74660	2.826000	0.97356	0.563000	0.77884	GAG		0.537	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1		NM_001932		46	99	0	0	0	0.00361	0	46	99		
GFAP	2670	broad.mit.edu	37	17	42987985	42987985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:42987985C>G	ENST00000253408.5	-	7	1234	c.1169G>C	c.(1168-1170)cGa>cCa	p.R390P	GFAP_ENST00000435360.2_Missense_Mutation_p.R390P|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.R390P	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	390	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTACTGACCTCGAATCTGCAG	0.622																																						uc002ihq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1168-1170)CGA>CCA		glial fibrillary acidic protein isoform 1							60.0	49.0	53.0					17																	42987985		2202	4299	6501	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987985C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1169G>C	17.37:g.42987985C>G	ENSP00000253408:p.Arg390Pro					GFAP_uc002ihr.2_Missense_Mutation_p.R390P	p.R390P	NM_002055	NP_002046	P14136	GFAP_HUMAN			7	1229	-		Prostate(33;0.0959)	390			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1169G>C	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956638	0.92726	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.85258	-1.96;-1.91	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	D	0.93044	0.7786	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.971	D	0.93625	0.6951	10	0.72032	D	0.01	.	18.8562	0.92254	0.0:1.0:0.0:0.0	.	390;390	E9PAX3;P14136	.;GFAP_HUMAN	P	390;365;390	ENSP00000253408:R390P;ENSP00000403962:R390P	ENSP00000253408:R390P	R	-	2	0	GFAP	40343511	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.224000	0.78042	2.679000	0.91253	0.650000	0.86243	CGA		0.622	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1		NM_002055		4	3	0	0	0	0.000248	0	4	3		
C1QL1	10882	broad.mit.edu	37	17	43037561	43037561	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:43037561C>A	ENST00000253407.3	-	2	794	c.772G>T	c.(772-774)Gac>Tac	p.D258Y		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	258	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				GGAGCTCAGTCGGAGTAGATG	0.657																																						uc002ihv.2		NaN																	0					0						c.(772-774)GAC>TAC		complement component 1, q subcomponent-like 1							278.0	230.0	246.0					17																	43037561		2203	4300	6503	SO:0001583	missense	10882				locomotory behavior	collagen		g.chr17:43037561C>A	AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.772G>T	17.37:g.43037561C>A	ENSP00000253407:p.Asp258Tyr						p.D258Y	NM_006688	NP_006679	O75973	C1QRF_HUMAN			2	1000	-		Prostate(33;0.155)	258			C1q.			Missense_Mutation	SNP	ENST00000253407.3	37	c.772G>T	CCDS11492.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610621	0.87258	.	.	ENSG00000131094	ENST00000253407	D	0.96587	-4.06	4.4	4.4	0.53042	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99301	1.0901	10	0.87932	D	0	.	15.8955	0.79329	0.0:1.0:0.0:0.0	.	258	O75973	C1QRF_HUMAN	Y	258	ENSP00000253407:D258Y	ENSP00000253407:D258Y	D	-	1	0	C1QL1	40393087	1.000000	0.71417	0.965000	0.40720	0.964000	0.63967	7.261000	0.78400	2.279000	0.76181	0.555000	0.69702	GAC		0.657	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371119.3		NM_006688		44	122	1	0	9.39024e-22	0.002222	1.19346e-21	44	122		
MAPT	4137	broad.mit.edu	37	17	44061213	44061213	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44061213A>T	ENST00000571987.1	+	5	1043	c.1043A>T	c.(1042-1044)gAg>gTg	p.E348V	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E348V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E348V|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.E348V|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	348					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GACACAAAAGAGGCTGACCTT	0.637																																						uc002ijr.3		NaN																	0				pancreas(1)	1						c.(1042-1044)GAG>GTG		microtubule-associated protein tau isoform 1							42.0	53.0	49.0					17																	44061213		2150	4227	6377	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44061213A>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1043A>T	17.37:g.44061213A>T	ENSP00000458742:p.Glu348Val					MAPT_uc010dau.2_Missense_Mutation_p.E348V|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.E348V	NM_016835	NP_058519	P10636	TAU_HUMAN			6	1363	+		Melanoma(429;0.216)	348					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.1043A>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	5.812	0.334043	0.11013	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10960	2.82;2.83;2.82	4.12	3.05	0.35203	.	0.346122	0.21111	N	0.079988	T	0.08044	0.0201	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.26547	0.152;0.003	B;B	0.27500	0.08;0.001	T	0.27123	-1.0083	10	0.38643	T	0.18	-5.9992	6.362	0.21433	0.8891:0.0:0.1109:0.0	.	348;348	P10636-9;P10636	.;TAU_HUMAN	V	348	ENSP00000340820:E348V;ENSP00000262410:E348V;ENSP00000410838:E348V	ENSP00000262410:E348V	E	+	2	0	MAPT	41417050	0.034000	0.19679	0.029000	0.17559	0.265000	0.26407	2.015000	0.40961	0.937000	0.37394	0.418000	0.28097	GAG		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1		NM_016835		27	98	0	0	0	0.005443	0	27	98		
STH	246744	broad.mit.edu	37	17	44076776	44076776	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44076776G>C	ENST00000537309.1	+	1	161	c.131G>C	c.(130-132)aGa>aCa	p.R44T	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	44						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGGTTGCCAGAGACAGAACC	0.527																																						uc002ijy.2		NaN																	0					0						c.(130-132)AGA>ACA		saitohin							119.0	118.0	119.0					17																	44076776		1966	4148	6114	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076776G>C	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.131G>C	17.37:g.44076776G>C	ENSP00000443168:p.Arg44Thr					MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.R44T	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN			1	161	+			44					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.131G>C	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353003	0.11182	.	.	ENSG00000256762	ENST00000537309	T	0.55930	0.49	1.77	-0.533	0.11887	.	.	.	.	.	T	0.24392	0.0591	N	0.08118	0	0.09310	N	1	B	0.31193	0.312	B	0.21708	0.036	T	0.15350	-1.0440	9	0.87932	D	0	.	2.2075	0.03939	0.198:0.0:0.4997:0.3023	.	44	Q8IWL8	STH_HUMAN	T	44	ENSP00000443168:R44T	ENSP00000443168:R44T	R	+	2	0	STH	41432613	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.580000	0.05827	-0.111000	0.12001	0.561000	0.74099	AGA		0.527	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1				12	48	0	0	0	0.001368	0	12	48		
KANSL1	284058	broad.mit.edu	37	17	44144094	44144094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:44144094G>A	ENST00000262419.6	-	6	2127	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.Q553*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.Q553*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	553					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAGACAGGCTGAAGACTATAC	0.398																																						uc002ikb.2		NaN																	0				skin(2)	2						c.(1657-1659)CAG>TAG		hypothetical protein LOC284058							73.0	62.0	66.0					17																	44144094		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44144094G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1657C>T	17.37:g.44144094G>A	ENSP00000262419:p.Gln553*					KIAA1267_uc002ikc.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.Q553*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.Q553*	p.Q553*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			5	1742	-		Melanoma(429;0.211)	553					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.1657C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	37	6.562804	0.97667	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	4.93	4.93	0.64822	.	0.462180	0.22801	N	0.055461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-2.5336	14.867	0.70425	0.0:0.0:1.0:0.0	.	.	.	.	X	553	.	ENSP00000262419:Q553X	Q	-	1	0	KIAA1267	41499916	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.678000	0.74508	2.258000	0.74832	0.555000	0.69702	CAG		0.398	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443		12	35	0	0	0	0.001368	0	12	35		
PNPO	55163	broad.mit.edu	37	17	46023278	46023278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:46023278T>C	ENST00000225573.4	+	5	574	c.469T>C	c.(469-471)Tac>Cac	p.Y157H	PNPO_ENST00000534893.1_Missense_Mutation_p.Y62H|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000434554.2_Intron|PNPO_ENST00000544840.1_Missense_Mutation_p.Y139H	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	157					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GGCTGAGTGCTACTTCCACTC	0.597																																						uc002imo.2		NaN																	0					0						c.(469-471)TAC>CAC		pyridoxine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						73.0	69.0	70.0					17																	46023278		2203	4300	6503	SO:0001583	missense	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46023278T>C	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.469T>C	17.37:g.46023278T>C	ENSP00000225573:p.Tyr157His					PNPO_uc010wkz.1_Missense_Mutation_p.Y139H|PNPO_uc010wla.1_Missense_Mutation_p.Y62H|PNPO_uc010wlb.1_Intron	p.Y157H	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN			5	622	+			157				Substrate.	B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	37	c.469T>C	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991258	0.54041	.	.	ENSG00000108439	ENST00000225573;ENST00000544840;ENST00000534893	T;T;T	0.78595	-1.19;-1.19;-1.19	5.78	5.78	0.91487	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95625	0.8684	10	0.87932	D	0	-3.7666	15.0721	0.72046	0.0:0.0:0.0:1.0	.	139;157	B4E1D7;Q9NVS9	.;PNPO_HUMAN	H	157;139;62	ENSP00000225573:Y157H;ENSP00000446182:Y139H;ENSP00000437480:Y62H	ENSP00000225573:Y157H	Y	+	1	0	PNPO	43378277	1.000000	0.71417	0.983000	0.44433	0.936000	0.57629	7.775000	0.85489	2.202000	0.70862	0.533000	0.62120	TAC		0.597	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1		NM_018129		19	42	0	0	0	0.006122	0	19	42		
CACNA1G	8913	broad.mit.edu	37	17	48669297	48669297	+	Splice_Site	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48669297G>T	ENST00000359106.5	+	13	2754		c.e13-1		CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000429973.2_Splice_Site|CACNA1G_ENST00000507896.1_Splice_Site|CACNA1G_ENST00000416767.4_Splice_Site|CACNA1G_ENST00000515411.1_Splice_Site|CACNA1G_ENST00000514717.1_Splice_Site|CACNA1G_ENST00000507510.2_Splice_Site|CACNA1G_ENST00000514079.1_Splice_Site|CACNA1G_ENST00000354983.4_Splice_Site|CACNA1G_ENST00000512389.1_Splice_Site|CACNA1G_ENST00000507609.1_Splice_Site|CACNA1G_ENST00000510366.1_Splice_Site|CACNA1G_ENST00000515765.1_Splice_Site|CACNA1G_ENST00000515165.1_Splice_Site|CACNA1G_ENST00000360761.4_Splice_Site|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000352832.5_Splice_Site|CACNA1G_ENST00000513964.1_Splice_Site|CACNA1G_ENST00000514181.1_Splice_Site|CACNA1G_ENST00000358244.5_Splice_Site|CACNA1G_ENST00000442258.2_Splice_Site|CACNA1G_ENST00000503485.1_Splice_Site|CACNA1G_ENST00000513689.2_Splice_Site|CACNA1G_ENST00000505165.1_Splice_Site|CACNA1G_ENST00000510115.1_Splice_Site	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGCCCGCAGATCCTGACCC	0.582																																						uc002irk.1		NaN																	0				breast(1)	1						c.e13-1		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						58.0	64.0	62.0					17																	48669297		1958	4134	6092	SO:0001630	splice_region_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48669297G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2755-1G>T	17.37:g.48669297G>T						CACNA1G_uc002iri.1_Splice_Site_p.I919_splice|CACNA1G_uc002irj.1_Splice_Site_p.I919_splice|CACNA1G_uc002irl.1_Splice_Site_p.I919_splice|CACNA1G_uc002irm.1_Splice_Site_p.I919_splice|CACNA1G_uc002irn.1_Splice_Site_p.I919_splice|CACNA1G_uc002iro.1_Splice_Site_p.I919_splice|CACNA1G_uc002irp.1_Splice_Site_p.I919_splice|CACNA1G_uc002irq.1_Splice_Site_p.I919_splice|CACNA1G_uc002irr.1_Splice_Site_p.I919_splice|CACNA1G_uc002irs.1_Splice_Site_p.I919_splice|CACNA1G_uc002irt.1_Splice_Site_p.I919_splice|CACNA1G_uc002irv.1_Splice_Site_p.I919_splice|CACNA1G_uc002irw.1_Splice_Site_p.I919_splice|CACNA1G_uc002iru.1_Splice_Site_p.I919_splice|CACNA1G_uc002irx.1_Splice_Site_p.I832_splice|CACNA1G_uc002iry.1_Splice_Site_p.I832_splice|CACNA1G_uc002irz.1_Splice_Site_p.I832_splice|CACNA1G_uc002isa.1_Splice_Site_p.I832_splice|CACNA1G_uc002isb.1_Splice_Site_p.I832_splice|CACNA1G_uc002isc.1_Splice_Site_p.I832_splice|CACNA1G_uc002isd.1_Splice_Site_p.I832_splice|CACNA1G_uc002ise.1_Splice_Site_p.I832_splice|CACNA1G_uc002isf.1_Splice_Site_p.I832_splice|CACNA1G_uc002isg.1_Splice_Site_p.I832_splice|CACNA1G_uc002ish.1_Splice_Site_p.I832_splice|CACNA1G_uc002isi.1_Splice_Site_p.I832_splice	p.I919_splice	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		13	3127	+	Breast(11;6.7e-17)							D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Splice_Site	SNP	ENST00000359106.5	37	c.2755_splice	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317579	0.60524	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2728	0.90073	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1G	46024296	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.869000	0.99810	2.334000	0.79466	0.462000	0.41574	.		0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	Intron	15	12	1	0	6.31663e-08	0.003163	7.68238e-08	15	12		
CACNA1G	8913	broad.mit.edu	37	17	48678510	48678510	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:48678510G>A	ENST00000359106.5	+	19	3890	c.3890G>A	c.(3889-3891)cGc>cAc	p.R1297H	CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1274H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1274H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1274H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1274H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1274H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1297H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1297H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1274H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1297					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCATGGAGCGCCCCAAAATT	0.592																																						uc002irk.1		NaN																	0				breast(1)	1						c.(3889-3891)CGC>CAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						75.0	75.0	75.0					17																	48678510		2096	4210	6306	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678510G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3890G>A	17.37:g.48678510G>A	ENSP00000352011:p.Arg1297His					CACNA1G_uc002iri.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irj.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irl.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irm.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irn.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iro.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irp.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irq.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irr.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irs.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irt.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irv.1_Missense_Mutation_p.R1297H|CACNA1G_uc002irw.1_Missense_Mutation_p.R1274H|CACNA1G_uc002iru.1_Missense_Mutation_p.R1274H|CACNA1G_uc002irx.1_Missense_Mutation_p.R1210H|CACNA1G_uc002iry.1_Missense_Mutation_p.R1210H|CACNA1G_uc002irz.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isa.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isb.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isc.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isd.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ise.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isf.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isg.1_Missense_Mutation_p.R1210H|CACNA1G_uc002ish.1_Missense_Mutation_p.R1210H|CACNA1G_uc002isi.1_Missense_Mutation_p.R1187H|CACNA1G_uc002isj.2_Missense_Mutation_p.R21H	p.R1297H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		19	4262	+	Breast(11;6.7e-17)		1297			Extracellular (Potential).|III.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3890G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	33	5.259321	0.95368	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97279	-4.18;-4.18;-4.3;-4.14;-4.17;-4.17;-4.19;-4.27;-4.26;-4.25;-4.26;-4.13;-4.14;-4.21;-4.15;-4.12;-4.19;-4.14;-4.13;-4.19;-4.18;-4.14;-4.19;-4.13;-4.18;-4.19;-4.32	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;1.0;1.0;0.998;1.0;0.945;1.0;1.0;1.0;0.996;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.99;0.972;0.999;0.997;0.994;0.999;0.996;0.992;0.999;0.994;0.999;0.999;0.954;0.957;0.999;0.997;0.932;0.995;0.719;0.999;0.999;0.992;0.936;0.999;0.999;0.949;0.998	D	0.99525	1.0959	10	0.66056	D	0.02	.	18.335	0.90285	0.0:0.0:1.0:0.0	.	327;1274;1297;1297;1297;1297;1297;1297;1297;1297;1297;1297;1274;1297;1297;1297;1297;1297;1274;1297;1274;1274;1274;1274;1297;1274;1297	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	1274;1274;1297;1274;1274;1274;1297;1297;1274;1297;1297;1297;1297;1297;1297;1274;1297;1297;1297;1297;1274;1297;1297;1297;1297;1297;112	ENSP00000353990:R1274H;ENSP00000339302:R1274H;ENSP00000392390:R1297H;ENSP00000347078:R1274H;ENSP00000409759:R1274H;ENSP00000425522:R1274H;ENSP00000426261:R1297H;ENSP00000425451:R1297H;ENSP00000422407:R1274H;ENSP00000426814:R1297H;ENSP00000427238:R1297H;ENSP00000423112:R1297H;ENSP00000420918:R1297H;ENSP00000426172:R1297H;ENSP00000423045:R1297H;ENSP00000427173:R1274H;ENSP00000426098:R1297H;ENSP00000425698:R1297H;ENSP00000426232:R1297H;ENSP00000423317:R1297H;ENSP00000350979:R1274H;ENSP00000352011:R1297H;ENSP00000414388:R1297H;ENSP00000423155:R1297H;ENSP00000422268:R1297H;ENSP00000421518:R1297H;ENSP00000427697:R112H	ENSP00000339302:R1274H	R	+	2	0	CACNA1G	46033509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.866000	0.99616	2.409000	0.81822	0.655000	0.94253	CGC		0.592	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		31	35	0	0	0	0.007291	0	31	35		
C17orf67	339210	broad.mit.edu	37	17	54893199	54893199	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:54893199G>A	ENST00000575658.1	-	5	1251	c.45C>T	c.(43-45)ctC>ctT	p.L15L	C17orf67_ENST00000397862.2_Silent_p.L15L|C17orf67_ENST00000397861.2_5'UTR	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	15						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GCCTCTTGCTGAGTGAATCCT	0.517																																						uc010dci.2		NaN																	0					0						c.(43-45)CTC>CTT		hypothetical protein LOC339210 precursor							87.0	92.0	90.0					17																	54893199		2142	4243	6385	SO:0001819	synonymous_variant	339210					extracellular region		g.chr17:54893199G>A	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.45C>T	17.37:g.54893199G>A						C17orf67_uc002iuq.2_RNA	p.L15L	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN			1	52	-	Breast(9;2.49e-06)		15						Silent	SNP	ENST00000575658.1	37	c.45C>T																																																																																					0.517	C17orf67-202	KNOWN	basic	protein_coding	protein_coding			NM_001085430		10	81	0	0	0	0.006214	0	10	81		
CLTC	1213	broad.mit.edu	37	17	57743597	57743597	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57743597C>G	ENST00000269122.3	+	11	2052	c.1778C>G	c.(1777-1779)cCt>cGt	p.P593R	CLTC_ENST00000393043.1_Missense_Mutation_p.P593R|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	593	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCATGCGCCTCAAGTATGT	0.433			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1		NaN		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(1777-1779)CCT>CGT		clathrin heavy chain 1							139.0	126.0	130.0					17																	57743597		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57743597C>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1778C>G	17.37:g.57743597C>G	ENSP00000269122:p.Pro593Arg					CLTC_uc002ixp.2_Missense_Mutation_p.P593R|CLTC_uc002ixr.1_Missense_Mutation_p.P597R	p.P593R	NM_004859	NP_004850	Q00610	CLH1_HUMAN			11	2221	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		593			Heavy chain arm.|Distal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1778C>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071805	0.93950	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	H	0.94345	3.525	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.982	T	0.72537	-0.4263	10	0.87932	D	0	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	593;593	Q00610;Q00610-2	CLH1_HUMAN;.	R	593	ENSP00000269122:P593R;ENSP00000376763:P593R	ENSP00000269122:P593R	P	+	2	0	CLTC	55098379	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.714000	0.92807	0.585000	0.79938	CCT		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859		10	100	0	0	0	0.000978	0	10	100		
CLTC	1213	broad.mit.edu	37	17	57754433	57754433	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:57754433C>G	ENST00000269122.3	+	17	2954	c.2680C>G	c.(2680-2682)Ctt>Gtt	p.L894V	CLTC_ENST00000579815.1_3'UTR|CLTC_ENST00000393043.1_Missense_Mutation_p.L894V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	894	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGAGATTTCTTCGTGAAAA	0.458			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1		NaN		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(2680-2682)CTT>GTT		clathrin heavy chain 1							96.0	99.0	98.0					17																	57754433		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57754433C>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2680C>G	17.37:g.57754433C>G	ENSP00000269122:p.Leu894Val					CLTC_uc002ixp.2_Missense_Mutation_p.L894V|CLTC_uc002ixr.1_Missense_Mutation_p.L898V	p.L894V	NM_004859	NP_004850	Q00610	CLH1_HUMAN			17	3123	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		894			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2680C>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514433	0.85389	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.35605	1.3;1.3	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	T	0.76841	-0.2810	10	0.62326	D	0.03	.	14.5576	0.68113	0.0:0.9276:0.0:0.0724	.	894;894	Q00610;Q00610-2	CLH1_HUMAN;.	V	894	ENSP00000269122:L894V;ENSP00000376763:L894V	ENSP00000269122:L894V	L	+	1	0	CLTC	55109215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.569000	0.86673	0.557000	0.71058	CTT		0.458	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859		43	58	0	0	0	0.002222	0	43	58		
MED13	9969	broad.mit.edu	37	17	60108955	60108955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60108955G>A	ENST00000397786.2	-	6	935	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	287					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGACTGAGGGACTAGA	0.468																																						uc002izo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(859-861)CAG>TAG		mediator complex subunit 13							91.0	89.0	90.0					17																	60108955		2003	4173	6176	SO:0001587	stop_gained	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60108955G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.859C>T	17.37:g.60108955G>A	ENSP00000380888:p.Gln287*					MED13_uc002izp.2_5'Flank	p.Q287*	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			6	936	-			287					B2RU05|O60334	Nonsense_Mutation	SNP	ENST00000397786.2	37	c.859C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	37	6.239655	0.97403	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.5858	17.5695	0.87931	0.0:0.0:1.0:0.0	.	.	.	.	X	287;286	.	ENSP00000262436:Q286X	Q	-	1	0	MED13	57463737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.600000	0.87896	0.491000	0.48974	CAG		0.468	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		11	51	0	0	0	0.000978	0	11	51		
MRC2	9902	broad.mit.edu	37	17	60743976	60743976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60743976C>G	ENST00000303375.5	+	4	1257	c.855C>G	c.(853-855)atC>atG	p.I285M		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	285	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGACCTACATCAACGGTGAGC	0.677																																						uc002jad.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(853-855)ATC>ATG		mannose receptor, C type 2							39.0	32.0	34.0					17																	60743976		2203	4297	6500	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60743976C>G	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.855C>G	17.37:g.60743976C>G	ENSP00000307513:p.Ile285Met					MRC2_uc002jac.2_Missense_Mutation_p.I285M	p.I285M	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			4	1257	+			285			Extracellular (Potential).|C-type lectin 1.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.855C>G	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574285	0.28092	.	.	ENSG00000011028	ENST00000303375	T	0.25912	1.77	3.77	2.79	0.32731	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.40776	-0.9545	10	0.62326	D	0.03	-25.9804	10.8148	0.46569	0.0:0.8292:0.0:0.1708	.	285	Q9UBG0	MRC2_HUMAN	M	285	ENSP00000307513:I285M	ENSP00000307513:I285M	I	+	3	3	MRC2	58097708	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	2.659000	0.46741	0.287000	0.22375	-1.598000	0.00824	ATC		0.677	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1				4	18	0	0	0	0.000248	0	4	18		
MRC2	9902	broad.mit.edu	37	17	60767311	60767311	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:60767311G>A	ENST00000303375.5	+	25	4032	c.3630G>A	c.(3628-3630)caG>caA	p.Q1210Q	MRC2_ENST00000446119.2_Silent_p.Q76Q	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1210	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGCTGGCAGGACGGGGAGC	0.677																																						uc002jad.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3628-3630)CAG>CAA		mannose receptor, C type 2							13.0	17.0	16.0					17																	60767311		2194	4287	6481	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767311G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3630G>A	17.37:g.60767311G>A						MRC2_uc002jae.2_Silent_p.Q281Q|MRC2_uc002jaf.2_Silent_p.Q76Q	p.Q1210Q	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			25	4032	+			1210			Extracellular (Potential).|C-type lectin 7.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3630G>A	CCDS11634.1																																																																																				0.677	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1				5	38	0	0	0	0.000602	0	5	38		
GNA13	10672	broad.mit.edu	37	17	63052692	63052692	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:63052692G>A	ENST00000439174.2	-	1	265	c.20C>T	c.(19-21)tCg>tTg	p.S7L	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	7					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CACGGACCGCGACGGCAGGAA	0.731																																						uc002jfc.2		NaN																	0					0						c.(19-21)TCG>TTG		guanine nucleotide binding protein (G protein),							59.0	60.0	60.0					17																	63052692		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63052692G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.20C>T	17.37:g.63052692G>A	ENSP00000400717:p.Ser7Leu					GNA13_uc010wqh.1_5'Flank	p.S7L	NM_006572	NP_006563	Q14344	GNA13_HUMAN			1	229	-			7					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.20C>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255134	0.80135	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.85013	-1.93	3.76	3.76	0.43208	.	0.456476	0.21238	U	0.077861	T	0.82231	0.4992	L	0.53249	1.67	0.80722	D	1	P	0.41159	0.74	B	0.38327	0.271	D	0.84124	0.0408	10	0.52906	T	0.07	.	15.5507	0.76148	0.0:0.0:1.0:0.0	.	7	Q14344	GNA13_HUMAN	L	7	ENSP00000400717:S7L	ENSP00000239138:S7L	S	-	2	0	GNA13	60483154	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.667000	0.91153	1.615000	0.50252	0.313000	0.20887	TCG		0.731	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572		94	114	0	0	0	0.00361	0	94	114		
FAM20A	54757	broad.mit.edu	37	17	66550954	66550954	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66550954C>T	ENST00000592554.1	-	3	1326	c.604G>A	c.(604-606)Gag>Aag	p.E202K	RP11-120M18.5_ENST00000589826.1_lincRNA|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	202			DYSQDEKALLGACDCTQI -> V (in AI1G).		calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AAGGCTTTCTCATCTTGACTG	0.542																																						uc002jho.2		NaN																	0					0						c.(604-606)GAG>AAG		family with sequence similarity 20, member A							74.0	70.0	72.0					17																	66550954		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66550954C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.604G>A	17.37:g.66550954C>T	ENSP00000468308:p.Glu202Lys					FAM20A_uc010wqp.1_Missense_Mutation_p.E64K|FAM20A_uc002jhn.2_5'UTR	p.E202K	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN			3	892	-	Breast(10;1.64e-13)		202					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.604G>A	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095112	0.76870	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	M	0.68952	2.095	0.48571	D	0.999679	D	0.56521	0.976	P	0.52343	0.696	T	0.68830	-0.5305	9	0.34782	T	0.22	-34.2927	17.979	0.89134	0.0:1.0:0.0:0.0	.	202	Q96MK3	FA20A_HUMAN	K	202	.	ENSP00000226094:E202K	E	-	1	0	FAM20A	64062549	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.610000	0.67668	2.785000	0.95823	0.655000	0.94253	GAG		0.542	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2		NM_017565		39	39	0	0	0	0.00874	0	39	39		
ABCA8	10351	broad.mit.edu	37	17	66899010	66899010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66899010G>C	ENST00000269080.2	-	19	2625	c.2488C>G	c.(2488-2490)Cta>Gta	p.L830V	ABCA8_ENST00000430352.2_Missense_Mutation_p.L870V|ABCA8_ENST00000586539.1_Missense_Mutation_p.L870V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	830					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCAGCCATTAGAATTAATAGC	0.348																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(2488-2490)CTA>GTA		ATP-binding cassette, sub-family A member 8							54.0	56.0	56.0					17																	66899010		2199	4299	6498	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66899010G>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2488C>G	17.37:g.66899010G>C	ENSP00000269080:p.Leu830Val					ABCA8_uc002jhq.2_Missense_Mutation_p.L870V|ABCA8_uc010wqq.1_Missense_Mutation_p.L870V|ABCA8_uc010wqr.1_Missense_Mutation_p.L809V|ABCA8_uc002jhr.2_Missense_Mutation_p.L870V	p.L830V	NM_007168	NP_009099	O94911	ABCA8_HUMAN			19	2667	-	Breast(10;4.56e-13)		830			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2488C>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147151	0.21288	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.77229	-1.08;-1.08	5.09	-3.57	0.04612	.	0.549740	0.15170	N	0.276683	T	0.66257	0.2771	M	0.69358	2.11	0.09310	N	1	B;B;B;B;B	0.25351	0.124;0.011;0.044;0.077;0.042	B;B;B;B;B	0.32624	0.149;0.018;0.039;0.106;0.049	T	0.53472	-0.8434	10	0.14656	T	0.56	.	1.68	0.02830	0.4102:0.2349:0.2358:0.1191	.	809;870;870;870;830	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	V	830;870;809	ENSP00000269080:L830V;ENSP00000402814:L870V	ENSP00000269080:L830V	L	-	1	2	ABCA8	64410605	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.061000	0.01391	-0.440000	0.07211	0.650000	0.86243	CTA		0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		20	106	0	0	0	0.003954	0	20	106		
ABCA8	10351	broad.mit.edu	37	17	66925208	66925208	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66925208G>A	ENST00000269080.2	-	8	1244	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ABCA8_ENST00000430352.2_Silent_p.F369F|ABCA8_ENST00000586539.1_Silent_p.F369F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	369					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTCCAAGCATGAAGGCAAAGG	0.458																																						uc002jhp.2		NaN																	0				ovary(2)|skin(1)	3						c.(1105-1107)TTC>TTT		ATP-binding cassette, sub-family A member 8							84.0	70.0	75.0					17																	66925208		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925208G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1107C>T	17.37:g.66925208G>A						ABCA8_uc002jhq.2_Silent_p.F369F|ABCA8_uc010wqq.1_Silent_p.F369F|ABCA8_uc010wqr.1_Silent_p.F308F|ABCA8_uc002jhr.2_Silent_p.F369F	p.F369F	NM_007168	NP_009099	O94911	ABCA8_HUMAN			8	1286	-	Breast(10;4.56e-13)		369			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1107C>T	CCDS11680.1																																																																																				0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		24	76	0	0	0	0.00632	0	24	76		
ABCA9	10350	broad.mit.edu	37	17	66980209	66980209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:66980209G>A	ENST00000340001.4	-	35	4698	c.4487C>T	c.(4486-4488)tCa>tTa	p.S1496L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.S1458L|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1496	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGCCTTCCTGACACCATGAT	0.597																																						uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4486-4488)TCA>TTA		ATP-binding cassette, sub-family A, member 9							88.0	76.0	80.0					17																	66980209		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66980209G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4487C>T	17.37:g.66980209G>A	ENSP00000342216:p.Ser1496Leu					ABCA9_uc010dez.2_Missense_Mutation_p.S1458L	p.S1496L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			35	4630	-	Breast(10;1.47e-12)		1496			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4487C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652847	0.67472	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.97959	-4.63	4.86	2.88	0.33553	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.835838	0.09975	N	0.731744	D	0.97551	0.9198	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	D	0.94268	0.7508	10	0.87932	D	0	.	10.6928	0.45882	0.1558:0.0:0.8442:0.0	.	1496	Q8IUA7	ABCA9_HUMAN	L	1496;1441	ENSP00000342216:S1496L	ENSP00000342216:S1496L	S	-	2	0	ABCA9	64491804	1.000000	0.71417	0.578000	0.28575	0.778000	0.44026	5.999000	0.70665	0.587000	0.29643	-0.812000	0.03155	TCA		0.597	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		24	110	0	0	0	0.004656	0	24	110		
KCTD2	23510	broad.mit.edu	37	17	73055613	73055613	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:73055613G>A	ENST00000322444.6	+	4	555	c.549G>A	c.(547-549)gtG>gtA	p.V183V	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	183					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					AGGGCCCCGTGAAGCACGTGT	0.527																																						uc002jmp.2		NaN																	0					0						c.(547-549)GTG>GTA		potassium channel tetramerisation domain							86.0	69.0	75.0					17																	73055613		2203	4300	6503	SO:0001819	synonymous_variant	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055613G>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.549G>A	17.37:g.73055613G>A						KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	p.V183V	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			4	616	+	all_lung(278;0.226)		183						Silent	SNP	ENST00000322444.6	37	c.549G>A	CCDS32728.1																																																																																				0.527	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1				16	38	0	0	0	0.003163	0	16	38		
SRP68	6730	broad.mit.edu	37	17	74056437	74056437	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74056437C>T	ENST00000307877.2	-	7	950	c.789G>A	c.(787-789)atG>atA	p.M263I	SRP68_ENST00000539137.1_Missense_Mutation_p.M225I|SRP68_ENST00000355113.5_Missense_Mutation_p.M162I	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	263					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACCTCAATCTCATCTGCATGA	0.428																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(787-789)ATG>ATA		signal recognition particle 68kDa							83.0	83.0	83.0					17																	74056437		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74056437C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.789G>A	17.37:g.74056437C>T	ENSP00000312066:p.Met263Ile					SRP68_uc010wsu.1_Missense_Mutation_p.M162I|SRP68_uc002jql.1_Missense_Mutation_p.M225I	p.M263I	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			7	824	-			263					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.789G>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347488	0.82022	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	.	.	.	5.23	5.23	0.72850	.	0.073231	0.85682	D	0.000000	T	0.68348	0.2991	M	0.77313	2.365	0.80722	D	1	P;P	0.47191	0.6;0.891	B;P	0.45610	0.316;0.487	T	0.66783	-0.5836	9	0.17832	T	0.49	-19.1258	19.179	0.93615	0.0:1.0:0.0:0.0	.	225;263	G3V1U4;Q9UHB9	.;SRP68_HUMAN	I	3;225;263;263;162	.	ENSP00000312066:M263I	M	-	3	0	SRP68	71568032	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.600000	0.82769	2.601000	0.87937	0.467000	0.42956	ATG		0.428	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		19	96	0	0	0	0.003954	0	19	96		
SRP68	6730	broad.mit.edu	37	17	74068563	74068563	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74068563C>T	ENST00000307877.2	-	1	171	c.10G>A	c.(10-12)Gag>Aag	p.E4K	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_Missense_Mutation_p.E4K|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACCTGCTTCTCAGCAGCCATC	0.746																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(10-12)GAG>AAG		signal recognition particle 68kDa							6.0	7.0	7.0					17																	74068563		1731	3735	5466	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068563C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.10G>A	17.37:g.74068563C>T	ENSP00000312066:p.Glu4Lys					SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.E4K|GALR2_uc002jqm.1_5'Flank	p.E4K	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			1	45	-			4					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.10G>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712170	0.96830	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	5.1	5.1	0.69264	.	0.066648	0.64402	D	0.000017	T	0.47507	0.1449	L	0.29908	0.895	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.25405	0.06;0.06	T	0.52117	-0.8618	9	0.87932	D	0	-31.182	17.0759	0.86586	0.0:1.0:0.0:0.0	.	4;4	G3V1U4;Q9UHB9	.;SRP68_HUMAN	K	4	.	ENSP00000307756:E4K	E	-	1	0	SRP68	71580158	0.997000	0.39634	0.995000	0.50966	0.992000	0.81027	4.653000	0.61462	2.538000	0.85594	0.542000	0.68232	GAG		0.746	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		23	80	0	0	0	0.00278	0	23	80		
UBE2O	63893	broad.mit.edu	37	17	74387651	74387651	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74387651G>A	ENST00000319380.7	-	18	3316	c.3252C>T	c.(3250-3252)ttC>ttT	p.F1084F		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1084					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGTCACTGTCGAAGCCGGCTT	0.577																																						uc002jrm.3		NaN																	0				breast(2)|skin(2)|lung(1)	5						c.(3250-3252)TTC>TTT		ubiquitin-conjugating enzyme E2O							119.0	119.0	119.0					17																	74387651		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387651G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3252C>T	17.37:g.74387651G>A						UBE2O_uc002jrl.3_Silent_p.F688F	p.F1084F	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			18	3317	-			1084					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3252C>T	CCDS32742.1																																																																																				0.577	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1		NM_022066		45	121	0	0	0	0.00361	0	45	121		
SRSF2	6427	broad.mit.edu	37	17	74732523	74732523	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74732523C>A	ENST00000392485.2	-	2	558	c.386G>T	c.(385-387)cGa>cTa	p.R129L	MFSD11_ENST00000591864.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129L|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117L|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MIR636_ENST00000384825.1_RNA	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACTCCGGGATCGGCTGCGGCG	0.711			Mis		"""MDS, CLL"""																																	uc002jsv.2		NaN		Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					0					0						c.(385-387)CGA>CTA		splicing factor, arginine/serine-rich 2							36.0	36.0	36.0					17																	74732523		2202	4300	6502	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732523C>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.386G>T	17.37:g.74732523C>A	ENSP00000376276:p.Arg129Leu					SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R129L|SFRS2_uc010wtg.1_Missense_Mutation_p.R117L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.R129L	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	556	-			129			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.386G>T	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.236686|3.236686	0.58886|0.58886	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T;T;T;T	.|0.75367	.|0.96;2.31;-0.93;-0.89	4.68|4.68	3.7|3.7	0.42460|0.42460	.|.	.|0.073617	.|0.50627	.|D	.|0.000107	T|T	0.69878|0.69878	0.3160|0.3160	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|P;P	.|0.35242	.|0.492;0.492	.|B;B	.|0.27076	.|0.076;0.076	T|T	0.69101|0.69101	-0.5234|-0.5234	6|10	0.52906|0.39692	T|T	0.07|0.17	.|.	12.6498|12.6498	0.56755|0.56755	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	.|117;129	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	Y|L	79|129;156;117;109	.|ENSP00000376276:R129L;ENSP00000441780:R156L;ENSP00000350877:R117L;ENSP00000353089:R109L	ENSP00000391278:D79Y|ENSP00000350877:R117L	D|R	-|-	1|2	0|0	SRSF2|SRSF2	72244118|72244118	1.000000|1.000000	0.71417|0.71417	0.496000|0.496000	0.27539|0.27539	0.903000|0.903000	0.53119|0.53119	5.633000|5.633000	0.67825|0.67825	0.942000|0.942000	0.37525|0.37525	0.467000|0.467000	0.42956|0.42956	GAT|CGA		0.711	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1		NM_003016		13	66	1	0	1.49906e-05	0.00245	1.80187e-05	13	66		
DNAH17	8632	broad.mit.edu	37	17	76451810	76451810	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:76451810G>A	ENST00000585328.1	-	63	10195	c.10071C>T	c.(10069-10071)ttC>ttT	p.F3357F	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.F3348F	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3348					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTAGGACACGAAGGCAGAGA	0.522																																						uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(1084-1086)TTC>TTT		SubName: Full=DNAH17 variant protein; Flags: Fragment;							88.0	68.0	75.0					17																	76451810		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76451810G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10071C>T	17.37:g.76451810G>A						DNAH17_uc002jvs.2_RNA	p.F362F					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	1308	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1086C>T																																																																																					0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		9	21	0	0	0	0.004482	0	9	21		
EIF4A3	9775	broad.mit.edu	37	17	78115614	78115614	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115614G>A	ENST00000269349.3	-	3	497	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	92	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CTGAGATACTGAAGGTGGCTG	0.438																																						uc010wuc.1		NaN																	0				ovary(1)	1						c.(274-276)TTC>TTT		eukaryotic translation initiation factor 4A,							142.0	130.0	134.0					17																	78115614		2203	4300	6503	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78115614G>A	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.276C>T	17.37:g.78115614G>A						EIF4A3_uc002jxs.2_Silent_p.F92F	p.F92F	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	349	-	all_neural(118;0.117)		92			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.276C>T	CCDS11767.1																																																																																				0.438	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		17	42	0	0	0	0.006122	0	17	42		
EIF4A3	9775	broad.mit.edu	37	17	78115643	78115643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78115643G>A	ENST00000269349.3	-	3	468	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	83	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GTGCCGGACTGAGACCTATTC	0.478																																						uc010wuc.1		NaN																	0				ovary(1)	1						c.(247-249)CAG>TAG		eukaryotic translation initiation factor 4A,							121.0	109.0	113.0					17																	78115643		2203	4300	6503	SO:0001587	stop_gained	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78115643G>A	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.247C>T	17.37:g.78115643G>A	ENSP00000269349:p.Gln83*					EIF4A3_uc002jxs.2_Nonsense_Mutation_p.Q83*	p.Q83*	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	320	-	all_neural(118;0.117)		83			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Nonsense_Mutation	SNP	ENST00000269349.3	37	c.247C>T	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.205686	0.79127	.	.	ENSG00000141543	ENST00000269349	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.5594	15.5323	0.75974	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000269349:Q83X	Q	-	1	0	EIF4A3	75730238	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.194000	0.94962	2.334000	0.79466	0.455000	0.32223	CAG		0.478	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1		NM_014740		12	42	0	0	0	0.001368	0	12	42		
RNF213	57674	broad.mit.edu	37	17	78359383	78359383	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:78359383C>G	ENST00000582970.1	+	61	14644	c.14501C>G	c.(14500-14502)tCc>tGc	p.S4834C	RNF213_ENST00000508628.2_Missense_Mutation_p.S4883C|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2907C|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4834					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTTTCTGTCCACATGGAAC	0.498																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8719-8721)TCC>TGC		ring finger protein 213							165.0	120.0	135.0					17																	78359383		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78359383C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14501C>G	17.37:g.78359383C>G	ENSP00000464087:p.Ser4834Cys					uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	p.S2907C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		36	8943	+	all_neural(118;0.0538)		1200					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8720C>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043842	0.36085	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.25085	1.82	5.03	4.05	0.47172	.	0.152866	0.45606	D	0.000346	T	0.41305	0.1153	M	0.73598	2.24	0.25849	N	0.983963	D	0.71674	0.998	P	0.57324	0.818	T	0.33085	-0.9882	10	0.87932	D	0	.	7.7004	0.28619	0.1639:0.7541:0.0:0.0819	.	2907	Q63HN8	RN213_HUMAN	C	4834;4883;2907;184	ENSP00000338218:S2907C	ENSP00000338218:S2907C	S	+	2	0	RNF213	75973978	0.870000	0.30015	0.107000	0.21349	0.002000	0.02628	1.551000	0.36233	1.103000	0.41568	0.555000	0.69702	TCC		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		10	44	0	0	0	0.001368	0	10	44		
SLC38A10	124565	broad.mit.edu	37	17	79263557	79263557	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:79263557G>A	ENST00000374759.3	-	2	534	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	SLC38A10_ENST00000288439.5_Missense_Mutation_p.H51Y	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	51					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACGACTGGTGCGTCATCCAT	0.632																																						uc002jzz.1		NaN																	0				pancreas(1)|skin(1)	2						c.(151-153)CAC>TAC		solute carrier family 38, member 10 isoform a							66.0	54.0	58.0					17																	79263557		2203	4300	6503	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79263557G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.151C>T	17.37:g.79263557G>A	ENSP00000363891:p.His51Tyr					SLC38A10_uc002kab.2_Missense_Mutation_p.H51Y	p.H51Y	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	526	-	all_neural(118;0.0804)|Melanoma(429;0.242)		51			Helical; (Potential).		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.151C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144456	0.94603	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.01981	4.52;4.52	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.41236	1.265	0.58432	D	0.999999	B;D	0.89917	0.232;1.0	B;D	0.87578	0.241;0.998	T	0.39440	-0.9614	10	0.02654	T	1	-27.942	18.546	0.91047	0.0:0.0:1.0:0.0	.	51;51	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	Y	51;51;3	ENSP00000363891:H51Y;ENSP00000288439:H51Y	ENSP00000288439:H51Y	H	-	1	0	SLC38A10	76878152	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.277000	0.95755	2.446000	0.82766	0.655000	0.94253	CAC		0.632	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570		15	35	0	0	0	0.004007	0	15	35		
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.(2416-2418)CGA>TGA		erythrocyte membrane protein band 4.1-like 3							225.0	231.0	229.0					18																	5398076		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398076G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	18.37:g.5398076G>A	ENSP00000343158:p.Arg806*					EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198*	p.R806*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			17	2502	-			806			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.2416C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		45	306	0	0	0	0.00361	0	45	306		
ANKRD12	23253	broad.mit.edu	37	18	9255144	9255144	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:9255144G>A	ENST00000262126.4	+	9	2119	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E604K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E604K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	627						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E627K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATAAAGGATGAAGATCATAG	0.284																																						uc002knv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1879-1881)GAA>AAA		ankyrin repeat domain 12 isoform 1							37.0	41.0	40.0					18																	9255144		2201	4288	6489	SO:0001583	missense	23253					nucleus		g.chr18:9255144G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1879G>A	18.37:g.9255144G>A	ENSP00000262126:p.Glu627Lys					ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K	p.E627K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2136	+			627					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1879G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231587	0.39399	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92348	-3.02;-3.02	5.53	5.53	0.82687	.	0.183346	0.49305	D	0.000157	D	0.91740	0.7388	M	0.65975	2.015	0.42913	D	0.994263	P;P;P	0.48503	0.911;0.911;0.856	B;B;B	0.41374	0.355;0.355;0.193	D	0.92867	0.6311	10	0.66056	D	0.02	-17.09	19.4706	0.94962	0.0:0.0:1.0:0.0	.	254;604;627	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	K	604;627;334	ENSP00000372932:E604K;ENSP00000262126:E627K	ENSP00000262126:E627K	E	+	1	0	ANKRD12	9245144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.778000	0.75043	2.611000	0.88343	0.460000	0.39030	GAA		0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208		25	82	0	0	0	0.00278	0	25	82		
PSMG2	56984	broad.mit.edu	37	18	12706694	12706694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:12706694C>G	ENST00000317615.6	+	2	885	c.203C>G	c.(202-204)tCa>tGa	p.S68*	PSMG2_ENST00000590217.1_Nonsense_Mutation_p.S68*|PSMG2_ENST00000585331.2_Nonsense_Mutation_p.S37*	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						GAAGGAAATTCAACAGAACTT	0.323																																						uc002krk.2		NaN																	0					0						c.(202-204)TCA>TGA		proteasome (prosome, macropain) assembly							123.0	115.0	118.0					18																	12706694		2203	4300	6503	SO:0001587	stop_gained	56984				proteasome assembly	nucleus	protein binding	g.chr18:12706694C>G	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"""hepatocellular carcinoma susceptibility protein"", ""CD40 ligand-activated specific transcript 3"""	609702	"""tumor necrosis factor superfamily, member 5-induced protein 1"""	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.203C>G	18.37:g.12706694C>G	ENSP00000325919:p.Ser68*					PSMG2_uc002krg.2_Nonsense_Mutation_p.S37*|PSMG2_uc002krj.1_Nonsense_Mutation_p.S68*	p.S68*	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN			2	246	+			68						Nonsense_Mutation	SNP	ENST00000317615.6	37	c.203C>G	CCDS11862.1	.	.	.	.	.	.	.	.	.	.	c	43	9.855664	0.99280	.	.	ENSG00000128789	ENST00000317615;ENST00000539202	.	.	.	5.79	4.92	0.64577	.	0.182863	0.47455	D	0.000239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.8293	17.134	0.86734	0.0:0.8738:0.1262:0.0	.	.	.	.	X	68;50	.	ENSP00000325919:S68X	S	+	2	0	PSMG2	12696694	0.968000	0.33430	0.943000	0.38184	0.735000	0.41995	4.247000	0.58750	1.436000	0.47453	0.552000	0.68991	TCA		0.323	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1		NM_020232		22	56	0	0	0	0.002299	0	22	56		
GATA6	2627	broad.mit.edu	37	18	19780746	19780746	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:19780746C>A	ENST00000269216.3	+	7	2025	c.1748C>A	c.(1747-1749)tCc>tAc	p.S583Y	GATA6_ENST00000581694.1_Missense_Mutation_p.S583Y|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	583					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTCACGTCCTCCGTGCGACCG	0.672																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NaN																	0				central_nervous_system(3)	3						c.(1747-1749)TCC>TAC		GATA binding protein 6							56.0	41.0	46.0					18																	19780746		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780746C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1748C>A	18.37:g.19780746C>A	ENSP00000269216:p.Ser583Tyr					GATA6_uc002ktu.1_Missense_Mutation_p.S583Y	p.S583Y	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	2013	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		583					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1748C>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840099	0.71488	.	.	ENSG00000141448	ENST00000269216	D	0.98264	-4.83	5.91	5.03	0.67393	.	0.155915	0.43579	D	0.000547	D	0.98639	0.9544	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.99744	1.1016	10	0.87932	D	0	-15.3813	17.2299	0.86982	0.0:0.8743:0.1257:0.0	.	583	Q92908	GATA6_HUMAN	Y	583	ENSP00000269216:S583Y	ENSP00000269216:S583Y	S	+	2	0	GATA6	18034744	1.000000	0.71417	0.312000	0.25196	0.981000	0.71138	6.527000	0.73803	1.489000	0.48450	0.655000	0.94253	TCC		0.672	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1		NM_005257		27	253	1	0	2.79863e-10	0.004656	3.46223e-10	27	253		
RBBP8	5932	broad.mit.edu	37	18	20564853	20564853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:20564853G>A	ENST00000399722.2	+	8	960	c.609G>A	c.(607-609)atG>atA	p.M203I	RBBP8_ENST00000360790.5_Missense_Mutation_p.M203I|RBBP8_ENST00000399725.2_Missense_Mutation_p.M203I|RBBP8_ENST00000327155.5_Missense_Mutation_p.M203I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	203					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCTTAGAAATGAGAAAAGTTT	0.279								Homologous recombination																														uc002ktw.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(607-609)ATG>ATA	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							62.0	61.0	62.0					18																	20564853		2203	4297	6500	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20564853G>A	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.609G>A	18.37:g.20564853G>A	ENSP00000382628:p.Met203Ile					RBBP8_uc002kty.2_Missense_Mutation_p.M203I|RBBP8_uc002ktz.2_Missense_Mutation_p.M203I|RBBP8_uc002kua.2_Missense_Mutation_p.M203I|RBBP8_uc002ktx.1_Missense_Mutation_p.M203I	p.M203I	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		8	940	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		203					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.609G>A	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861338	0.32884	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.28454	1.63;1.61;1.63;1.63;1.63	5.52	-3.09	0.05331	.	0.465198	0.20682	N	0.087640	T	0.11239	0.0274	N	0.08118	0	0.21652	N	0.999607	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12243	-1.0555	10	0.45353	T	0.12	-2.5029	4.6424	0.12556	0.5584:0.0:0.228:0.2136	.	203;203;203	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	I	203	ENSP00000323050:M203I;ENSP00000382630:M203I;ENSP00000382628:M203I;ENSP00000382627:M203I;ENSP00000354024:M203I	ENSP00000323050:M203I	M	+	3	0	RBBP8	18818851	0.923000	0.31300	0.042000	0.18584	0.749000	0.42624	0.200000	0.17257	-0.029000	0.13827	0.462000	0.41574	ATG		0.279	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1		NM_203291		9	61	0	0	0	0.006214	0	9	61		
LAMA3	3909	broad.mit.edu	37	18	21494446	21494446	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:21494446G>C	ENST00000313654.9	+	57	7643	c.7402G>C	c.(7402-7404)Gag>Cag	p.E2468Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E803Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2412Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.E859Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2468	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGGGACCGTGAGGCTGAACT	0.537																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(7402-7404)GAG>CAG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	86.0	89.0					18																	21494446		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21494446G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7402G>C	18.37:g.21494446G>C	ENSP00000324532:p.Glu2468Gln					LAMA3_uc002kur.2_Missense_Mutation_p.E2412Q|LAMA3_uc002kus.3_Missense_Mutation_p.E859Q|LAMA3_uc002kut.3_Missense_Mutation_p.E803Q	p.E2468Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			57	7488	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2468			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7402G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261795	0.59431	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.76186	-1.0;-1.0;-1.0	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86070	0.5845	M	0.78916	2.43	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.70227	0.958;0.948;0.968;0.95	D	0.85154	0.0988	9	0.36615	T	0.2	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	803;859;2412;2468	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Q	2468;2412;859	ENSP00000324532:E2468Q;ENSP00000382432:E2412Q;ENSP00000269217:E859Q	ENSP00000269217:E859Q	E	+	1	0	LAMA3	19748444	1.000000	0.71417	0.738000	0.30950	0.042000	0.13812	6.778000	0.75043	2.442000	0.82660	0.561000	0.74099	GAG		0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		5	72	0	0	0	0.001168	0	5	72		
DSC2	1824	broad.mit.edu	37	18	28673588	28673588	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:28673588C>G	ENST00000280904.6	-	2	531	c.88G>C	c.(88-90)Gat>Cat	p.D30H	DSC2_ENST00000251081.6_Missense_Mutation_p.D30H	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	30					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGCAGGCATCACTGGCAAAT	0.269																																						uc002kwl.3		NaN																	0				ovary(2)|skin(1)	3						c.(88-90)GAT>CAT		desmocollin 2 isoform Dsc2a preproprotein							85.0	90.0	88.0					18																	28673588		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28673588C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.88G>C	18.37:g.28673588C>G	ENSP00000280904:p.Asp30His					DSC2_uc002kwk.3_Missense_Mutation_p.D30H|DSC2_uc010xbo.1_Missense_Mutation_p.D30H	p.D30H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		2	542	-			30						Missense_Mutation	SNP	ENST00000280904.6	37	c.88G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226924	0.39399	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.61158	0.14;0.13	5.3	4.42	0.53409	Cadherin-like (1);	0.246616	0.21170	N	0.078991	T	0.72882	0.3516	M	0.75777	2.31	0.46981	D	0.999274	D;D	0.60160	0.987;0.984	P;P	0.62298	0.9;0.878	T	0.76705	-0.2861	10	0.87932	D	0	.	13.9452	0.64080	0.0:0.8464:0.1536:0.0	.	30;30	Q02487;Q02487-2	DSC2_HUMAN;.	H	30	ENSP00000251081:D30H;ENSP00000280904:D30H	ENSP00000251081:D30H	D	-	1	0	DSC2	26927586	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	3.050000	0.49877	1.328000	0.45358	-0.291000	0.09656	GAT		0.269	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1		NM_004949		54	135	0	0	0	0.00361	0	54	135		
DSG2	1829	broad.mit.edu	37	18	29126602	29126602	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29126602C>G	ENST00000261590.8	+	15	3462	c.3253C>G	c.(3253-3255)Ctg>Gtg	p.L1085V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1085					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGGCCCTCTGCCAGATTT	0.478																																						uc002kwu.3		NaN																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(3253-3255)CTG>GTG		desmoglein 2 preproprotein							84.0	83.0	83.0					18																	29126602		1928	4137	6065	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126602C>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3253C>G	18.37:g.29126602C>G	ENSP00000261590:p.Leu1085Val					uc002kwv.3_Intron	p.L1085V	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3441	+			1085			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.3253C>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942259	0.02322	.	.	ENSG00000046604	ENST00000261590	T	0.59083	0.29	5.02	-0.124	0.13523	.	1.024840	0.07803	N	0.956793	T	0.39489	0.1080	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.22173	-1.0224	10	0.33940	T	0.23	.	2.7454	0.05265	0.1111:0.4365:0.2492:0.2032	.	1085	Q14126	DSG2_HUMAN	V	1085	ENSP00000261590:L1085V	ENSP00000261590:L1085V	L	+	1	2	DSG2	27380600	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.010000	0.12743	-0.118000	0.11851	0.655000	0.94253	CTG		0.478	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943		24	85	0	0	0	0.003954	0	24	85		
SLC25A52	147407	broad.mit.edu	37	18	29340499	29340499	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29340499G>T	ENST00000579441.2	-	1	125	c.126C>A	c.(124-126)ttC>ttA	p.F42L	SLC25A52_ENST00000269205.5_Missense_Mutation_p.F52L			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	42					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CGACGTTGTTGAAGGCTGCAC	0.438																																						uc002kxa.2		NaN																	0				skin(1)	1						c.(124-126)TTC>TTA		mitochondrial carrier triple repeat 2							101.0	98.0	99.0					18																	29340499		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340499G>T		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.126C>A	18.37:g.29340499G>T	ENSP00000462754:p.Phe42Leu						p.F42L	NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0539)		1	345	-			42			Solcar 1.|Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000579441.2	37	c.126C>A		.	.	.	.	.	.	.	.	.	.	G	9.877	1.200446	0.22121	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.77750	-1.12	0.731	0.731	0.18277	Mitochondrial carrier domain (2);	0.139370	0.48286	D	0.000197	T	0.56514	0.1990	N	0.20304	0.555	0.45378	D	0.998363	B	0.14805	0.011	B	0.23150	0.044	T	0.34104	-0.9842	10	0.11182	T	0.66	.	7.2503	0.26146	0.0:0.0:1.0:0.0	.	42	Q3SY17	MCAR2_HUMAN	L	52;42	ENSP00000372612:F52L	ENSP00000372612:F52L	F	-	3	2	MCART2	27594497	0.998000	0.40836	0.566000	0.28421	0.193000	0.23685	0.120000	0.15647	0.657000	0.30906	0.511000	0.50034	TTC		0.438	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_084000		49	126	1	0	6.03219e-31	0.00361	7.7075e-31	49	126		
GAREM	64762	broad.mit.edu	37	18	29848662	29848662	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:29848662C>A	ENST00000269209.6	-	6	1806	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	GAREM_ENST00000399218.4_Silent_p.V600V			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	601					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AATCAGTTTTCACTCGGTTAC	0.458																																						uc002kxl.2		NaN																	0				ovary(1)|skin(1)	2						c.(1801-1803)GTG>GTT		family with sequence similarity 59, member A							79.0	77.0	78.0					18																	29848662		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848662C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1803G>T	18.37:g.29848662C>A						FAM59A_uc002kxk.1_Silent_p.V600V	p.V601V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			6	1859	-			601					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1803G>T	CCDS56057.1																																																																																				0.458	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751		15	46	1	0	1.05317e-09	0.00245	1.29843e-09	15	46		
CELF4	56853	broad.mit.edu	37	18	34839145	34839145	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:34839145G>A	ENST00000591282.1	-	11	1331	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CELF4_ENST00000334919.5_Intron|CELF4_ENST00000601019.1_Splice_Site_p.F442F|CELF4_ENST00000412753.1_Splice_Site_p.F443F|CELF4_ENST00000420428.2_Splice_Site_p.F444F|CELF4_ENST00000591287.1_Splice_Site_p.F442F|CELF4_ENST00000588597.1_Silent_p.F432F|CELF4_ENST00000603232.1_Splice_Site_p.F443F|CELF4_ENST00000361795.5_Splice_Site_p.F442F			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	444	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGACATTACCGAAAGGGAGGA	0.522																																						uc002lae.2		NaN																	0				ovary(2)	2						c.(1330-1332)TTC>TTT		bruno-like 4, RNA binding protein isoform 1							75.0	62.0	67.0					18																	34839145		2203	4300	6503	SO:0001630	splice_region_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839145G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1333+1C>T	18.37:g.34839145G>A						CELF4_uc010dnd.1_Silent_p.F442F|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Silent_p.F438F|CELF4_uc002lai.2_Silent_p.F428F	p.F444F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			11	1728	-			444			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.1332C>T	CCDS32818.1																																																																																				0.522	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180	Silent	24	61	0	0	0	0.005443	0	24	61		
SLC14A2	8170	broad.mit.edu	37	18	43221187	43221187	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43221187C>A	ENST00000255226.6	+	8	1821	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	SLC14A2_ENST00000586448.1_Silent_p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	335					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCAGTGGCCACACCCTTCG	0.577																																						uc010dnj.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1003-1005)GCC>GCA		solute carrier family 14 (urea transporter),							145.0	95.0	112.0					18																	43221187		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43221187C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1005C>A	18.37:g.43221187C>A						SLC14A2_uc002lbb.2_Silent_p.A335A|SLC14A2_uc002lbe.2_Silent_p.A335A	p.A335A	NM_007163	NP_009094	Q15849	UT2_HUMAN			9	1326	+			335					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1005C>A	CCDS11924.1																																																																																				0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1				14	136	1	0	6.81908e-15	0.00245	8.55355e-15	14	136		
TCEB3B	51224	broad.mit.edu	37	18	44559892	44559892	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44559892C>G	ENST00000332567.4	-	1	2096	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	582	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAATTCGTCTGTCTCTCTA	0.517																																						uc002lcr.1		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1744-1746)GAC>CAC		elongin A2							60.0	57.0	58.0					18																	44559892		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559892C>G	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1744G>C	18.37:g.44559892C>G	ENSP00000331302:p.Asp582His					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.D582H	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2097	-			582			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1744G>C	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493626	0.44352	.	.	ENSG00000206181	ENST00000332567	T	0.39787	1.06	1.4	1.4	0.22301	.	0.244786	0.28146	N	0.016428	T	0.65439	0.2691	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69789	-0.5050	10	0.87932	D	0	-13.73	8.7644	0.34694	0.0:1.0:0.0:0.0	.	582	Q8IYF1	ELOA2_HUMAN	H	582	ENSP00000331302:D582H	ENSP00000331302:D582H	D	-	1	0	TCEB3B	42813890	0.986000	0.35501	0.004000	0.12327	0.003000	0.03518	2.605000	0.46283	1.090000	0.41315	0.609000	0.83330	GAC		0.517	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		8	77	0	0	0	0.004482	0	8	77		
IER3IP1	51124	broad.mit.edu	37	18	44702592	44702592	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:44702592G>T	ENST00000256433.3	-	1	153	c.57C>A	c.(55-57)atC>atA	p.I19I	IER3IP1_ENST00000588705.1_Silent_p.I19I	NM_016097.4	NP_057181.1			immediate early response 3 interacting protein 1											large_intestine(1)	1						GCAGCACTGCGATGGCGTTGA	0.677																																						uc002lcu.2		NaN																	0					0						c.(55-57)ATC>ATA		immediate early response 3 interacting protein							17.0	21.0	19.0					18																	44702592		2202	4297	6499	SO:0001819	synonymous_variant	51124					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane		g.chr18:44702592G>T	AF371963	CCDS11933.1	18q12	2006-06-23			ENSG00000134049	ENSG00000134049			18550	protein-coding gene	gene with protein product		609382				15276200	Standard	NM_016097		Approved		uc002lcu.3	Q9Y5U9	OTTHUMG00000132650	ENST00000256433.3:c.57C>A	18.37:g.44702592G>T							p.I19I	NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN			1	154	-			19			Helical; (Potential).			Silent	SNP	ENST00000256433.3	37	c.57C>A	CCDS11933.1																																																																																				0.677	IER3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255901.1		NM_016097		6	16	1	0	3.59834e-05	0.001168	4.30724e-05	6	16		
SKA1	220134	broad.mit.edu	37	18	47918545	47918545	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:47918545G>A	ENST00000285116.3	+	7	907	c.696G>A	c.(694-696)ctG>ctA	p.L232L	SKA1_ENST00000488454.1_Silent_p.L81L|SKA1_ENST00000398452.2_Silent_p.L232L|SKA1_ENST00000417656.2_Silent_p.L186L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	232					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ACGTGTTACTGAATATTTTAC	0.393																																						uc002let.2		NaN																	0					0						c.(694-696)CTG>CTA		spindle and KT associated 1							87.0	87.0	87.0					18																	47918545		2203	4300	6503	SO:0001819	synonymous_variant	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918545G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.696G>A	18.37:g.47918545G>A						SKA1_uc002leu.2_Silent_p.L232L|SKA1_uc010xdl.1_Silent_p.L186L	p.L232L	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN			7	880	+			232					B2R9Y6|B4E0P4	Silent	SNP	ENST00000285116.3	37	c.696G>A	CCDS11946.1																																																																																				0.393	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2		NM_145060		33	82	0	0	0	0.003271	0	33	82		
ATP8B1	5205	broad.mit.edu	37	18	55322535	55322535	+	Missense_Mutation	SNP	C	C	T	rs187630495		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:55322535C>T	ENST00000283684.4	-	22	2821	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R941Q			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	941					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTAAGACCATCGGCCATGCAC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20099	0.0		0.0	False		,,,				2504	0.0					uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(2821-2823)CGA>CAA		ATPase, class I, type 8B, member 1							158.0	132.0	141.0					18																	55322535		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55322535C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2822G>A	18.37:g.55322535C>T	ENSP00000283684:p.Arg941Gln					uc002lgu.1_Intron|uc002lgv.1_Intron	p.R941Q	NM_005603	NP_005594	O43520	AT8B1_HUMAN			22	2822	-		Colorectal(73;0.229)	941			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.2822G>A	CCDS11965.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.659808	0.96734	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.97575	-4.44;-4.44	5.9	5.9	0.94986	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99353	1.0915	10	0.87932	D	0	.	19.8615	0.96786	0.0:1.0:0.0:0.0	.	941	O43520	AT8B1_HUMAN	Q	941	ENSP00000283684:R941Q;ENSP00000445359:R941Q	ENSP00000283684:R941Q	R	-	2	0	ATP8B1	53473533	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.776000	0.85560	2.786000	0.95864	0.561000	0.74099	CGA		0.433	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		30	96	0	0	0	0.007291	0	30	96		
ZNF532	55205	broad.mit.edu	37	18	56585882	56585882	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:56585882G>A	ENST00000336078.4	+	4	1139	c.363G>A	c.(361-363)ctG>ctA	p.L121L	ZNF532_ENST00000591230.1_Silent_p.L121L|ZNF532_ENST00000589288.1_Silent_p.L121L|ZNF532_ENST00000591808.1_Silent_p.L121L|ZNF532_ENST00000591083.1_Silent_p.L121L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGGTGACACTGAAAGACTCGA	0.493																																						uc002lho.2		NaN																	0				breast(1)|skin(1)	2						c.(361-363)CTG>CTA		zinc finger protein 532							106.0	89.0	95.0					18																	56585882		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585882G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.363G>A	18.37:g.56585882G>A						ZNF532_uc002lhp.2_Silent_p.L119L|ZNF532_uc010xeg.1_Silent_p.L119L|ZNF532_uc002lhr.2_Silent_p.L119L|ZNF532_uc002lhs.2_Silent_p.L119L	p.L121L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	910	+			121					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.363G>A	CCDS11969.1																																																																																				0.493	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181		21	97	0	0	0	0.002299	0	21	97		
SERPINB8	5271	broad.mit.edu	37	18	61647057	61647057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:61647057G>A	ENST00000397985.2	+	3	447	c.191G>A	c.(190-192)gGa>gAa	p.G64E	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.G64E|SERPINB8_ENST00000353706.2_Missense_Mutation_p.G64E|HMSD_ENST00000481726.1_3'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	64					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TACAAAGACGGAGATATTCAC	0.433											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ljv.2		NaN																	0				skin(1)	1						c.(190-192)GGA>GAA		serine (or cysteine) proteinase inhibitor, clade							157.0	153.0	154.0					18																	61647057		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61647057G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.191G>A	18.37:g.61647057G>A	ENSP00000381072:p.Gly64Glu		OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1055	SERPINB8_uc002ljs.1_Missense_Mutation_p.G64E|SERPINB8_uc002ljt.2_Missense_Mutation_p.G64E|SERPINB8_uc002lju.2_Missense_Mutation_p.G64E|SERPINB8_uc010xex.1_5'UTR	p.G64E	NM_198833	NP_942130	P50452	SPB8_HUMAN			3	360	+		Esophageal squamous(42;0.129)	64					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.191G>A	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.309|7.309	0.614553|0.614553	0.14129|0.14129	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000295211|ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	.|D;D;D;D;D	.|0.82893	.|-1.66;-1.66;-1.66;-1.66;-1.66	4.75|4.75	0.661|0.661	0.17874|0.17874	.|Serpin domain (3);	.|0.449261	.|0.26704	.|N	.|0.022938	T|T	0.60805|0.60805	0.2297|0.2297	N|N	0.20357|0.20357	0.565|0.565	0.18873|0.18873	N|N	0.999987|0.999987	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.12156	.|0.004;0.007	T|T	0.45556|0.45556	-0.9253|-0.9253	5|10	.|0.02654	.|T	.|1	.|.	4.2637|4.2637	0.10752|0.10752	0.3414:0.3154:0.3432:0.0|0.3414:0.3154:0.3432:0.0	.|.	.|64;64	.|P50452;Q8N178	.|SPB8_HUMAN;.	K|E	6|64	.|ENSP00000381072:G64E;ENSP00000331368:G64E;ENSP00000381075:G64E;ENSP00000414580:G64E;ENSP00000393456:G64E	.|ENSP00000331368:G64E	E|G	+|+	1|2	0|0	SERPINB8|SERPINB8	59798037|59798037	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.047000|0.047000	0.14425|0.14425	0.455000|0.455000	0.21843|0.21843	0.215000|0.215000	0.20761|0.20761	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.433	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1		NM_001031848		33	108	0	0	0	0.003755	0	33	108		
PARD6G	84552	broad.mit.edu	37	18	77917935	77917935	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:77917935C>T	ENST00000353265.3	-	3	1047	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	284					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTGCAGGACGCGCGGGGCG	0.731																																						uc002lny.2		NaN																	0					0						c.(850-852)GTC>ATC		PAR-6 gamma protein							12.0	14.0	13.0					18																	77917935		2166	4208	6374	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77917935C>T		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.850G>A	18.37:g.77917935C>T	ENSP00000343144:p.Val284Ile					LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	p.V284I	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	1016	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	284					A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.850G>A	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	C	3.805	-0.040982	0.07452	.	.	ENSG00000178184	ENST00000353265	T	0.11169	2.8	4.72	2.9	0.33743	.	0.850787	0.10590	N	0.656876	T	0.07413	0.0187	N	0.21097	0.63	0.09310	N	0.999998	B	0.15141	0.012	B	0.04013	0.001	T	0.41980	-0.9478	9	.	.	.	-16.0318	8.0225	0.30417	0.0:0.6122:0.3031:0.0848	.	284	Q9BYG4	PAR6G_HUMAN	I	284	ENSP00000343144:V284I	.	V	-	1	0	PARD6G	76018926	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-0.087000	0.11215	0.572000	0.29383	-0.252000	0.11476	GTC		0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2		NM_032510		5	18	0	0	0	0.000602	0	5	18		
ABCA7	10347	broad.mit.edu	37	19	1043124	1043124	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1043124G>A	ENST00000263094.6	+	8	895	c.664G>A	c.(664-666)Gag>Aag	p.E222K	ABCA7_ENST00000433129.1_Missense_Mutation_p.E222K|ABCA7_ENST00000435683.2_Missense_Mutation_p.E84K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	222					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTGTCAGAGGCCCTCTG	0.657																																						uc002lqw.3		NaN																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(664-666)GAG>AAG		ATP-binding cassette, sub-family A, member 7							36.0	41.0	40.0					19																	1043124		2201	4299	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043124G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.664G>A	19.37:g.1043124G>A	ENSP00000263094:p.Glu222Lys					ABCA7_uc010dsb.1_Missense_Mutation_p.E84K	p.E222K	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	8	895	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	222			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.664G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249552	0.22880	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86030	-2.06;-2.06	4.1	2.91	0.33838	.	.	.	.	.	T	0.78842	0.4347	L	0.54323	1.7	0.09310	N	1	B;B	0.33807	0.426;0.053	B;B	0.32090	0.14;0.019	T	0.65199	-0.6226	9	0.20519	T	0.43	.	8.8207	0.35025	0.0:0.3072:0.6928:0.0	.	84;222	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	K	222	ENSP00000263094:E222K;ENSP00000414062:E222K	ENSP00000263094:E222K	E	+	1	0	ABCA7	994124	0.014000	0.17966	0.318000	0.25279	0.031000	0.12232	2.142000	0.42177	2.019000	0.59389	0.313000	0.20887	GAG		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		NM_019112		15	68	0	0	0	0.003163	0	15	68		
HMHA1	23526	broad.mit.edu	37	19	1068607	1068607	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:1068607G>A	ENST00000313093.2	+	2	516	c.285G>A	c.(283-285)ctG>ctA	p.L95L	HMHA1_ENST00000590214.1_Silent_p.L122L|HMHA1_ENST00000539243.2_Silent_p.L111L|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000586866.1_Silent_p.L99L|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	95					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCCACTGACAGCCGCCA	0.741																																						uc002lqz.1		NaN																	0				lung(1)	1						c.(283-285)CTG>CTA		minor histocompatibility antigen HA-1							11.0	12.0	12.0					19																	1068607		2106	4110	6216	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068607G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.285G>A	19.37:g.1068607G>A						HMHA1_uc010xgd.1_Silent_p.L111L|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	p.L95L	NM_012292	NP_036424	Q92619	HMHA1_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)	2	516	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	95					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.285G>A	CCDS32863.1																																																																																				0.741	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1				8	30	0	0	0	0.00308	0	8	30		
ZNF555	148254	broad.mit.edu	37	19	2853858	2853858	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2853858C>T	ENST00000334241.4	+	4	1933	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P598S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGTAGGACATCCTCCTGCAAA	0.388																																						uc002lwo.2		NaN																	0				ovary(1)	1						c.(1795-1797)CCT>TCT		zinc finger protein 555							96.0	90.0	92.0					19																	2853858		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853858C>T	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1795C>T	19.37:g.2853858C>T	ENSP00000334853:p.Pro599Ser					ZNF555_uc002lwn.3_Missense_Mutation_p.P598S	p.P599S	NM_152791	NP_690004	Q8NEP9	ZN555_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)	4	1884	+			599					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1795C>T	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	1.808	-0.475384	0.04414	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.05996	3.36	2.52	-2.7	0.06004	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41875	-0.9484	9	0.54805	T	0.06	.	4.0332	0.09717	0.0:0.3331:0.1852:0.4817	.	599;598	Q8NEP9;A8KA89	ZN555_HUMAN;.	S	599;514	ENSP00000334853:P599S	ENSP00000334853:P599S	P	+	1	0	ZNF555	2804858	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.077000	0.11394	-0.657000	0.05373	-0.221000	0.12465	CCT		0.388	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		15	87	0	0	0	0.004007	0	15	87		
ZNF556	80032	broad.mit.edu	37	19	2873567	2873567	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:2873567G>C	ENST00000307635.2	+	2	164	c.77G>C	c.(76-78)aGa>aCa	p.R26T	ZNF556_ENST00000586426.1_Missense_Mutation_p.R26T|AC006130.1_ENST00000579582.1_RNA	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CCTGCTCAGAGAAAACTCTAC	0.438																																						uc002lwp.1		NaN																	0				skin(3)	3						c.(76-78)AGA>ACA		zinc finger protein 556							181.0	164.0	169.0					19																	2873567		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2873567G>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.77G>C	19.37:g.2873567G>C	ENSP00000302603:p.Arg26Thr					ZNF556_uc002lwq.2_Missense_Mutation_p.R26T	p.R26T	NM_024967	NP_079243	Q9HAH1	ZN556_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)	2	164	+			26			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.77G>C	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	8.987	0.976824	0.18812	.	.	ENSG00000172000	ENST00000307635	T	0.03004	4.08	2.55	0.217	0.15264	Krueppel-associated box (4);	.	.	.	.	T	0.21841	0.0526	H	0.96662	3.86	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.04191	-1.0970	9	0.87932	D	0	.	5.1166	0.14838	0.4726:0.0:0.5274:0.0	.	26	Q9HAH1	ZN556_HUMAN	T	26	ENSP00000302603:R26T	ENSP00000302603:R26T	R	+	2	0	ZNF556	2824567	0.746000	0.28272	0.193000	0.23327	0.162000	0.22319	0.732000	0.26072	0.275000	0.22094	0.407000	0.27541	AGA		0.438	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2		NM_024967		30	93	0	0	0	0.008361	0	30	93		
CHAF1A	10036	broad.mit.edu	37	19	4408975	4408975	+	Missense_Mutation	SNP	C	C	T	rs371002759		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4408975C>T	ENST00000301280.5	+	3	280	c.179C>T	c.(178-180)tCt>tTt	p.S60F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	60	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTACTTCTGTGCAAAGT	0.473								Chromatin Structure																														uc002mal.2		NaN																	0				ovary(1)|skin(1)	2						c.(178-180)TCT>TTT	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)		C	PHE/SER	0,4406		0,0,2203	135.0	136.0	136.0		179	5.1	0.0	19		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHAF1A	NM_005483.2	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	60/957	4408975	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4408975C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.179C>T	19.37:g.4408975C>T	ENSP00000301280:p.Ser60Phe						p.S60F	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	279	+		Hepatocellular(1079;0.137)	60			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.179C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304385	0.40795	0.0	1.16E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.52983	0.64	5.13	5.13	0.70059	.	.	.	.	.	T	0.38585	0.1046	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28964	-1.0027	9	0.87932	D	0	-0.0974	11.0425	0.47840	0.0:0.9048:0.0:0.0952	.	60	Q13111	CAF1A_HUMAN	F	60	ENSP00000301280:S60F	ENSP00000301280:S60F	S	+	2	0	CHAF1A	4359975	0.010000	0.17322	0.004000	0.12327	0.030000	0.12068	2.176000	0.42500	2.374000	0.81015	0.561000	0.74099	TCT		0.473	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483		69	145	0	0	0	0.00361	0	69	145		
UBXN6	80700	broad.mit.edu	37	19	4453979	4453979	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:4453979C>T	ENST00000301281.6	-	2	319	c.195G>A	c.(193-195)caG>caA	p.Q65Q	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_Silent_p.Q12Q	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	65						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGGACTGCTTCTGCTCCAGCC	0.672																																						uc002man.1		NaN																	0					0						c.(193-195)CAG>CAA		UBX domain protein 6							70.0	82.0	78.0					19																	4453979		2203	4300	6503	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4453979C>T	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.195G>A	19.37:g.4453979C>T						UBXN6_uc010dty.1_Silent_p.Q12Q|UBXN6_uc002mam.1_Silent_p.Q12Q	p.Q65Q	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			2	291	-			65					D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.195G>A	CCDS12129.1																																																																																				0.672	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3		NM_025241		48	127	0	0	0	0.00361	0	48	127		
RPL36	25873	broad.mit.edu	37	19	5694465	5694465	+	IGR	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:5694465G>A	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Silent_p.F687F|LONP1_ENST00000590729.1_Silent_p.F621F|LONP1_ENST00000360614.3_Silent_p.F751F|LONP1_ENST00000585374.1_Silent_p.F637F|LONP1_ENST00000540670.2_Silent_p.F555F			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GCTCCACGGTGAACACGGGCT	0.642																																						uc002mcx.2		NaN																	0					0						c.(2251-2253)TTC>TTT		mitochondrial lon peptidase 1 precursor							90.0	73.0	79.0					19																	5694465		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5694465G>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694465G>A						LONP1_uc002mcy.2_Silent_p.F687F|LONP1_uc010duh.2_Silent_p.F492F|LONP1_uc010dui.2_Silent_p.F735F|LONP1_uc002mcz.2_Silent_p.F555F	p.F751F	NM_004793	NP_004784	P36776	LONM_HUMAN			15	2286	-			751					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	37	c.2253C>T	CCDS12147.1																																																																																				0.642	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1		NM_015414		5	63	0	0	0	0.001168	0	5	63		
EMR1	2015	broad.mit.edu	37	19	6928195	6928195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:6928195C>T	ENST00000312053.4	+	17	2299	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	EMR1_ENST00000250572.8_Silent_p.F689F|EMR1_ENST00000381404.4_Silent_p.F702F|EMR1_ENST00000450315.3_Silent_p.F577F|EMR1_ENST00000381407.5_Silent_p.F613F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	754					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTGGAGTTTCTTGGGGCCAG	0.498																																						uc002mfw.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(2260-2262)TTC>TTT		egf-like module containing, mucin-like, hormone							192.0	176.0	181.0					19																	6928195		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928195C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2262C>T	19.37:g.6928195C>T						EMR1_uc010dvc.2_Silent_p.F689F|EMR1_uc010dvb.2_Silent_p.F702F|EMR1_uc010xji.1_Silent_p.F613F|EMR1_uc010xjj.1_Silent_p.F577F	p.F754F	NM_001974	NP_001965	Q14246	EMR1_HUMAN			17	2300	+	all_hematologic(4;0.166)		754			Helical; Name=5; (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2262C>T	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1				45	116	0	0	0	0.00361	0	45	116		
C19orf45	374877	broad.mit.edu	37	19	7569023	7569023	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7569023C>T	ENST00000361664.2	+	3	735	c.594C>T	c.(592-594)ctC>ctT	p.L198L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	198										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CCAACACCCTCAAGTGGGACT	0.547																																						uc002mgm.2		NaN																	0					0						c.(592-594)CTC>CTT		hypothetical protein LOC374877							46.0	42.0	43.0					19																	7569023		2203	4300	6503	SO:0001819	synonymous_variant	374877							g.chr19:7569023C>T	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.594C>T	19.37:g.7569023C>T						C19orf45_uc010xjo.1_5'Flank	p.L198L	NM_198534	NP_940936	Q8NA69	CS045_HUMAN			3	735	+			198					Q8N115	Silent	SNP	ENST00000361664.2	37	c.594C>T	CCDS12179.2																																																																																				0.547	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1		NM_198534		7	34	0	0	0	0.00308	0	7	34		
MAP2K7	5609	broad.mit.edu	37	19	7968919	7968919	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:7968919C>G	ENST00000397979.3	+	1	144	c.90C>G	c.(88-90)ctC>ctG	p.L30L	MAP2K7_ENST00000397981.3_Silent_p.L30L|AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000545011.1_Silent_p.L30L|MAP2K7_ENST00000397983.3_Silent_p.L30L|RN7SL115P_ENST00000392196.5_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	30					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGATCGACCTCAACCTGGATA	0.746																																						uc002mit.2		NaN																	0				large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(88-90)CTC>CTG		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						13.0	18.0	16.0					19																	7968919		1866	4071	5937	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7968919C>G	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.90C>G	19.37:g.7968919C>G						MAP2K7_uc002mis.1_Silent_p.L30L|MAP2K7_uc002miv.2_Silent_p.L30L|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Silent_p.L30L|MAP2K7_uc010dvv.2_5'UTR	p.L30L	NM_145185	NP_660186	O14733	MP2K7_HUMAN			1	155	+			30			Potential.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.90C>G	CCDS42491.1																																																																																				0.746	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1				8	30	0	0	0	0.004482	0	8	30		
ELAVL1	1994	broad.mit.edu	37	19	8032455	8032455	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:8032455C>G	ENST00000407627.2	-	5	779	c.650G>C	c.(649-651)aGa>aCa	p.R217T	ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000351593.5_Missense_Mutation_p.R244T|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R217T	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	217					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCACCTGAATCTCTGCGCCTG	0.622																																						uc002mjb.2		NaN																	0					0						c.(649-651)AGA>ACA		ELAV-like 1							54.0	49.0	51.0					19																	8032455		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032455C>G	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.650G>C	19.37:g.8032455C>G	ENSP00000385269:p.Arg217Thr						p.R217T	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			5	817	-			217					B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.650G>C	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362139	0.82353	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.16324	2.37;2.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.79805	2.47	0.80722	D	1	B	0.25351	0.124	B	0.19946	0.027	T	0.03335	-1.1047	10	0.72032	D	0.01	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	217	Q15717	ELAV1_HUMAN	T	217;244	ENSP00000385269:R217T;ENSP00000264073:R244T	ENSP00000264073:R244T	R	-	2	0	ELAVL1	7938455	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	AGA		0.622	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3		NM_001419		8	24	0	0	0	0.004482	0	8	24		
MUC16	94025	broad.mit.edu	37	19	9084097	9084097	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9084097G>A	ENST00000397910.4	-	1	7921	c.7718C>T	c.(7717-7719)tCt>tTt	p.S2573F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2573	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTGAAGAATGAATGGC	0.502																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7717-7719)TCT>TTT		mucin 16							189.0	185.0	187.0					19																	9084097		2034	4197	6231	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084097G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7718C>T	19.37:g.9084097G>A	ENSP00000381008:p.Ser2573Phe						p.S2573F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7922	-			2573			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7718C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.219	-0.627469	0.03610	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.225	0.225	0.15325	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45279	-0.9272	7	0.87932	D	0	.	.	.	.	.	2573	B5ME49	.	F	2573	ENSP00000381008:S2573F	ENSP00000381008:S2573F	S	-	2	0	MUC16	8945097	0.292000	0.24362	0.119000	0.21687	0.120000	0.20174	0.915000	0.28638	0.300000	0.22699	0.305000	0.20034	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		28	102	0	0	0	0.00632	0	28	102		
MUC16	94025	broad.mit.edu	37	19	9086405	9086405	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9086405C>T	ENST00000397910.4	-	1	5613	c.5410G>A	c.(5410-5412)Gaa>Aaa	p.E1804K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1804	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGTATTTTCAGTGCTTCCC	0.463																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(5410-5412)GAA>AAA		mucin 16							148.0	143.0	145.0					19																	9086405		1913	4124	6037	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086405C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5410G>A	19.37:g.9086405C>T	ENSP00000381008:p.Glu1804Lys						p.E1804K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5614	-			1804			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5410G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.582	0.108100	0.08780	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.02	-0.217	0.13149	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.43701	0.815	B	0.34418	0.182	T	0.47045	-0.9147	8	0.87932	D	0	.	3.5044	0.07685	0.0:0.6996:0.0:0.3004	.	1804	B5ME49	.	K	1804	ENSP00000381008:E1804K	ENSP00000381008:E1804K	E	-	1	0	MUC16	8947405	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.836000	0.04382	-0.032000	0.13758	0.305000	0.20034	GAA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		27	69	0	0	0	0.004656	0	27	69		
MUC16	94025	broad.mit.edu	37	19	9090786	9090786	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:9090786G>C	ENST00000397910.4	-	1	1232	c.1029C>G	c.(1027-1029)gtC>gtG	p.V343V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	343	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGCTTCTGACCCTTTCGG	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1027-1029)GTC>GTG		mucin 16							102.0	100.0	101.0					19																	9090786		2059	4199	6258	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090786G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1029C>G	19.37:g.9090786G>C							p.V343V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1233	-			343			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1029C>G	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		16	51	0	0	0	0.003163	0	16	51		
DNMT1	1786	broad.mit.edu	37	19	10250949	10250949	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10250949G>A	ENST00000340748.4	-	32	3766	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	DNMT1_ENST00000540357.1_Silent_p.F1177F|DNMT1_ENST00000359526.4_Silent_p.F1193F|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1177	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGTTCAGCCGGAACGCCTGGG	0.612																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3529-3531)TTC>TTT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						45.0	49.0	48.0					19																	10250949		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10250949G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3531C>T	19.37:g.10250949G>A						DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.F101F|DNMT1_uc010xlc.1_Silent_p.F1193F|DNMT1_uc002mnh.2_Silent_p.F1072F|DNMT1_uc010xld.1_Silent_p.F1177F	p.F1177F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		32	3711	-			1177			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.3531C>T	CCDS12228.1																																																																																				0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		17	55	0	0	0	0.00499	0	17	55		
S1PR2	9294	broad.mit.edu	37	19	10335096	10335096	+	Silent	SNP	G	G	A	rs375693128		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10335096G>A	ENST00000590320.1	-	2	596	c.486C>T	c.(484-486)ctC>ctT	p.L162L	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	162					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAGGCCACCGAGGACCAGCG	0.627																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(484-486)CTC>CTT		endothelial differentiation, sphingolipid		G		0,4406		0,0,2203	61.0	57.0	58.0		486	-10.9	0.0	19		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	S1PR2	NM_004230.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		162/354	10335096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335096G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.486C>T	19.37:g.10335096G>A							p.L162L	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	597	-			162			Helical; Name=4; (By similarity).		Q86UN8	Silent	SNP	ENST00000590320.1	37	c.486C>T	CCDS12229.1																																																																																				0.627	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1		NM_004230		22	54	0	0	0	0.002299	0	22	54		
TYK2	7297	broad.mit.edu	37	19	10461569	10461569	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:10461569G>A	ENST00000525621.1	-	25	3986	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	TYK2_ENST00000524462.1_Silent_p.L984L|TYK2_ENST00000264818.6_Silent_p.L1169L|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1169	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACTGTCTTCAGAATGGGTATG	0.557																																						uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(3505-3507)CTG>TTG		tyrosine kinase 2							107.0	96.0	100.0					19																	10461569		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10461569G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3505C>T	19.37:g.10461569G>A						TYK2_uc010dxe.2_Silent_p.L984L	p.L1169L	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		25	3883	-			1169			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.3505C>T	CCDS12236.1																																																																																				0.557	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				23	80	0	0	0	0.00278	0	23	80		
SMARCA4	6597	broad.mit.edu	37	19	11121153	11121153	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121153G>A	ENST00000429416.3	+	16	2501	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	SMARCA4_ENST00000358026.2_Silent_p.E740E|SMARCA4_ENST00000590574.1_Silent_p.E740E|SMARCA4_ENST00000541122.2_Silent_p.E740E|SMARCA4_ENST00000450717.3_Silent_p.E740E|SMARCA4_ENST00000589677.1_Silent_p.E740E|SMARCA4_ENST00000444061.3_Silent_p.E740E|SMARCA4_ENST00000413806.3_Silent_p.E740E|SMARCA4_ENST00000344626.4_Silent_p.E740E|RN7SL192P_ENST00000584303.1_RNA|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	740					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGTCACTGAGAGAGTGGACA	0.587			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2218-2220)GAG>GAA		SWI/SNF-related matrix-associated							179.0	140.0	153.0					19																	11121153		2203	4300	6503	SO:0001819	synonymous_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11121153G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2220G>A	19.37:g.11121153G>A						SMARCA4_uc010dxp.2_Silent_p.E740E|SMARCA4_uc010dxo.2_Silent_p.E740E|SMARCA4_uc002mqg.1_Silent_p.E740E|SMARCA4_uc010dxq.2_Silent_p.E740E|SMARCA4_uc010dxr.2_Silent_p.E740E|SMARCA4_uc002mqj.3_Silent_p.E740E|SMARCA4_uc010dxs.2_Silent_p.E740E|SMARCA4_uc010dxt.1_5'Flank	p.E740E	NM_003072	NP_003063	P51532	SMCA4_HUMAN			15	2504	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	740					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.2220G>A	CCDS12253.1																																																																																				0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		32	76	0	0	0	0.002445	0	32	76		
SMARCA4	6597	broad.mit.edu	37	19	11121155	11121155	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11121155G>A	ENST00000429416.3	+	16	2503	c.2222G>A	c.(2221-2223)aGa>aAa	p.R741K	SMARCA4_ENST00000358026.2_Missense_Mutation_p.R741K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R741K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R741K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R741K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R741K|RN7SL192P_ENST00000584303.1_RNA|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	741					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTCACTGAGAGAGTGGACAAG	0.582			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2221-2223)AGA>AAA		SWI/SNF-related matrix-associated							181.0	141.0	155.0					19																	11121155		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11121155G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2222G>A	19.37:g.11121155G>A	ENSP00000395654:p.Arg741Lys					SMARCA4_uc010dxp.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxo.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqg.1_Missense_Mutation_p.R741K|SMARCA4_uc010dxq.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxr.2_Missense_Mutation_p.R741K|SMARCA4_uc002mqj.3_Missense_Mutation_p.R741K|SMARCA4_uc010dxs.2_Missense_Mutation_p.R741K|SMARCA4_uc010dxt.1_5'Flank	p.R741K	NM_003072	NP_003063	P51532	SMCA4_HUMAN			15	2506	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	741					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2222G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343573	0.24339	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.89	4.89	0.63831	.	0.058686	0.64402	D	0.000002	T	0.74045	0.3665	N	0.00514	-1.41	0.28923	N	0.892026	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.002;0.001;0.001	T	0.64487	-0.6396	10	0.02654	T	1	-21.4851	10.5595	0.45138	0.0896:0.0:0.9104:0.0	.	741;741;741;741;741;741;741	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	741;741;805;741;741;741;741;741	ENSP00000395654:R741K;ENSP00000350720:R741K;ENSP00000343896:R741K;ENSP00000445036:R741K;ENSP00000392837:R741K;ENSP00000397783:R741K;ENSP00000414727:R741K	ENSP00000343896:R741K	R	+	2	0	SMARCA4	10982155	0.915000	0.31059	0.960000	0.40013	0.977000	0.68977	4.848000	0.62874	2.538000	0.85594	0.561000	0.74099	AGA		0.582	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		33	77	0	0	0	0.002836	0	33	77		
KANK2	25959	broad.mit.edu	37	19	11277264	11277264	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11277264C>G	ENST00000586659.1	-	13	2840	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D	KANK2_ENST00000589359.1_Missense_Mutation_p.E850D|KANK2_ENST00000432929.2_Missense_Mutation_p.E850D|KANK2_ENST00000355150.5_Missense_Mutation_p.E842D|KANK2_ENST00000587317.1_5'UTR			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	842					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGTAGGGCTCTCGTCATCTG	0.587																																						uc010dxv.2		NaN																	0					0						c.(2524-2526)GAG>GAC		ankyrin repeat domain 25 isoform 1							124.0	110.0	115.0					19																	11277264		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11277264C>G	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2526G>C	19.37:g.11277264C>G	ENSP00000465650:p.Glu842Asp					KANK2_uc002mqm.2_Missense_Mutation_p.E850D|KANK2_uc002mqo.3_Missense_Mutation_p.E842D	p.E842D	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			15	3084	-			842					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.2526G>C	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329217	0.41197	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39056	1.1;1.12	3.11	0.721	0.18219	.	0.597988	0.16146	N	0.227512	T	0.37945	0.1022	N	0.22421	0.69	0.28695	N	0.904385	P;D	0.56035	0.915;0.974	P;D	0.67725	0.723;0.953	T	0.29366	-1.0014	10	0.13108	T	0.6	-23.7638	4.6485	0.12584	0.0:0.6193:0.0:0.3807	.	842;850	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	D	850;842	ENSP00000395650:E850D;ENSP00000347276:E842D	ENSP00000347276:E842D	E	-	3	2	KANK2	11138264	0.458000	0.25760	0.972000	0.41901	0.596000	0.36781	-0.035000	0.12205	0.227000	0.20999	0.467000	0.42956	GAG		0.587	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2		NM_015493		11	71	0	0	0	0.001368	0	11	71		
ZNF441	126068	broad.mit.edu	37	19	11892012	11892012	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892012C>G	ENST00000357901.4	+	4	1475	c.1373C>G	c.(1372-1374)tCt>tGt	p.S458C	ZNF441_ENST00000454339.2_Missense_Mutation_p.S391C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTTCAGGTCTTCCAATTAC	0.398																																						uc010dyj.2		NaN																	0				ovary(1)	1						c.(1372-1374)TCT>TGT		zinc finger protein 441							53.0	56.0	55.0					19																	11892012		2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892012C>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1373C>G	19.37:g.11892012C>G	ENSP00000350576:p.Ser458Cys					ZNF441_uc002msn.3_Missense_Mutation_p.S414C	p.S458C	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1567	+			458			C2H2-type 11.			Missense_Mutation	SNP	ENST00000357901.4	37	c.1373C>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	5.189	0.220492	0.09863	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07688	3.17;3.17	1.22	-2.44	0.06502	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.41415	1.275	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35871	-0.9771	9	0.37606	T	0.19	.	5.5922	0.17307	0.2876:0.5229:0.1895:0.0	.	458	Q8N8Z8	ZN441_HUMAN	C	414;458;391	ENSP00000350576:S458C;ENSP00000403738:S391C	ENSP00000350576:S458C	S	+	2	0	ZNF441	11753012	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-8.307000	0.00022	-1.155000	0.02822	0.305000	0.20034	TCT		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355		28	43	0	0	0	0.005443	0	28	43		
ZNF441	126068	broad.mit.edu	37	19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:11892189C>T	ENST00000357901.4	+	4	1652	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517					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.S517L(1)|p.S450L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCCCAGTTCATTTCGAAGA	0.398																																						uc010dyj.2		NaN																	2	Substitution - Missense(2)		prostate(2)	ovary(1)	1						c.(1549-1551)TCA>TTA		zinc finger protein 441							72.0	73.0	73.0					19																	11892189		2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892189C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1550C>T	19.37:g.11892189C>T	ENSP00000350576:p.Ser517Leu					ZNF441_uc002msn.3_Missense_Mutation_p.S473L	p.S517L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1744	+			517			C2H2-type 13.			Missense_Mutation	SNP	ENST00000357901.4	37	c.1550C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.04	2.418015	0.42918	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15718	2.4;2.4	1.22	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.28776	0.89	0.09310	N	1	P	0.47841	0.901	B	0.41088	0.347	T	0.24512	-1.0158	9	0.36615	T	0.2	.	8.2743	0.31864	0.7554:0.2446:0.0:0.0	.	517	Q8N8Z8	ZN441_HUMAN	L	473;517;450	ENSP00000350576:S517L;ENSP00000403738:S450L	ENSP00000350576:S517L	S	+	2	0	ZNF441	11753189	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	-0.998000	0.03701	-0.425000	0.07371	0.305000	0.20034	TCA		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355		32	61	0	0	0	0.001786	0	32	61		
ZNF433	163059	broad.mit.edu	37	19	12125889	12125889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12125889G>C	ENST00000344980.6	-	4	1963	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	ZNF433_ENST00000419886.2_Missense_Mutation_p.S563C|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ACATCCAAAAGACTTCCCACA	0.468																																						uc002msy.1		NaN																	0					0						c.(1792-1794)TCT>TGT		zinc finger protein 433							103.0	108.0	106.0					19																	12125889		2202	4299	6501	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125889G>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1793C>G	19.37:g.12125889G>C	ENSP00000339767:p.Ser598Cys					uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.S563C	p.S598C	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1964	-			598			C2H2-type 17.		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1793C>G	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.186158	0.21870	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.36699	1.24;1.24	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	L	0.52126	1.63	0.09310	N	1	B	0.29805	0.257	B	0.30572	0.117	T	0.32929	-0.9888	9	0.87932	D	0	.	6.8621	0.24072	0.0:0.5095:0.4905:0.0	.	598	Q8N7K0	ZN433_HUMAN	C	563;598	ENSP00000393416:S563C;ENSP00000339767:S598C	ENSP00000339767:S598C	S	-	2	0	ZNF433	11986889	0.000000	0.05858	0.009000	0.14445	0.417000	0.31264	-0.447000	0.06828	1.062000	0.40625	0.298000	0.19748	TCT		0.468	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1		NM_152602		30	125	0	0	0	0.001786	0	30	125		
ZNF433	163059	broad.mit.edu	37	19	12126042	12126042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12126042G>T	ENST00000344980.6	-	4	1810	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	ZNF433_ENST00000419886.2_Nonsense_Mutation_p.S512*|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TTGAAGCTGTGAGGCAGATCT	0.453																																						uc002msy.1		NaN																	0					0						c.(1639-1641)TCA>TAA		zinc finger protein 433							100.0	103.0	102.0					19																	12126042		2203	4299	6502	SO:0001587	stop_gained	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126042G>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1640C>A	19.37:g.12126042G>T	ENSP00000339767:p.Ser547*					uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.S512*	p.S547*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1811	-			547			C2H2-type 15.		Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	37	c.1640C>A	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228682	0.95173	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.18	-0.0514	0.13827	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6456	0.34003	0.0:0.4998:0.5002:0.0	.	.	.	.	X	512;547	.	ENSP00000339767:S547X	S	-	2	0	ZNF433	11987042	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-0.281000	0.08456	0.040000	0.15660	0.298000	0.19748	TCA		0.453	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1		NM_152602		30	112	1	0	2.4375e-19	0.007291	3.08979e-19	30	112		
ZNF791	163049	broad.mit.edu	37	19	12739289	12739289	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12739289C>G	ENST00000343325.4	+	4	1108	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.Q207E|ZNF791_ENST00000458122.3_Missense_Mutation_p.Q284E|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CACCTCCATTCAAATTCATGA	0.393																																						uc002mua.2		NaN																	0				ovary(2)	2						c.(946-948)CAA>GAA		zinc finger protein 791							46.0	50.0	48.0					19																	12739289		2202	4299	6501	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739289C>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.946C>G	19.37:g.12739289C>G	ENSP00000342974:p.Gln316Glu					ZNF791_uc010xml.1_Missense_Mutation_p.Q284E|ZNF791_uc010dyu.1_Missense_Mutation_p.Q207E|ZNF791_uc010xmm.1_Missense_Mutation_p.Q207E	p.Q316E	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1108	+			316			C2H2-type 8.		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.946C>G	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284741	0.05605	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07216	3.21;3.21;3.21	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.33485	1.01	0.09310	N	1	P	0.44986	0.847	P	0.46510	0.519	T	0.21793	-1.0235	9	0.10377	T	0.69	.	4.6414	0.12550	0.372:0.628:0.0:0.0	.	316	Q3KP31	ZN791_HUMAN	E	316;298;284;207	ENSP00000342974:Q316E;ENSP00000441761:Q284E;ENSP00000441038:Q207E	ENSP00000342974:Q316E	Q	+	1	0	ZNF791	12600289	0.000000	0.05858	0.340000	0.25575	0.864000	0.49448	-0.593000	0.05740	1.007000	0.39238	0.491000	0.48974	CAA		0.393	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358		11	54	0	0	0	0.001855	0	11	54		
JUNB	3726	broad.mit.edu	37	19	12903392	12903392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:12903392C>G	ENST00000302754.4	+	1	1083	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	269	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AAGAGCGCATCAAAGTGGAGC	0.682																																						uc002mvc.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(805-807)ATC>ATG		jun B proto-oncogene							8.0	9.0	9.0					19																	12903392		2130	4221	6351	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903392C>G	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.807C>G	19.37:g.12903392C>G	ENSP00000303315:p.Ile269Met					JUNB_uc002mvb.2_RNA	p.I269M	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	1083	+			269					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.807C>G	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714701	0.68730	.	.	ENSG00000171223	ENST00000302754	T	0.56275	0.47	4.02	2.98	0.34508	Basic-leucine zipper (bZIP) transcription factor (2);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.72128	0.3422	M	0.84585	2.705	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.74423	-0.3670	10	0.87932	D	0	-10.3219	10.3205	0.43762	0.0:0.8996:0.0:0.1004	.	269	P17275	JUNB_HUMAN	M	269	ENSP00000303315:I269M	ENSP00000303315:I269M	I	+	3	3	JUNB	12764392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.853000	0.55941	0.684000	0.31448	0.448000	0.29417	ATC		0.682	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1		NM_002229		2	8	0	0	0	0.004672	0	2	8		
GCDH	2639	broad.mit.edu	37	19	13007200	13007200	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13007200G>C	ENST00000222214.5	+	8	1028	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	GCDH_ENST00000457854.1_Missense_Mutation_p.E273Q|GCDH_ENST00000591470.1_Missense_Mutation_p.E273Q|GCDH_ENST00000422947.2_Missense_Mutation_p.E229Q			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	273					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GGAGGTGCCAGAGGAGAATGT	0.632																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2		NaN																	0					0						c.(817-819)GAG>CAG		glutaryl-Coenzyme A dehydrogenase isoform a							62.0	58.0	59.0					19																	13007200		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13007200G>C	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.817G>C	19.37:g.13007200G>C	ENSP00000222214:p.Glu273Gln					GCDH_uc010xms.1_Missense_Mutation_p.E240Q|GCDH_uc002mvp.2_Missense_Mutation_p.E273Q|GCDH_uc010xmt.1_Missense_Mutation_p.E107Q|GCDH_uc010xmu.1_Missense_Mutation_p.E229Q	p.E273Q	NM_000159	NP_000150	Q92947	GCDH_HUMAN			8	894	+			273					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.817G>C	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099763	0.37048	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.98947	-5.26;-5.26;-5.26	5.65	5.65	0.86999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.049098	0.85682	D	0.000000	D	0.97736	0.9257	M	0.68317	2.08	0.58432	D	0.999999	B;B;B;B;B	0.33904	0.369;0.431;0.085;0.065;0.208	B;B;B;B;B	0.34824	0.073;0.083;0.115;0.032;0.19	D	0.97637	1.0146	10	0.62326	D	0.03	.	17.5856	0.87980	0.0:0.0:1.0:0.0	.	229;109;240;273;273	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	Q	273;273;240;229	ENSP00000394872:E273Q;ENSP00000222214:E273Q;ENSP00000394821:E229Q	ENSP00000222214:E273Q	E	+	1	0	GCDH	12868200	1.000000	0.71417	0.971000	0.41717	0.017000	0.09413	5.355000	0.66046	2.824000	0.97209	0.655000	0.94253	GAG		0.632	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1				5	35	0	0	0	0.001984	0	5	35		
TRMT1	55621	broad.mit.edu	37	19	13218411	13218411	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:13218411G>A	ENST00000592062.1	-	15	2130	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	TRMT1_ENST00000357720.4_Silent_p.F520F|TRMT1_ENST00000221504.8_Silent_p.F491F|TRMT1_ENST00000437766.1_Silent_p.F520F			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	520							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGAGAATGCGGAACGCTGGGC	0.582																																						uc002mwj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1558-1560)TTC>TTT		tRNA methyltransferase 1 isoform 1							60.0	37.0	45.0					19																	13218411		2203	4299	6502	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13218411G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1560C>T	19.37:g.13218411G>A						TRMT1_uc010xmy.1_Silent_p.F124F|TRMT1_uc002mwk.2_Silent_p.F491F|TRMT1_uc002mwl.3_Silent_p.F520F|TRMT1_uc010xmz.1_Silent_p.F306F	p.F520F	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	13	1810	-			520					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1560C>T	CCDS12293.1																																																																																				0.582	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2		NM_017722		8	11	0	0	0	0.006214	0	8	11		
BRD4	23476	broad.mit.edu	37	19	15349940	15349940	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15349940C>T	ENST00000263377.2	-	18	3933	c.3712G>A	c.(3712-3714)Gag>Aag	p.E1238K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1238	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGCCTTCTCACGCTCCTCT	0.662			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NaN		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(3712-3714)GAG>AAG		bromodomain-containing protein 4 isoform long							28.0	30.0	29.0					19																	15349940		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349940C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3712G>A	19.37:g.15349940C>T	ENSP00000263377:p.Glu1238Lys						p.E1238K	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		18	3934	-			1238					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3712G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	17.69	3.451153	0.63290	.	.	ENSG00000141867	ENST00000263377	T	0.02682	4.2	4.76	4.76	0.60689	.	0.000000	0.53938	D	0.000055	T	0.11239	0.0274	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.03175	-1.1064	10	0.48119	T	0.1	-27.219	16.5687	0.84605	0.0:1.0:0.0:0.0	.	1238	O60885	BRD4_HUMAN	K	1238	ENSP00000263377:E1238K	ENSP00000263377:E1238K	E	-	1	0	BRD4	15210940	1.000000	0.71417	0.933000	0.37362	0.921000	0.55340	7.314000	0.78988	2.172000	0.68678	0.550000	0.68814	GAG		0.662	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243		12	11	0	0	0	0.001368	0	12	11		
CYP4F3	4051	broad.mit.edu	37	19	15760750	15760750	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:15760750C>G	ENST00000221307.8	+	7	722	c.675C>G	c.(673-675)atC>atG	p.I225M	CYP4F3_ENST00000586182.2_Missense_Mutation_p.I225M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.I225M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.I225M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	225					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTGCCGCCATCTTGGAGCTCA	0.522																																						uc002nbj.2		NaN																	0				ovary(3)	3						c.(673-675)ATC>ATG		cytochrome P450, family 4, subfamily F,							145.0	138.0	140.0					19																	15760750		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760750C>G	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.675C>G	19.37:g.15760750C>G	ENSP00000221307:p.Ile225Met					CYP4F3_uc010xok.1_Missense_Mutation_p.I225M|CYP4F3_uc010xol.1_Missense_Mutation_p.I225M|CYP4F3_uc010xom.1_Missense_Mutation_p.I76M|CYP4F3_uc002nbk.2_Missense_Mutation_p.I225M|CYP4F3_uc010xon.1_5'Flank	p.I225M	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			7	725	+			225					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.675C>G	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.559945	0.45590	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.70164	-0.46	3.99	-1.52	0.08637	.	0.071517	0.53938	U	0.000056	T	0.75845	0.3905	M	0.85299	2.745	0.36605	D	0.874901	D;P	0.57257	0.979;0.935	D;D	0.66979	0.928;0.948	T	0.74595	-0.3613	10	0.87932	D	0	.	3.9238	0.09254	0.476:0.3317:0.0:0.1922	.	225;225	B7Z8Z3;Q08477	.;CP4F3_HUMAN	M	152;225	ENSP00000221307:I225M	ENSP00000221307:I225M	I	+	3	3	CYP4F3	15621750	0.628000	0.27138	0.601000	0.28877	0.882000	0.50991	0.655000	0.24933	-0.118000	0.11851	0.313000	0.20887	ATC		0.522	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3		NM_000896		63	221	0	0	0	0.00361	0	63	221		
GTPBP3	84705	broad.mit.edu	37	19	17452360	17452360	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17452360G>A	ENST00000324894.8	+	9	1395	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	GTPBP3_ENST00000600625.1_Missense_Mutation_p.D422N|GTPBP3_ENST00000361619.5_Missense_Mutation_p.D465N|GTPBP3_ENST00000358792.7_Missense_Mutation_p.D475N|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	443					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGGTTGCCTGGATGCCCTCGG	0.667																																						uc010eas.2		NaN																	0				skin(1)	1						c.(1327-1329)GAT>AAT		GTP binding protein 3 (mitochondrial) isoform V							42.0	47.0	45.0					19																	17452360		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452360G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1327G>A	19.37:g.17452360G>A	ENSP00000313818:p.Asp443Asn					GTPBP3_uc010xpo.1_Missense_Mutation_p.D465N|GTPBP3_uc002ngh.3_Missense_Mutation_p.D422N|GTPBP3_uc002ngg.3_Missense_Mutation_p.D475N|GTPBP3_uc002ngi.3_Missense_Mutation_p.D109N	p.D443N	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN			9	1392	+			443					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1327G>A	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234738	0.22626	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.29397	1.57;1.57;1.57	5.5	2.23	0.28157	.	0.318285	0.36268	N	0.002682	T	0.23210	0.0561	L	0.28192	0.835	0.27175	N	0.960801	B;B;B;P	0.48694	0.055;0.055;0.045;0.914	B;B;B;P	0.46543	0.065;0.065;0.026;0.52	T	0.09143	-1.0688	10	0.27082	T	0.32	-8.7971	9.2632	0.37625	0.239:0.0:0.761:0.0	.	465;443;422;475	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	N	465;443;475	ENSP00000354598:D465N;ENSP00000313818:D443N;ENSP00000351644:D475N	ENSP00000313818:D443N	D	+	1	0	GTPBP3	17313360	1.000000	0.71417	0.982000	0.44146	0.078000	0.17371	4.644000	0.61397	0.299000	0.22661	-0.997000	0.02515	GAT		0.667	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1		NM_032620		11	72	0	0	0	0.008291	0	11	72		
PGLS	25796	broad.mit.edu	37	19	17631815	17631815	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17631815G>A	ENST00000252603.2	+	5	746	c.702G>A	c.(700-702)ggG>ggA	p.G234G	FAM129C_ENST00000332386.5_5'Flank|CTD-3131K8.3_ENST00000596192.1_RNA|FAM129C_ENST00000335393.4_5'Flank|FAM129C_ENST00000352727.3_5'Flank|FAM129C_ENST00000595684.1_5'Flank|FAM129C_ENST00000300971.2_5'Flank	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	234					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CCCACACCGGGAAACTGTGCT	0.652																																						uc002ngw.2		NaN																	0					0						c.(700-702)GGG>GGA		6-phosphogluconolactonase							24.0	24.0	24.0					19																	17631815		2201	4295	6496	SO:0001819	synonymous_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17631815G>A	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.702G>A	19.37:g.17631815G>A						FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	p.G234G	NM_012088	NP_036220	O95336	6PGL_HUMAN			5	752	+			234						Silent	SNP	ENST00000252603.2	37	c.702G>A	CCDS12361.1																																																																																				0.652	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1				5	9	0	0	0	0.000602	0	5	9		
MAP1S	55201	broad.mit.edu	37	19	17838864	17838864	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:17838864G>A	ENST00000324096.4	+	5	2822	c.2671G>A	c.(2671-2673)Ggt>Agt	p.G891S	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.G865S|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	891	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGGGCTTGCTGGTGGGGACCG	0.682																																						uc002nhe.1		NaN																	0				central_nervous_system(1)	1						c.(2671-2673)GGT>AGT		BPY2 interacting protein 1							9.0	11.0	11.0					19																	17838864		2087	4130	6217	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838864G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2671G>A	19.37:g.17838864G>A	ENSP00000325313:p.Gly891Ser					MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.G139S|MAP1S_uc010xpv.1_Missense_Mutation_p.G865S	p.G891S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2680	+			891			Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2671G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322581	0.05350	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.15256	2.44;2.44	4.68	-6.9	0.01655	.	0.969175	0.08403	N	0.951187	T	0.05318	0.0141	N	0.02539	-0.55	0.09310	N	1	B;B	0.21753	0.019;0.06	B;B	0.17722	0.011;0.019	T	0.47058	-0.9146	10	0.13853	T	0.58	-0.7899	11.5299	0.50601	0.6667:0.0:0.3333:0.0	.	865;891	B4DH53;Q66K74	.;MAP1S_HUMAN	S	891;865	ENSP00000325313:G891S;ENSP00000439243:G865S	ENSP00000325313:G891S	G	+	1	0	MAP1S	17699864	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.754000	0.04787	-1.060000	0.03189	-0.793000	0.03317	GGT		0.682	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1		NM_018174		10	26	0	0	0	0.008291	0	10	26		
UBA52	7311	broad.mit.edu	37	19	18684102	18684102	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:18684102G>A	ENST00000442744.2	+	2	50		c.e2-1		UBA52_ENST00000595683.1_Splice_Site|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Splice_Site|UBA52_ENST00000598780.1_Splice_Site|UBA52_ENST00000596273.1_Splice_Site|UBA52_ENST00000596304.1_Splice_Site|UBA52_ENST00000597451.1_5'UTR|UBA52_ENST00000595158.1_Splice_Site|UBA52_ENST00000599595.1_5'UTR|UBA52_ENST00000430157.2_Splice_Site	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1						activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						TCCTCCTGCAGACGCAAACAT	0.517																																						uc002njr.2		NaN																	0					0						c.e2-1		ubiquitin and ribosomal protein L40 precursor							65.0	54.0	58.0					19																	18684102		2203	4300	6503	SO:0001630	splice_region_variant	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684102G>A		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.-8-1G>A	19.37:g.18684102G>A						UBA52_uc002njs.2_Splice_Site|UBA52_uc002njt.2_Splice_Site		NM_001033930	NP_001029102	P62987	RL40_HUMAN			2	107	+								P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Splice_Site	SNP	ENST00000442744.2	37	c.-7_splice	CCDS12382.1																																																																																				0.517	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2		NM_003333	Intron	6	28	0	0	0	0.001984	0	6	28		
NCAN	1463	broad.mit.edu	37	19	19334931	19334931	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:19334931C>G	ENST00000252575.6	+	4	676	c.577C>G	c.(577-579)Cgg>Ggg	p.R193G	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	193	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TGCAGCCCCTCGGCATCTACA	0.602																																						uc002nlz.2		NaN																	0				ovary(4)	4						c.(577-579)CGG>GGG		chondroitin sulfate proteoglycan 3 precursor							65.0	53.0	57.0					19																	19334931		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19334931C>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.577C>G	19.37:g.19334931C>G	ENSP00000252575:p.Arg193Gly					NCAN_uc010ecc.1_5'Flank	p.R193G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		4	676	+			193			Link 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.577C>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780181	0.49891	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.08896	3.04	4.89	-0.474	0.12108	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.229797	0.21896	N	0.067501	T	0.01765	0.0056	N	0.00182	-1.905	0.38134	D	0.938257	B	0.29590	0.25	B	0.32533	0.147	T	0.49890	-0.8891	10	0.34782	T	0.22	-20.7475	7.3239	0.26545	0.4214:0.3135:0.2651:0.0	.	193	O14594	NCAN_HUMAN	G	207;193	ENSP00000252575:R193G	ENSP00000252575:R193G	R	+	1	2	NCAN	19195931	0.000000	0.05858	0.832000	0.32986	0.851000	0.48451	-0.352000	0.07701	0.070000	0.16634	0.555000	0.69702	CGG		0.602	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386		11	41	0	0	0	0.008291	0	11	41		
ZNF99	7652	broad.mit.edu	37	19	22940381	22940381	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940381C>T	ENST00000596209.1	-	4	2420	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.R686K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTATGTTTTCTAAGGGCTGA	0.348																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(2056-2058)AGA>AAA		zinc finger protein 99							32.0	33.0	33.0					19																	22940381		1938	4124	6062	SO:0001583	missense	7652							g.chr19:22940381C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2330G>A	19.37:g.22940381C>T	ENSP00000472969:p.Arg777Lys						p.R686K	NM_001080409	NP_001073878					5	2057	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2057G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	1.081	-0.666996	0.03428	.	.	ENSG00000213973	ENST00000397104	T	0.20200	2.09	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.10782	0.045	0.09310	N	1	B	0.18863	0.031	B	0.24269	0.052	T	0.32640	-0.9899	9	0.05721	T	0.95	.	2.9745	0.05933	0.187:0.28:0.0:0.533	.	686	A8MXY4	ZNF99_HUMAN	K	686	ENSP00000380293:R686K	ENSP00000380293:R686K	R	-	2	0	ZNF99	22732221	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.756000	0.00374	-2.192000	0.00755	-0.815000	0.03128	AGA		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		11	77	0	0	0	0.008291	0	11	77		
ZNF99	7652	broad.mit.edu	37	19	22940551	22940551	+	Silent	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:22940551A>C	ENST00000596209.1	-	4	2250	c.2160T>G	c.(2158-2160)ctT>ctG	p.L720L	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.L629L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	720					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATGTTTTCTAAGAGTTGAGG	0.363																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(1885-1887)CTT>CTG		zinc finger protein 99							40.0	42.0	41.0					19																	22940551		2074	4217	6291	SO:0001819	synonymous_variant	7652							g.chr19:22940551A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2160T>G	19.37:g.22940551A>C							p.L629L	NM_001080409	NP_001073878					5	1887	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1887T>G	CCDS59369.1																																																																																				0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		15	64	0	0	0	0.003163	0	15	64		
ZNF91	7644	broad.mit.edu	37	19	23578152	23578152	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:23578152G>A	ENST00000300619.7	-	1	210	c.5C>T	c.(4-6)cCa>cTa	p.P2L	ZNF91_ENST00000397082.2_Missense_Mutation_p.P2L|ZNF91_ENST00000599743.1_Missense_Mutation_p.P2L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	2					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGGGGTTCCTGGCATCTTAGC	0.612																																						uc002nre.2		NaN																	0					0						c.(4-6)CCA>CTA		zinc finger protein 91							75.0	76.0	76.0					19																	23578152		2203	4300	6503	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23578152G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.5C>T	19.37:g.23578152G>A	ENSP00000300619:p.Pro2Leu					ZNF91_uc010xrj.1_Missense_Mutation_p.P2L	p.P2L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			1	118	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	2					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.5C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615364	0.28801	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.08370	3.1;3.38	0.225	0.225	0.15325	.	.	.	.	.	T	0.14227	0.0344	L	0.41573	1.285	0.09310	N	1	P;B	0.51449	0.945;0.007	P;B	0.59056	0.851;0.004	T	0.16335	-1.0406	8	0.87932	D	0	.	.	.	.	.	2;2	Q05481-2;Q05481	.;ZNF91_HUMAN	L	2	ENSP00000300619:P2L;ENSP00000380272:P2L	ENSP00000300619:P2L	P	-	2	0	ZNF91	23369992	0.002000	0.14202	0.019000	0.16419	0.020000	0.10135	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	CCA		0.612	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		21	78	0	0	0	0.004656	0	21	78		
ZNF507	22847	broad.mit.edu	37	19	32873422	32873422	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32873422C>A	ENST00000311921.4	+	5	2602	c.2410C>A	c.(2410-2412)Cat>Aat	p.H804N	ZNF507_ENST00000355898.5_Missense_Mutation_p.H804N|ZNF507_ENST00000544431.1_Missense_Mutation_p.H808N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTTGAAGTCTCATATGTGGAA	0.443																																						uc002nte.2		NaN																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(2410-2412)CAT>AAT		zinc finger protein 507							274.0	265.0	268.0					19																	32873422		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32873422C>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2410C>A	19.37:g.32873422C>A	ENSP00000312277:p.His804Asn					ZNF507_uc002ntd.2_Missense_Mutation_p.H804N	p.H804N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			6	2682	+	Esophageal squamous(110;0.162)		804			C2H2-type 8.		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.2410C>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605239	0.87157	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.60672	3.05;3.05;0.17	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041245	0.85682	D	0.000000	T	0.76779	0.4035	M	0.71581	2.175	0.53005	D	0.999964	D	0.76494	0.999	D	0.83275	0.996	T	0.78679	-0.2110	10	0.87932	D	0	.	19.4637	0.94929	0.0:1.0:0.0:0.0	.	804	Q8TCN5	ZN507_HUMAN	N	804;804;808	ENSP00000348162:H804N;ENSP00000312277:H804N;ENSP00000441549:H808N	ENSP00000312277:H804N	H	+	1	0	ZNF507	37565262	1.000000	0.71417	0.978000	0.43139	0.935000	0.57460	7.410000	0.80065	2.675000	0.91044	0.655000	0.94253	CAT		0.443	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3		NM_014910		108	338	1	0	6.17869e-53	0.00361	7.94403e-53	108	338		
DPY19L3	147991	broad.mit.edu	37	19	32973094	32973094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:32973094G>C	ENST00000342179.5	+	19	2314	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R700T|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	700						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TACTTCACCAGAGTGTTCCAG	0.478																																						uc002ntg.2		NaN																	0				ovary(4)	4						c.(2098-2100)AGA>ACA		dpy-19-like 3							161.0	162.0	162.0					19																	32973094		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32973094G>C		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.2099G>C	19.37:g.32973094G>C	ENSP00000344937:p.Arg700Thr					DPY19L3_uc002nth.1_Missense_Mutation_p.R700T|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.R122T	p.R700T	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			19	2275	+	Esophageal squamous(110;0.162)		700					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.2099G>C	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630034	0.87660	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.52983	0.64;0.64	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	L	0.41824	1.3	0.42538	D	0.993068	D	0.58268	0.982	P	0.59825	0.864	T	0.41840	-0.9486	10	0.23302	T	0.38	-18.9844	14.495	0.67680	0.0697:0.0:0.9303:0.0	.	700	Q6ZPD9	D19L3_HUMAN	T	700	ENSP00000376081:R700T;ENSP00000344937:R700T	ENSP00000344937:R700T	R	+	2	0	DPY19L3	37664934	1.000000	0.71417	0.990000	0.47175	0.936000	0.57629	6.437000	0.73421	2.814000	0.96858	0.591000	0.81541	AGA		0.478	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1		NM_207325		114	199	0	0	0	0.00361	0	114	199		
RHPN2	85415	broad.mit.edu	37	19	33490610	33490610	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:33490610C>T	ENST00000254260.3	-	10	1142	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	RHPN2_ENST00000400226.4_Splice_Site_p.V218V	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	369	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCCTGGCTTCACTGCAAAGA	0.542																																						uc002nuf.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(1105-1107)GTG>GTA		rhophilin, Rho GTPase binding protein 2							82.0	66.0	71.0					19																	33490610		2202	4300	6502	SO:0001630	splice_region_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33490610C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1106-1G>A	19.37:g.33490610C>T						RHPN2_uc010xro.1_Silent_p.V218V|RHPN2_uc002nue.2_Silent_p.V99V	p.V369V	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			10	1173	-	Esophageal squamous(110;0.137)		369			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1107G>A	CCDS12427.1																																																																																				0.542	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2		NM_033103	Silent	27	64	0	0	0	0.002096	0	27	64		
KIAA0355	9710	broad.mit.edu	37	19	34791501	34791501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:34791501G>A	ENST00000299505.6	+	2	996	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	41								p.L41L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCGAGCACTGAGTGCTCCCC	0.637																																						uc002nvd.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(121-123)CTG>CTA		hypothetical protein LOC9710							41.0	35.0	37.0					19																	34791501		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791501G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.123G>A	19.37:g.34791501G>A						KIAA0355_uc010edk.1_Silent_p.L31L	p.L41L	NM_014686	NP_055501	O15063	K0355_HUMAN			2	982	+	Esophageal squamous(110;0.162)		41					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.123G>A	CCDS12436.1																																																																																				0.637	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		24	65	0	0	0	0.002299	0	24	65		
SCN1B	6324	broad.mit.edu	37	19	35523533	35523533	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35523533G>C	ENST00000262631.5	+	2	279	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.E48Q|SCN1B_ENST00000415950.3_Missense_Mutation_p.E48Q	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	48	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GCGCCGCAGCGAGACCAACGC	0.627																																						uc002nxp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(142-144)GAG>CAG		sodium channel, voltage-gated, type I, beta							140.0	132.0	135.0					19																	35523533		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523533G>C		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.142G>C	19.37:g.35523533G>C	ENSP00000262631:p.Glu48Gln					SCN1B_uc002nxo.1_Missense_Mutation_p.E48Q|SCN1B_uc010xsg.1_Missense_Mutation_p.E48Q	p.E48Q	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	333	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		48			Extracellular (Potential).|Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.142G>C	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544480	0.45280	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.24350	1.86;1.86	3.82	3.82	0.43975	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.67397	2.05	0.58432	D	0.999991	D;D;D	0.89917	0.983;0.999;1.0	P;D;D	0.91635	0.852;0.996;0.999	T	0.24693	-1.0153	10	0.23891	T	0.37	-28.0784	11.0836	0.48074	0.0:0.0:1.0:0.0	.	48;48;48	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	Q	48	ENSP00000262631:E48Q;ENSP00000396915:E48Q	ENSP00000262631:E48Q	E	+	1	0	SCN1B	40215373	1.000000	0.71417	0.899000	0.35326	0.004000	0.04260	8.413000	0.90235	1.969000	0.57287	0.563000	0.77884	GAG		0.627	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1				43	190	0	0	0	0.00361	0	43	190		
LSR	51599	broad.mit.edu	37	19	35758329	35758329	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:35758329G>A	ENST00000361790.3	+	9	1765	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	USF2_ENST00000222305.3_5'Flank|LSR_ENST00000347609.4_Missense_Mutation_p.D478N|LSR_ENST00000602122.1_Missense_Mutation_p.D516N|USF2_ENST00000379134.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000360798.3_Missense_Mutation_p.D468N|LSR_ENST00000354900.3_Missense_Mutation_p.D517N|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000427250.1_Missense_Mutation_p.D380N	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	536					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGACCTCTATGACCAAGACGA	0.687																																						uc002nyl.2		NaN																	0					0						c.(1606-1608)GAC>AAC		lipolysis stimulated lipoprotein receptor							16.0	23.0	20.0					19																	35758329		2180	4256	6436	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35758329G>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1606G>A	19.37:g.35758329G>A	ENSP00000354575:p.Asp536Asn					LSR_uc002nym.2_Missense_Mutation_p.D517N|LSR_uc002nyn.2_Missense_Mutation_p.D468N|LSR_uc002nyo.2_Missense_Mutation_p.D516N|LSR_uc010xsr.1_Missense_Mutation_p.D428N|LSR_uc002nyp.2_Missense_Mutation_p.D478N|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.D536N	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	1829	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		536			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1606G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433566	0.43224	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.65916	0.37;0.56;0.2;0.24;-0.18	4.0	0.603	0.17541	.	0.847191	0.10481	N	0.669562	T	0.41834	0.1176	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B	0.28082	0.001;0.0;0.002;0.2;0.001;0.003	B;B;B;B;B;B	0.28465	0.002;0.002;0.004;0.09;0.002;0.003	T	0.32402	-0.9908	10	0.45353	T	0.12	-8.3033	2.5131	0.04661	0.3484:0.0:0.3953:0.2564	.	475;478;516;468;517;536	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	N	536;517;468;478;380	ENSP00000354575:D536N;ENSP00000346976:D517N;ENSP00000354034:D468N;ENSP00000262627:D478N;ENSP00000394479:D380N	ENSP00000262627:D478N	D	+	1	0	LSR	40450169	0.002000	0.14202	0.100000	0.21137	0.756000	0.42949	0.380000	0.20602	0.379000	0.24794	0.485000	0.47835	GAC		0.687	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2		NM_015925		9	27	0	0	0	0.004482	0	9	27		
ATP4A	495	broad.mit.edu	37	19	36054367	36054367	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36054367C>T	ENST00000262623.3	-	2	103	c.75G>A	c.(73-75)aaG>aaA	p.K25K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	25					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGCTCATCTTGGCAGCCA	0.577																																						uc002oal.1		NaN																	0				ovary(1)	1						c.(73-75)AAG>AAA		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						137.0	147.0	144.0					19																	36054367		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054367C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.75G>A	19.37:g.36054367C>T							p.K25K	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	104	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		25			Cytoplasmic (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.75G>A	CCDS12467.1																																																																																				0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2		NM_000704		75	280	0	0	0	0.00361	0	75	280		
KMT2B	9757	broad.mit.edu	37	19	36211234	36211234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36211234C>T	ENST00000222270.7	+	3	985	c.985C>T	c.(985-987)Caa>Taa	p.Q329*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q329*|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.Q329*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	329					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGTCAAGGTCAAGGTCAACA	0.512																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(985-987)CAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 4							23.0	25.0	24.0					19																	36211234		1982	4145	6127	SO:0001587	stop_gained	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36211234C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.985C>T	19.37:g.36211234C>T	ENSP00000222270:p.Gln329*						p.Q329*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	985	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		329					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.985C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.911644	0.33721	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	4.12	4.12	0.48240	.	0.755232	0.10965	U	0.614574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.7358	0.51765	0.0:1.0:0.0:0.0	.	.	.	.	X	329	.	ENSP00000222270:Q329X	Q	+	1	0	AD000671.1	40903074	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	2.402000	0.44521	2.112000	0.64535	0.462000	0.41574	CAA		0.512	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		5	26	0	0	0	0.000602	0	5	26		
IGFLR1	79713	broad.mit.edu	37	19	36230880	36230880	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230880T>C	ENST00000592537.1	-	4	552	c.452A>G	c.(451-453)gAg>gGg	p.E151G	KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.E151G|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGGACAGGCTCAGGGGTCCT	0.632																																						uc002obc.2		NaN																	0					0						c.(451-453)GAG>GGG		transmembrane protein 149 precursor							53.0	54.0	54.0					19																	36230880		2203	4300	6503	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230880T>C	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.452A>G	19.37:g.36230880T>C	ENSP00000466181:p.Glu151Gly					TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.E151G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.E231G	p.E151G	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	553	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		151			Extracellular (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.452A>G	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	t	9.724	1.160345	0.21454	.	.	ENSG00000126246	ENST00000246532	D	0.92752	-3.1	3.97	2.94	0.34122	.	1.766790	0.02976	N	0.145018	D	0.85982	0.5824	N	0.22421	0.69	0.09310	N	0.999996	B	0.11235	0.004	B	0.09377	0.004	T	0.71642	-0.4531	10	0.25106	T	0.35	1.0092	5.8174	0.18500	0.0:0.1224:0.0:0.8776	.	151	Q9H665	IGFR1_HUMAN	G	151	ENSP00000246532:E151G	ENSP00000246532:E151G	E	-	2	0	IGFLR1	40922720	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.297000	0.19101	0.715000	0.32103	0.370000	0.22315	GAG		0.632	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1		NM_024660		40	51	0	0	0	0.006999	0	40	51		
IGFLR1	79713	broad.mit.edu	37	19	36230990	36230990	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:36230990C>T	ENST00000592537.1	-	4	443		c.e4-1		KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000587101.1_Splice_Site|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_Splice_Site			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGACCGGCCTCTGGGGATAAG	0.607																																						uc002obc.2		NaN																	0					0						c.e4-1		transmembrane protein 149 precursor							15.0	17.0	16.0					19																	36230990		2200	4296	6496	SO:0001630	splice_region_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230990C>T	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.343-1G>A	19.37:g.36230990C>T						TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Splice_Site_p.R115_splice|TMEM149_uc010xsy.1_Intron|TMEM149_uc010eej.2_Splice_Site_p.R195_splice	p.R115_splice	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	444	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)							Q8N5X0	Splice_Site	SNP	ENST00000592537.1	37	c.343_splice	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	c	16.55	3.155902	0.57259	.	.	ENSG00000126246	ENST00000246532	.	.	.	4.46	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4263	0.16427	0.1981:0.6976:0.0:0.1043	.	.	.	.	.	-1	.	.	.	-	.	.	IGFLR1	40922830	0.997000	0.39634	0.052000	0.19188	0.657000	0.38888	2.159000	0.42339	0.608000	0.30000	0.457000	0.33378	.		0.607	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1		NM_024660	Intron	4	46	0	0	0	0.000602	0	4	46		
SPRED3	399473	broad.mit.edu	37	19	38882867	38882867	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:38882867C>T	ENST00000338502.4	+	3	465	c.362C>T	c.(361-363)tCc>tTc	p.S121F	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Missense_Mutation_p.S121F|SPRED3_ENST00000587013.1_Missense_Mutation_p.S165F	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	121	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCAccccctcctcctcctcc	0.647																																						uc002oim.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(361-363)TCC>TTC		sprouty-related, EVH1 domain containing 3							37.0	46.0	43.0					19																	38882867		2057	4190	6247	SO:0001583	missense	399473				multicellular organismal development			g.chr19:38882867C>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.362C>T	19.37:g.38882867C>T	ENSP00000345405:p.Ser121Phe					SPRED3_uc002oil.1_Missense_Mutation_p.S121F	p.S121F	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	366	+	all_cancers(60;3.4e-06)		121			Ser-rich.		Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	c.362C>T	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925045	0.34002	.	.	ENSG00000188766	ENST00000338502;ENST00000396877	D	0.82255	-1.59	3.34	3.34	0.38264	.	.	.	.	.	T	0.79684	0.4488	N	0.14661	0.345	0.36317	D	0.858027	P;D	0.55605	0.676;0.972	P;P	0.58013	0.485;0.831	D	0.84162	0.0429	9	0.87932	D	0	-4.4806	10.8845	0.46960	0.0:1.0:0.0:0.0	.	121;121	Q2MJR0;Q2MJR1	SPRE3_HUMAN;.	F	121	ENSP00000345405:S121F	ENSP00000345405:S121F	S	+	2	0	SPRED3	43574707	1.000000	0.71417	0.991000	0.47740	0.531000	0.34715	2.872000	0.48467	1.823000	0.53134	0.462000	0.41574	TCC		0.647	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1		XM_351191		15	20	0	0	0	0.00245	0	15	20		
RYR1	6261	broad.mit.edu	37	19	39017663	39017663	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39017663C>G	ENST00000359596.3	+	72	10657	c.10657C>G	c.(10657-10659)Ctg>Gtg	p.L3553V	RYR1_ENST00000360985.3_Missense_Mutation_p.L3553V|RYR1_ENST00000355481.4_Missense_Mutation_p.L3548V|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3553					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCGGGAATTTCTGCACAACAA	0.507																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10657-10659)CTG>GTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						110.0	92.0	98.0					19																	39017663		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39017663C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10657C>G	19.37:g.39017663C>G	ENSP00000352608:p.Leu3553Val					RYR1_uc002oiu.2_Missense_Mutation_p.L3548V|RYR1_uc002oiv.1_Missense_Mutation_p.L468V|RYR1_uc010xuf.1_Missense_Mutation_p.L473V	p.L3553V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		72	10787	+	all_cancers(60;7.91e-06)		3553					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10657C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	8.881	0.951693	0.18431	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96774	-4.12;-4.12;-4.12	4.36	2.19	0.27852	.	0.000000	0.52532	U	0.000064	D	0.92857	0.7728	L	0.46947	1.48	0.36328	D	0.858666	P;P;P	0.52316	0.952;0.952;0.921	P;P;B	0.45310	0.476;0.476;0.284	D	0.90506	0.4477	10	0.19590	T	0.45	.	7.6051	0.28097	0.0:0.7221:0.0:0.2779	.	3553;3548;3553	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	V	3553;3548;3553;473	ENSP00000352608:L3553V;ENSP00000347667:L3548V;ENSP00000354254:L3553V	ENSP00000347667:L3548V	L	+	1	2	RYR1	43709503	0.019000	0.18553	0.999000	0.59377	0.802000	0.45316	-0.258000	0.08733	1.052000	0.40392	0.467000	0.42956	CTG		0.507	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				11	88	0	0	0	0.000978	0	11	88		
RYR1	6261	broad.mit.edu	37	19	39034011	39034011	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39034011A>C	ENST00000359596.3	+	85	11714	c.11714A>C	c.(11713-11715)cAg>cCg	p.Q3905P	RYR1_ENST00000360985.3_Missense_Mutation_p.Q3900P|RYR1_ENST00000355481.4_Missense_Mutation_p.Q3900P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3905					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTACGGACACAGACAGGGAAC	0.493																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(11713-11715)CAG>CCG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						182.0	142.0	155.0					19																	39034011		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39034011A>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11714A>C	19.37:g.39034011A>C	ENSP00000352608:p.Gln3905Pro					RYR1_uc002oiu.2_Missense_Mutation_p.Q3900P|RYR1_uc002oiv.1_Missense_Mutation_p.Q814P	p.Q3905P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		85	11844	+	all_cancers(60;7.91e-06)		3905					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11714A>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350350	0.41599	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99186	-5.53;-5.53;-5.53	4.25	4.25	0.50352	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000007	D	0.99420	0.9795	H	0.94264	3.515	0.54753	D	0.999986	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.81914	0.986;0.991;0.995	D	0.98494	1.0611	10	0.87932	D	0	.	13.1647	0.59565	1.0:0.0:0.0:0.0	.	3900;3900;3905	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	P	3905;3900;3900	ENSP00000352608:Q3905P;ENSP00000347667:Q3900P;ENSP00000354254:Q3900P	ENSP00000347667:Q3900P	Q	+	2	0	RYR1	43725851	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.848000	0.92172	1.798000	0.52647	0.402000	0.26972	CAG		0.493	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				28	153	0	0	0	0.007291	0	28	153		
LRFN1	57622	broad.mit.edu	37	19	39804678	39804678	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804678G>C	ENST00000248668.4	-	1	1298	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	433	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGTTCGAGGTGAGCTCGGCTG	0.652																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(1297-1299)CTC>CTG		leucine rich repeat and fibronectin type III							23.0	30.0	28.0					19																	39804678		2063	4192	6255	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804678G>C	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1299C>G	19.37:g.39804678G>C							p.L433L	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1299	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		433			Fibronectin type-III.|Extracellular (Potential).		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.1299C>G	CCDS46071.1																																																																																				0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		6	44	0	0	0	0.00308	0	6	44		
LRFN1	57622	broad.mit.edu	37	19	39804803	39804803	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39804803G>C	ENST00000248668.4	-	1	1173	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	392						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCATCAGAGGCAGAGGT	0.672																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(1174-1176)CTG>GTG		leucine rich repeat and fibronectin type III							18.0	24.0	22.0					19																	39804803		2148	4235	6383	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804803G>C	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1174C>G	19.37:g.39804803G>C	ENSP00000248668:p.Leu392Val						p.L392V	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1174	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		392			Extracellular (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1174C>G	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728291	0.30593	.	.	ENSG00000128011	ENST00000248668	T	0.61859	0.07	4.53	2.33	0.28932	.	0.000000	0.35970	N	0.002875	T	0.40247	0.1109	N	0.19112	0.55	0.34070	D	0.658318	P	0.38711	0.643	B	0.42188	0.379	T	0.45948	-0.9226	10	0.19147	T	0.46	.	7.9725	0.30136	0.214:0.0:0.786:0.0	.	392	Q9P244	LRFN1_HUMAN	V	392	ENSP00000248668:L392V	ENSP00000248668:L392V	L	-	1	2	LRFN1	44496643	0.928000	0.31464	0.176000	0.23000	0.960000	0.62799	2.293000	0.43558	0.502000	0.28037	0.655000	0.94253	CTG		0.672	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		7	41	0	0	0	0.001984	0	7	41		
MED29	55588	broad.mit.edu	37	19	39882056	39882056	+	5'UTR	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:39882056G>C	ENST00000599213.2	+	0	21				MED29_ENST00000315588.5_Silent_p.A19A|PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_5'UTR|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGTCTACGCGAGGAAGATGG	0.617																																						uc002olf.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(55-57)GCG>GCC		mediator complex subunit 29							36.0	33.0	34.0					19																	39882056		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39882056G>C	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.-7G>C	19.37:g.39882056G>C						PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Silent_p.A19A|MED29_uc010xux.1_RNA	p.A19A	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		1	94	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		166					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.57G>C																																																																																					0.617	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829		9	33	0	0	0	0.004482	0	9	33		
PRX	57716	broad.mit.edu	37	19	40902007	40902007	+	Nonsense_Mutation	SNP	G	G	C	rs570569581	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:40902007G>C	ENST00000324001.7	-	7	2522	c.2252C>G	c.(2251-2253)tCa>tGa	p.S751*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	751	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGAATCTCTGACACTTTCGG	0.592																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(2251-2253)TCA>TGA		periaxin isoform 2							83.0	91.0	88.0					19																	40902007		2198	4298	6496	SO:0001587	stop_gained	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902007G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2252C>G	19.37:g.40902007G>C	ENSP00000326018:p.Ser751*					PRX_uc002onq.2_Nonsense_Mutation_p.S612*|PRX_uc002ons.2_3'UTR	p.S751*	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2521	-			751			51.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Nonsense_Mutation	SNP	ENST00000324001.7	37	c.2252C>G	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	40	8.089636	0.98648	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	5.11	4.07	0.47477	.	0.397032	0.18575	N	0.137220	.	.	.	.	.	.	0.32556	N	0.53176	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.0202	6.8988	0.24271	0.2703:0.0:0.7297:0.0	.	.	.	.	X	751	.	ENSP00000326018:S751X	S	-	2	0	PRX	45593847	.	.	0.308000	0.25141	0.808000	0.45660	.	.	1.142000	0.42291	0.655000	0.94253	TCA		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		60	236	0	0	0	0.00361	0	60	236		
SPTBN4	57731	broad.mit.edu	37	19	41029487	41029487	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41029487G>C	ENST00000352632.3	+	17	3884	c.3798G>C	c.(3796-3798)ctG>ctC	p.L1266L	SPTBN4_ENST00000338932.3_Silent_p.L1266L|SPTBN4_ENST00000595535.1_Silent_p.L1266L|SPTBN4_ENST00000392025.1_5'Flank|SPTBN4_ENST00000598249.1_Silent_p.L1266L|SPTBN4_ENST00000344104.3_Silent_p.L1266L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1266					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGCCTGCTGAGGCAGGGCA	0.632																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3796-3798)CTG>CTC		spectrin, beta, non-erythrocytic 4 isoform							59.0	50.0	53.0					19																	41029487		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41029487G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3798G>C	19.37:g.41029487G>C						SPTBN4_uc002onx.2_Silent_p.L1266L|SPTBN4_uc002onz.2_Silent_p.L1266L|SPTBN4_uc010egx.2_5'UTR	p.L1266L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	3884	+			1266			Spectrin 10.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3798G>C	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				23	74	0	0	0	0.00333	0	23	74		
CYP2A7	1549	broad.mit.edu	37	19	41384835	41384835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:41384835C>G	ENST00000301146.4	-	5	1202	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.E170Q	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	221						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGAACATCTCATAGAGCTGG	0.527																																						uc002opm.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(661-663)GAG>CAG		cytochrome P450, family 2, subfamily A,							31.0	29.0	29.0					19																	41384835		2203	4295	6498	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41384835C>G	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.661G>C	19.37:g.41384835C>G	ENSP00000301146:p.Glu221Gln					CYP2A7_uc002opo.2_Missense_Mutation_p.E221Q|CYP2A7_uc002opn.2_Missense_Mutation_p.E170Q	p.E221Q	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	1203	-			221					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.661G>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117919	0.56505	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68479	5.08;-0.33	2.18	2.18	0.27775	.	0.183579	0.47093	D	0.000252	T	0.65523	0.2699	L	0.31476	0.935	0.23243	N	0.998054	D;D;D	0.76494	0.999;0.977;0.999	D;P;D	0.72075	0.961;0.791;0.976	T	0.52102	-0.8620	10	0.62326	D	0.03	.	4.222	0.10563	0.0:0.6698:0.0:0.3302	.	221;170;221	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	Q	221;170	ENSP00000301146:E221Q;ENSP00000291764:E170Q	ENSP00000291764:E170Q	E	-	1	0	CYP2A7	46076675	0.970000	0.33590	0.893000	0.35052	0.493000	0.33554	0.090000	0.15025	1.215000	0.43411	0.184000	0.17185	GAG		0.527	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2		NM_030589		15	46	0	0	0	0.006122	0	15	46		
CIC	23152	broad.mit.edu	37	19	42791575	42791575	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:42791575G>C	ENST00000575354.2	+	4	596	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	CIC_ENST00000160740.3_Missense_Mutation_p.E186Q|CIC_ENST00000572681.2_Missense_Mutation_p.E1095Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCATCTTCTGAGAAGGATGG	0.597			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(556-558)GAG>CAG		capicua homolog							115.0	122.0	119.0					19																	42791575		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791575G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.556G>C	19.37:g.42791575G>C	ENSP00000458663:p.Glu186Gln						p.E186Q	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			4	596	+		Prostate(69;0.00682)	186					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.556G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943862	0.53079	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.36	4.36	0.52297	High mobility group, superfamily (1);	.	.	.	.	T	0.45438	0.1342	N	0.11064	0.09	0.31078	N	0.712274	D	0.63880	0.993	D	0.70227	0.968	T	0.54036	-0.8353	8	0.87932	D	0	-19.7266	14.5137	0.67804	0.0:0.0:1.0:0.0	.	186	Q96RK0	CIC_HUMAN	Q	186	.	ENSP00000160740:E186Q	E	+	1	0	CIC	47483415	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.837000	0.55820	2.284000	0.76573	0.555000	0.69702	GAG		0.597	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				26	154	0	0	0	0.00632	0	26	154		
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	T	rs200468364		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45262794C>T	ENST00000164227.5	+	9	1531	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL																																	uc010xxe.1		NaN		Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		2	Substitution - coding silent(2)		large_intestine(1)|prostate(1)	ovary(1)|lung(1)	2						c.(1285-1287)CCC>CCT		B-cell CLL/lymphoma 3		C		2,4404	4.2+/-10.8	0,2,2201	97.0	108.0	104.0		1287	-9.0	0.5	19		104	0,8600		0,0,4300	no	coding-synonymous	BCL3	NM_005178.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		429/455	45262794	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262794C>T	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1287C>T	19.37:g.45262794C>T							p.P429P	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1357	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	429			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1287C>T	CCDS12642.2																																																																																				0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1		NM_005178		19	345	0	0	0	0.001523	0	19	345		
FOSB	2354	broad.mit.edu	37	19	45976195	45976195	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:45976195C>T	ENST00000353609.3	+	4	1534	c.942C>T	c.(940-942)ttC>ttT	p.F314F	FOSB_ENST00000591858.1_Silent_p.F275F|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000443841.2_Silent_p.F171F|FOSB_ENST00000586615.1_Silent_p.F265F|FOSB_ENST00000592811.1_3'UTR|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000585836.1_Silent_p.F239F|FOSB_ENST00000417353.2_Silent_p.F278F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	314					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCTCCGCGTTCGCCGGCGCCC	0.577																																						uc002pbx.3		NaN																	0				ovary(2)|lung(1)	3						c.(940-942)TTC>TTT		FBJ murine osteosarcoma viral oncogene homolog B							93.0	89.0	90.0					19																	45976195		2203	4300	6503	SO:0001819	synonymous_variant	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45976195C>T		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.942C>T	19.37:g.45976195C>T						ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F	p.F314F	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	4	1534	+		Ovarian(192;0.051)|all_neural(266;0.112)	314					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	c.942C>T	CCDS12664.1																																																																																				0.577	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1		NM_006732		25	169	0	0	0	0.00333	0	25	169		
FBXO46	23403	broad.mit.edu	37	19	46215530	46215530	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:46215530G>T	ENST00000317683.3	-	2	1357	c.1224C>A	c.(1222-1224)ctC>ctA	p.L408L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	408										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGAAAGAAGAGCTGGCCCG	0.701																																						uc002pcy.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1222-1224)CTC>CTA		F-box protein 46							19.0	20.0	20.0					19																	46215530		1641	3706	5347	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215530G>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1224C>A	19.37:g.46215530G>T						FBXO46_uc002pcz.2_Silent_p.L408L	p.L408L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1349	-		Ovarian(192;0.179)|all_neural(266;0.224)	408						Silent	SNP	ENST00000317683.3	37	c.1224C>A	CCDS46116.1																																																																																				0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1		XM_371179		8	62	1	0	2.52707e-12	0.006214	3.15063e-12	8	62		
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535945C>G	ENST00000602212.1	+	5	697	c.477C>G	c.(475-477)ttC>ttG	p.F159L	NPAS1_ENST00000439365.2_5'Flank|NPAS1_ENST00000449844.2_Missense_Mutation_p.F159L|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pfw.2		NaN																	0					0						c.(475-477)TTC>TTG		neuronal PAS domain protein 1							142.0	113.0	123.0					19																	47535945		2203	4300	6503	SO:0001583	missense	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47535945C>G	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.477C>G	19.37:g.47535945C>G	ENSP00000469142:p.Phe159Leu		OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.F159L|NPAS1_uc010xyj.1_5'Flank	p.F159L	NM_002517	NP_002508	Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	5	673	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	159			PAS 1.		B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.477C>G	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010888	0.75046	.	.	ENSG00000130751	ENST00000449844	T	0.15487	2.42	5.14	-1.66	0.08265	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.25789	0.76	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	T	0.01312	-1.1388	10	0.41790	T	0.15	.	9.6429	0.39850	0.0:0.4318:0.0:0.5682	.	159	Q99742	NPAS1_HUMAN	L	159	ENSP00000405290:F159L	ENSP00000405290:F159L	F	+	3	2	NPAS1	52227785	0.564000	0.26602	0.998000	0.56505	0.996000	0.88848	-0.240000	0.08952	-0.063000	0.13065	0.462000	0.41574	TTC		0.577	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1		NM_002517		25	101	0	0	0	0.005443	0	25	101		
NPAS1	4861	broad.mit.edu	37	19	47535976	47535976	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47535976C>T	ENST00000602212.1	+	5	728	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	NPAS1_ENST00000439365.2_5'Flank|NPAS1_ENST00000449844.2_Silent_p.L170L|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	170	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CTCCATCTATCTGGGTCTCTC	0.552											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pfw.2		NaN																	0					0						c.(508-510)CTG>TTG		neuronal PAS domain protein 1							103.0	87.0	92.0					19																	47535976		2203	4300	6503	SO:0001819	synonymous_variant	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47535976C>T	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.508C>T	19.37:g.47535976C>T			OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Silent_p.L170L|NPAS1_uc010xyj.1_5'Flank	p.L170L	NM_002517	NP_002508	Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	5	704	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	170			PAS 1.		B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	c.508C>T	CCDS12694.1																																																																																				0.552	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1		NM_002517		20	75	0	0	0	0.001523	0	20	75		
DHX34	9704	broad.mit.edu	37	19	47856631	47856631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47856631C>T	ENST00000328771.4	+	2	693	c.344C>T	c.(343-345)aCg>aTg	p.T115M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	115					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCCCTGCCACGCGGGGCTCT	0.642																																						uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(343-345)ACG>ATG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							87.0	85.0	86.0					19																	47856631		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856631C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.344C>T	19.37:g.47856631C>T	ENSP00000331907:p.Thr115Met					DHX34_uc010elc.1_Missense_Mutation_p.T115M	p.T115M	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	685	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	115					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.344C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	5.457	0.269485	0.10349	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02737	4.18	5.9	-2.14	0.07123	.	18.806400	0.00166	N	0.000014	T	0.02418	0.0074	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.006	B;B	0.11329	0.006;0.004	T	0.44847	-0.9301	10	0.18710	T	0.47	.	5.7409	0.18094	0.1855:0.2847:0.0:0.5298	.	115;115	Q14147;B4E3G3	DHX34_HUMAN;.	M	115	ENSP00000331907:T115M	ENSP00000257252:T115M	T	+	2	0	DHX34	52548471	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.326000	0.02685	-0.114000	0.11936	-0.389000	0.06534	ACG		0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		27	161	0	0	0	0.005443	0	27	161		
NAPA	8775	broad.mit.edu	37	19	47998837	47998837	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:47998837C>G	ENST00000263354.3	-	4	611	c.312G>C	c.(310-312)ttG>ttC	p.L104F	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.L65F|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	104					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGCTCGCATCAAACAGTTAA	0.567																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1		NaN																	0					0						c.(310-312)TTG>TTC		N-ethylmaleimide-sensitive factor attachment							162.0	145.0	151.0					19																	47998837		2203	4300	6503	SO:0001583	missense	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47998837C>G	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.312G>C	19.37:g.47998837C>G	ENSP00000263354:p.Leu104Phe					uc002pgz.1_RNA|NAPA_uc002phb.1_Missense_Mutation_p.L65F|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Missense_Mutation_p.L104F|NAPA_uc010elf.1_5'UTR	p.L104F	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	4	612	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	104					A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	c.312G>C	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421338	0.42918	.	.	ENSG00000105402	ENST00000263354	T	0.77750	-1.12	4.14	3.07	0.35406	Tetratricopeptide-like helical (1);	0.195991	0.34245	N	0.004131	T	0.79094	0.4388	M	0.77313	2.365	0.80722	D	1	B	0.22276	0.067	B	0.32533	0.147	T	0.78437	-0.2204	10	0.72032	D	0.01	-2.4616	11.9568	0.52986	0.0:0.6637:0.3363:0.0	.	104	P54920	SNAA_HUMAN	F	104	ENSP00000263354:L104F	ENSP00000263354:L104F	L	-	3	2	NAPA	52690649	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.305000	0.33493	0.915000	0.36847	0.462000	0.41574	TTG		0.567	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2		NM_003827		19	216	0	0	0	0.001523	0	19	216		
CCDC114	93233	broad.mit.edu	37	19	48801464	48801464	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:48801464G>T	ENST00000315396.7	-	11	1945	c.1263C>A	c.(1261-1263)ctC>ctA	p.L421L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	421					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCACTGTCAGGAGCTCCACCA	0.652																																						uc002pir.2		NaN																	0				ovary(1)	1						c.(1261-1263)CTC>CTA		coiled-coil domain containing 114 isoform 2							54.0	55.0	55.0					19																	48801464		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801464G>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1263C>A	19.37:g.48801464G>T						CCDC114_uc002piq.2_Silent_p.L230L|CCDC114_uc002pio.2_Silent_p.L458L|CCDC114_uc002pis.1_Silent_p.L101L|CCDC114_uc002pit.1_Silent_p.L458L	p.L421L	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	11	1946	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	421					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1263C>A	CCDS12714.2																																																																																				0.652	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1		NM_144577		15	56	1	0	3.27435e-08	0.00245	3.98906e-08	15	56		
RASIP1	54922	broad.mit.edu	37	19	49238679	49238679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49238679G>A	ENST00000222145.4	-	4	1157	c.953C>T	c.(952-954)tCa>tTa	p.S318L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	318					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAAGTTTTCTGAGCGCTCCTT	0.701																																						uc002pki.2		NaN																	0				pancreas(1)	1						c.(952-954)TCA>TTA		Ras-interacting protein 1							13.0	12.0	13.0					19																	49238679		2200	4296	6496	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238679G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.953C>T	19.37:g.49238679G>A	ENSP00000222145:p.Ser318Leu						p.S318L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1150	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	318					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.953C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515805	0.64634	.	.	ENSG00000105538	ENST00000222145	T	0.08102	3.13	5.15	4.1	0.47936	.	0.270112	0.27266	N	0.020146	T	0.07143	0.0181	L	0.42245	1.32	0.32474	N	0.542434	P	0.39480	0.675	B	0.31101	0.124	T	0.13335	-1.0513	10	0.41790	T	0.15	-0.0163	11.2778	0.49176	0.0:0.0:0.8171:0.1829	.	318	Q5U651	RAIN_HUMAN	L	318	ENSP00000222145:S318L	ENSP00000222145:S318L	S	-	2	0	RASIP1	53930491	0.989000	0.36119	0.988000	0.46212	0.661000	0.39034	2.086000	0.41643	1.286000	0.44565	0.511000	0.50034	TCA		0.701	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1		NM_017805		8	24	0	0	0	0.004482	0	8	24		
DHDH	27294	broad.mit.edu	37	19	49436972	49436972	+	5'UTR	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49436972C>G	ENST00000221403.2	+	0	34				DHDH_ENST00000522614.1_5'UTR|DHDH_ENST00000523250.1_5'UTR	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)						carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCTCCGCATCGCAACCATGG	0.682																																						uc002ple.1		NaN																	0					0						c.(-8--4)ATCGC>ATGGC		dimeric dihydrodiol dehydrogenase							42.0	40.0	41.0					19																	49436972		2203	4297	6500	SO:0001623	5_prime_UTR_variant	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49436972C>G	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.-7C>G	19.37:g.49436972C>G								NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	1	34	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)							Translation_Start_Site	SNP	ENST00000221403.2	37	c.-6C>G	CCDS12741.1																																																																																				0.682	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1		NM_014475		25	54	0	0	0	0.008361	0	25	54		
TRPM4	54795	broad.mit.edu	37	19	49661463	49661463	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661463G>T	ENST00000252826.5	+	2	165	c.39G>T	c.(37-39)aaG>aaT	p.K13N	TRPM4_ENST00000355712.5_5'UTR|HRC_ENST00000595625.1_5'Flank|HRC_ENST00000252825.4_5'Flank|TRPM4_ENST00000427978.2_Missense_Mutation_p.K13N	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	13					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGATCCCCAAGATCTTCAAGA	0.602																																						uc002pmw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(37-39)AAG>AAT		transient receptor potential cation channel,							171.0	174.0	173.0					19																	49661463		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49661463G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.39G>T	19.37:g.49661463G>T	ENSP00000252826:p.Lys13Asn					TRPM4_uc010emu.2_Missense_Mutation_p.K13N|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Missense_Mutation_p.K13N|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank	p.K13N	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	2	111	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	13			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.39G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506595	0.64410	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.74002	-0.8;-0.8	4.56	3.5	0.40072	.	0.426090	0.20873	N	0.084126	T	0.68247	0.2980	N	0.20807	0.61	0.80722	D	1	D;P	0.61080	0.989;0.745	P;B	0.56563	0.801;0.199	T	0.63363	-0.6654	10	0.25751	T	0.34	-22.7667	9.9118	0.41411	0.163:0.0:0.837:0.0	.	13;13	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	N	13	ENSP00000252826:K13N;ENSP00000407492:K13N	ENSP00000252826:K13N	K	+	3	2	TRPM4	54353275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.634000	0.37123	2.257000	0.74773	0.561000	0.74099	AAG		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2		NM_017636		73	333	1	0	3.19358e-47	0.00361	4.09871e-47	73	333		
TRPM4	54795	broad.mit.edu	37	19	49661514	49661514	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:49661514G>A	ENST00000252826.5	+	2	216	c.90G>A	c.(88-90)ccG>ccA	p.P30P	TRPM4_ENST00000355712.5_5'UTR|HRC_ENST00000252825.4_5'Flank|TRPM4_ENST00000427978.2_Silent_p.P30P	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	30					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCACAGATCCGGGGTGAGGAG	0.627																																						uc002pmw.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(88-90)CCG>CCA		transient receptor potential cation channel,							138.0	143.0	141.0					19																	49661514		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49661514G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.90G>A	19.37:g.49661514G>A						TRPM4_uc010emu.2_Silent_p.P30P|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Silent_p.P30P|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank	p.P30P	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	2	162	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	30			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.90G>A	CCDS33073.1																																																																																				0.627	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2		NM_017636		55	317	0	0	0	0.00361	0	55	317		
FCGRT	2217	broad.mit.edu	37	19	50029338	50029338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:50029338G>A	ENST00000221466.5	+	7	1546	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	FCGRT_ENST00000426395.3_Missense_Mutation_p.D354N|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_Missense_Mutation_p.D88N|FCGRT_ENST00000596975.1_Missense_Mutation_p.D262N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	354					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCAGGATGCTGATTTGAAGGA	0.577																																						uc002poe.2		NaN																	0				ovary(1)	1						c.(1060-1062)GAT>AAT		Fc fragment of IgG, receptor, transporter, alpha							114.0	115.0	115.0					19																	50029338		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50029338G>A	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.1060G>A	19.37:g.50029338G>A	ENSP00000221466:p.Asp354Asn					FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.D354N|FCGRT_uc002poi.2_RNA|RCN3_uc002poj.2_5'Flank	p.D354N	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	7	1546	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	354			Cytoplasmic (Potential).		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.1060G>A	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383008	0.42207	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00776	5.71;5.71	4.29	3.2	0.36748	.	0.669254	0.13114	N	0.412775	T	0.00875	0.0029	L	0.38175	1.15	0.20196	N	0.999925	P	0.38922	0.651	B	0.33521	0.165	T	0.53201	-0.8472	10	0.72032	D	0.01	.	9.956	0.41666	0.0:0.2063:0.7937:0.0	.	354	P55899	FCGRN_HUMAN	N	354	ENSP00000221466:D354N;ENSP00000410798:D354N	ENSP00000221466:D354N	D	+	1	0	FCGRT	54721150	0.190000	0.23276	0.008000	0.14137	0.018000	0.09664	2.572000	0.45999	1.335000	0.45486	0.563000	0.77884	GAT		0.577	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1				33	311	0	0	0	0.003755	0	33	311		
SHANK1	50944	broad.mit.edu	37	19	51165245	51165245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51165245G>A	ENST00000293441.1	-	23	6481	c.6463C>T	c.(6463-6465)Ctc>Ttc	p.L2155F	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.L1542F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L2163F|SHANK1_ENST00000359082.3_Missense_Mutation_p.L2146F|SHANK1_ENST00000483981.2_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2155	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAGAATTTGAGAGCCCGGTCG	0.612																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(6463-6465)CTC>TTC		SH3 and multiple ankyrin repeat domains 1							59.0	56.0	57.0					19																	51165245		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165245G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6463C>T	19.37:g.51165245G>A	ENSP00000293441:p.Leu2155Phe					SHANK1_uc002psw.1_Missense_Mutation_p.L1539F	p.L2155F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6482	-		all_neural(266;0.057)	2155			SAM.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6463C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	8.675	0.903737	0.17760	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.53	1.33	0.21861	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.53938	U	0.000057	T	0.53530	0.1802	M	0.87038	2.855	0.43287	D	0.995268	B;P	0.34639	0.11;0.461	B;B	0.34873	0.179;0.191	T	0.55341	-0.8156	10	0.87932	D	0	.	7.1814	0.25774	0.0958:0.0:0.7354:0.1688	.	2155;1542	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	F	2155;1542;2146;2163	ENSP00000293441:L2155F;ENSP00000375689:L1542F;ENSP00000351984:L2146F;ENSP00000375690:L2163F	ENSP00000293441:L2155F	L	-	1	0	SHANK1	55857057	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	3.810000	0.55613	0.317000	0.23160	-0.382000	0.06688	CTC		0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		26	89	0	0	0	0.005443	0	26	89		
ACPT	93650	broad.mit.edu	37	19	51293713	51293713	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51293713C>G	ENST00000270593.1	+	1	42	c.42C>G	c.(40-42)ctC>ctG	p.L14L	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Silent_p.L14L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	14						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.711																																						uc002pta.1		NaN																	0					0						c.(40-42)CTC>CTG		testicular acid phosphatase precursor							16.0	14.0	15.0					19																	51293713		2189	4270	6459	SO:0001819	synonymous_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51293713C>G	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.42C>G	19.37:g.51293713C>G							p.L14L	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	42	+		all_neural(266;0.057)	14					C0H3P7|Q9BZG3|Q9BZG4	Silent	SNP	ENST00000270593.1	37	c.42C>G	CCDS12802.1																																																																																				0.711	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1		NM_033068		4	17	0	0	0	0.000602	0	4	17		
SIGLEC8	27181	broad.mit.edu	37	19	51958762	51958762	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:51958762T>C	ENST00000321424.3	-	4	1027	c.961A>G	c.(961-963)Agg>Ggg	p.R321G	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R212G|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R228G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	321	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTTCATCCCTCACGTGCACT	0.642																																						uc002pwt.2		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(961-963)AGG>GGG		sialic acid binding Ig-like lectin 8 precursor							54.0	51.0	52.0					19																	51958762		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958762T>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.961A>G	19.37:g.51958762T>C	ENSP00000321077:p.Arg321Gly					SIGLEC8_uc010yda.1_Missense_Mutation_p.R212G|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.R228G	p.R321G	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1028	-		all_neural(266;0.0199)	321			Extracellular (Potential).|Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.961A>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.772	-0.765447	0.02996	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.20738	2.05;2.05;2.05	2.19	-4.37	0.03633	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.502220	0.04302	N	0.347511	T	0.09905	0.0243	N	0.10809	0.05	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.10450	0.005;0.002;0.0	T	0.29274	-1.0017	10	0.17369	T	0.5	.	6.2551	0.20870	0.1637:0.5954:0.0:0.2409	.	212;228;321	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	G	212;321;228	ENSP00000389142:R212G;ENSP00000321077:R321G;ENSP00000339448:R228G	ENSP00000321077:R321G	R	-	1	2	SIGLEC8	56650574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.378000	0.02556	-2.078000	0.00872	-1.522000	0.00932	AGG		0.642	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442		6	41	0	0	0	0.001168	0	6	41		
FPR2	2358	broad.mit.edu	37	19	52272587	52272587	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52272587G>T	ENST00000598776.1	+	2	1448	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	FPR2_ENST00000598953.1_Missense_Mutation_p.A226S|FPR2_ENST00000340023.6_Missense_Mutation_p.A226S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	226					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTCATTGCAGCCAAGATCCA	0.498																																						uc002pxr.2		NaN																	0				lung(3)|ovary(1)	4						c.(676-678)GCC>TCC		formyl peptide receptor-like 1							169.0	132.0	145.0					19																	52272587		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272587G>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.676G>T	19.37:g.52272587G>T	ENSP00000468897:p.Ala226Ser					FPR2_uc002pxs.3_Missense_Mutation_p.A226S|FPR2_uc010epf.2_Missense_Mutation_p.A226S	p.A226S	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	721	+			226			Helical; Name=5; (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.676G>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.438977	0.43326	.	.	ENSG00000171049	ENST00000340023	T	0.36699	1.24	3.8	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.356680	0.26362	U	0.024814	T	0.31765	0.0807	L	0.46670	1.46	0.09310	N	1	P	0.37636	0.603	P	0.46339	0.513	T	0.11203	-1.0597	10	0.19590	T	0.45	.	4.0383	0.09740	0.2265:0.1974:0.5761:0.0	.	226	P25090	FPR2_HUMAN	S	226	ENSP00000340191:A226S	ENSP00000340191:A226S	A	+	1	0	FPR2	56964399	0.186000	0.23225	0.053000	0.19242	0.962000	0.63368	1.030000	0.30153	0.400000	0.25396	0.491000	0.48974	GCC		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2		NM_001005738		42	58	1	0	4.67007e-22	0.00874	5.94597e-22	42	58		
PPP2R1A	5518	broad.mit.edu	37	19	52719275	52719275	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:52719275C>T	ENST00000322088.6	+	8	999	c.941C>T	c.(940-942)tCa>tTa	p.S314L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S259L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S135L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	314	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAACCTCTCAGCTGACTGT	0.547			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NaN		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(940-942)TCA>TTA		alpha isoform of regulatory subunit A, protein							87.0	76.0	80.0					19																	52719275		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719275C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.941C>T	19.37:g.52719275C>T	ENSP00000324804:p.Ser314Leu					PPP2R1A_uc010ydk.1_Missense_Mutation_p.S259L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S354L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.S135L	p.S314L	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	8	1100	+			314			PP2A subunit B binding.|HEAT 8.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.941C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100667	0.56183	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.32753	1.44;1.44	4.58	3.51	0.40186	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000042	T	0.16811	0.0404	N	0.14661	0.345	0.50467	D	0.99987	P;B;B	0.35401	0.499;0.005;0.005	B;B;B	0.27796	0.083;0.004;0.004	T	0.08889	-1.0700	10	0.59425	D	0.04	-3.3111	12.5491	0.56216	0.0:0.8309:0.169:0.0	.	259;314;314	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	304;234;314;259	ENSP00000324804:S314L;ENSP00000415067:S259L	ENSP00000324804:S314L	S	+	2	0	PPP2R1A	57411087	1.000000	0.71417	0.745000	0.31077	0.996000	0.88848	6.859000	0.75467	1.253000	0.44018	0.655000	0.94253	TCA		0.547	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		NM_014225		43	51	0	0	0	0.002222	0	43	51		
ZNF845	91664	broad.mit.edu	37	19	53856074	53856074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:53856074G>C	ENST00000595091.1	+	5	2365	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E716Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	716				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCATACTGGAGAGAAACCTTA	0.418																																						uc010ydv.1		NaN																	0					0						c.(2146-2148)GAG>CAG		zinc finger protein 845							72.0	74.0	73.0					19																	53856074		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856074G>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2146G>C	19.37:g.53856074G>C	ENSP00000470005:p.Glu716Gln					ZNF845_uc010ydw.1_Missense_Mutation_p.E716Q	p.E716Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	2263	+			716	Missing (in Ref. 1; BAG58121).					Missense_Mutation	SNP	ENST00000595091.1	37	c.2146G>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845616	0.51164	.	.	ENSG00000213799	ENST00000458035	T	0.25912	1.77	2.22	-0.413	0.12363	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	L	0.57130	1.785	0.22666	N	0.998872	D	0.89917	1.0	D	0.77557	0.99	T	0.20140	-1.0284	9	0.66056	D	0.02	.	6.6558	0.22986	0.0:0.1975:0.5993:0.2032	.	716	Q96IR2	ZN845_HUMAN	Q	716	ENSP00000388311:E716Q	ENSP00000388311:E716Q	E	+	1	0	ZNF845	58547886	0.999000	0.42202	0.000000	0.03702	0.066000	0.16364	4.252000	0.58785	-0.147000	0.11254	0.461000	0.40582	GAG		0.418	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		37	118	0	0	0	0.004289	0	37	118		
CACNG6	59285	broad.mit.edu	37	19	54496189	54496189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54496189C>T	ENST00000252729.2	+	1	648	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CACNG6_ENST00000352529.1_Missense_Mutation_p.R20W|CACNG6_ENST00000346968.2_Missense_Mutation_p.R20W	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	20					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggccgcgggccggcggcgggc	0.746																																						uc002qct.2		NaN																	0				ovary(2)	2						c.(58-60)CGG>TGG		voltage-dependent calcium channel gamma-6							6.0	8.0	8.0					19																	54496189		1177	2651	3828	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54496189C>T	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.58C>T	19.37:g.54496189C>T	ENSP00000252729:p.Arg20Trp					CACNG6_uc002qcu.2_Missense_Mutation_p.R20W|CACNG6_uc002qcv.2_Missense_Mutation_p.R20W	p.R20W	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	1	648	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		20						Missense_Mutation	SNP	ENST00000252729.2	37	c.58C>T	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	18.57	3.652030	0.67472	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.33216	1.42;1.42;1.43	3.04	3.04	0.35103	.	0.456386	0.18791	U	0.131077	T	0.33323	0.0859	N	0.24115	0.695	0.26964	N	0.965731	D;D;D	0.76494	0.999;0.998;0.995	D;P;P	0.64877	0.93;0.799;0.635	T	0.04053	-1.0981	10	0.66056	D	0.02	-15.4865	6.132	0.20211	0.0:0.8548:0.0:0.1452	.	20;20;20	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	W	20	ENSP00000252729:R20W;ENSP00000319135:R20W;ENSP00000319097:R20W	ENSP00000252729:R20W	R	+	1	2	CACNG6	59188001	0.120000	0.22244	0.996000	0.52242	0.896000	0.52359	-0.017000	0.12590	1.709000	0.51313	0.471000	0.43371	CGG		0.746	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1				4	31	0	0	0	0.000248	0	4	31		
TTYH1	57348	broad.mit.edu	37	19	54933464	54933464	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:54933464G>C	ENST00000376530.3	+	4	621	c.518G>C	c.(517-519)cGa>cCa	p.R173P	TTYH1_ENST00000391739.3_Missense_Mutation_p.R222P|TTYH1_ENST00000301194.4_Missense_Mutation_p.R173P|TTYH1_ENST00000376531.3_Missense_Mutation_p.R173P	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	173					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCTGCCGCCCGAGGGGCTCGA	0.711																																						uc002qfq.2		NaN																	0					0						c.(517-519)CGA>CCA		tweety 1 isoform 1							8.0	9.0	8.0					19																	54933464		2104	4108	6212	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54933464G>C	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.518G>C	19.37:g.54933464G>C	ENSP00000365713:p.Arg173Pro					TTYH1_uc010yey.1_Missense_Mutation_p.R222P|TTYH1_uc002qfr.2_Missense_Mutation_p.R173P|TTYH1_uc002qft.2_Missense_Mutation_p.R173P|TTYH1_uc002qfu.1_Missense_Mutation_p.R85P	p.R173P	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	4	610	+	Ovarian(34;0.19)		173			Extracellular (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.518G>C	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032379	0.54790	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000002	T	0.36276	0.0961	L	0.61387	1.9	0.48975	D	0.999734	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.996	T	0.02015	-1.1229	10	0.59425	D	0.04	-29.4738	17.0423	0.86493	0.0:0.0:1.0:0.0	.	222;85;173;173;173	B7Z1H9;Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;.;TTYH1_HUMAN	P	173;173;222;222;173	ENSP00000301194:R173P;ENSP00000365713:R173P;ENSP00000393592:R222P;ENSP00000375619:R222P;ENSP00000365714:R173P	ENSP00000301194:R173P	R	+	2	0	TTYH1	59625276	0.917000	0.31117	0.160000	0.22671	0.037000	0.13140	3.155000	0.50700	2.701000	0.92244	0.655000	0.94253	CGA		0.711	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1				4	9	0	0	0	0.000248	0	4	9		
NCR1	9437	broad.mit.edu	37	19	55420603	55420603	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55420603G>A	ENST00000291890.4	+	4	393		c.e4-1		NCR1_ENST00000598576.1_Splice_Site|NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000357397.5_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000594765.1_Splice_Site|NCR1_ENST00000350790.5_Splice_Site	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTCTCTCATAGAAATGTATGA	0.493																																						uc002qib.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.e4-1		natural cytotoxicity triggering receptor 1							71.0	64.0	66.0					19																	55420603		2203	4300	6503	SO:0001630	splice_region_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420603G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.356-1G>A	19.37:g.55420603G>A						NCR1_uc002qic.2_Splice_Site_p.E119_splice|NCR1_uc002qie.2_Splice_Site_p.E119_splice|NCR1_uc002qid.2_Splice_Site_p.Q24_splice|NCR1_uc002qif.2_Splice_Site_p.Q24_splice|NCR1_uc010esj.2_Splice_Site_p.E12_splice	p.E119_splice	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	394	+								B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Splice_Site	SNP	ENST00000291890.4	37	c.356_splice	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	.	9.858	1.195531	0.22037	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8815	0.46942	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCR1	60112415	0.474000	0.25886	0.426000	0.26672	0.396000	0.30629	3.119000	0.50422	2.284000	0.76573	0.591000	0.81541	.		0.493	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			Intron	5	65	0	0	0	0.001168	0	5	65		
RDH13	112724	broad.mit.edu	37	19	55570559	55570559	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:55570559G>A	ENST00000415061.3	-	2	293	c.150C>T	c.(148-150)atC>atT	p.I50I	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	50					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TCTGCTTCCCGATGCCTGTGT	0.572																																						uc002qio.3		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(148-150)ATC>ATT		retinol dehydrogenase 13 isoform 1	Vitamin A(DB00162)						38.0	35.0	36.0					19																	55570559		1568	3582	5150	SO:0001819	synonymous_variant	112724						binding|oxidoreductase activity	g.chr19:55570559G>A		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.150C>T	19.37:g.55570559G>A						RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron	p.I50I	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	2	335	-			50			NAD or NADP (By similarity).		Q6UX79|Q96G88	Silent	SNP	ENST00000415061.3	37	c.150C>T	CCDS54320.1																																																																																				0.572	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1		NM_138412		10	8	0	0	0	0.006214	0	10	8		
ZNF471	57573	broad.mit.edu	37	19	57036421	57036421	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:57036421G>A	ENST00000308031.5	+	5	1118	c.985G>A	c.(985-987)Gat>Aat	p.D329N	ZNF471_ENST00000591537.1_Silent_p.V188V|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTTCAGTGATGGCTCGTC	0.433																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(985-987)GAT>AAT		zinc finger protein 471							54.0	58.0	57.0					19																	57036421		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036421G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.985G>A	19.37:g.57036421G>A	ENSP00000309161:p.Asp329Asn						p.D329N	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1118	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	329			C2H2-type 5.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.985G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	9.084	0.999986	0.19121	.	.	ENSG00000196263	ENST00000308031	T	0.35789	1.29	4.0	0.0477	0.14281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41903	0.1179	N	0.25890	0.77	0.09310	N	1	D	0.69078	0.997	D	0.66196	0.942	T	0.46020	-0.9221	9	0.23302	T	0.38	.	14.6258	0.68621	0.0:0.5506:0.4494:0.0	.	329	Q9BX82	ZN471_HUMAN	N	329	ENSP00000309161:D329N	ENSP00000309161:D329N	D	+	1	0	ZNF471	61728233	0.000000	0.05858	0.301000	0.25044	0.993000	0.82548	-2.847000	0.00734	0.283000	0.22279	0.462000	0.41574	GAT		0.433	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1		NM_020813		21	91	0	0	0	0.003954	0	21	91		
ZNF549	256051	broad.mit.edu	37	19	58049333	58049333	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58049333G>A	ENST00000376233.3	+	4	1142	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E308K|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCACTTGTGGAACACCAGAG	0.438																																						uc002qpb.1		NaN																	0				ovary(1)	1						c.(961-963)GAA>AAA		zinc finger protein 549							107.0	104.0	105.0					19																	58049333		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049333G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.961G>A	19.37:g.58049333G>A	ENSP00000365407:p.Glu321Lys					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E308K	p.E321K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1210	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	321			C2H2-type 4.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.961G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	2.664	-0.279078	0.05642	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.16073	2.37;2.37	2.6	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	N	0.02391	-0.57	0.09310	N	1	B;B	0.18610	0.013;0.029	B;B	0.20384	0.002;0.029	T	0.44003	-0.9356	9	0.13853	T	0.58	.	3.8217	0.08837	0.3621:0.382:0.2559:0.0	.	321;308	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	308;321	ENSP00000240719:E308K;ENSP00000365407:E321K	ENSP00000240719:E308K	E	+	1	0	ZNF549	62741145	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-2.400000	0.01049	0.004000	0.14682	0.585000	0.79938	GAA		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1		NM_153263		21	90	0	0	0	0.001523	0	21	90		
ZSCAN1	284312	broad.mit.edu	37	19	58551908	58551908	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58551908C>T	ENST00000282326.1	+	4	708	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	154					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAAGAACCATCGCAGGTGAGC	0.627																																						uc002qrc.1		NaN																	0				ovary(2)	2						c.(460-462)TCG>TTG		zinc finger and SCAN domain containing 1							81.0	87.0	85.0					19																	58551908		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551908C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.461C>T	19.37:g.58551908C>T	ENSP00000282326:p.Ser154Leu						p.S154L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	708	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	154					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.461C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567458	0.28003	.	.	ENSG00000152467	ENST00000282326	T	0.04603	3.59	1.09	-0.0616	0.13784	.	.	.	.	.	T	0.02418	0.0074	N	0.19112	0.55	0.58432	D	0.999998	B	0.30709	0.291	B	0.18561	0.022	T	0.54931	-0.8219	9	0.24483	T	0.36	.	4.964	0.14082	0.0:0.6128:0.3872:0.0	.	154	Q8NBB4	ZSCA1_HUMAN	L	154	ENSP00000282326:S154L	ENSP00000282326:S154L	S	+	2	0	ZSCAN1	63243720	0.010000	0.17322	0.960000	0.40013	0.814000	0.46013	0.139000	0.16036	0.020000	0.15106	0.313000	0.20887	TCG		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572		9	172	0	0	0	0.006214	0	9	172		
ZSCAN22	342945	broad.mit.edu	37	19	58850581	58850581	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850581G>C	ENST00000329665.4	+	3	1512	c.1365G>C	c.(1363-1365)caG>caC	p.Q455H		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	455					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTGAGCACCAGAGGATCCACA	0.542																																						uc002qsc.2		NaN																	0				pancreas(1)	1						c.(1363-1365)CAG>CAC		zinc finger and SCAN domain containing 22							82.0	77.0	79.0					19																	58850581		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850581G>C	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1365G>C	19.37:g.58850581G>C	ENSP00000332433:p.Gln455His					ZSCAN22_uc010yhz.1_3'UTR	p.Q455H	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1512	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	455			C2H2-type 7.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1365G>C	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977208	0.53720	.	.	ENSG00000182318	ENST00000329665	T	0.07567	3.18	3.84	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	M	0.67625	2.065	0.29920	N	0.822803	D	0.56968	0.978	P	0.55260	0.772	T	0.04693	-1.0933	9	0.45353	T	0.12	.	5.2463	0.15498	0.2332:0.0:0.7668:0.0	.	455	P10073	ZSC22_HUMAN	H	455	ENSP00000332433:Q455H	ENSP00000332433:Q455H	Q	+	3	2	ZSCAN22	63542393	0.008000	0.16893	0.965000	0.40720	0.894000	0.52154	1.049000	0.30392	2.122000	0.65172	0.563000	0.77884	CAG		0.542	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1		NM_181846		14	116	0	0	0	0.001855	0	14	116		
ZSCAN22	342945	broad.mit.edu	37	19	58850597	58850597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:58850597G>C	ENST00000329665.4	+	3	1528	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	461					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCACACGGGAGAGAAGCCTTA	0.542																																						uc002qsc.2		NaN																	0				pancreas(1)	1						c.(1381-1383)GAG>CAG		zinc finger and SCAN domain containing 22							78.0	71.0	74.0					19																	58850597		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850597G>C	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1381G>C	19.37:g.58850597G>C	ENSP00000332433:p.Glu461Gln					ZSCAN22_uc010yhz.1_3'UTR	p.E461Q	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1528	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	461					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1381G>C	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692035	0.68271	.	.	ENSG00000182318	ENST00000329665	T	0.25912	1.77	4.06	1.89	0.25635	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43122	0.1233	M	0.73372	2.23	0.36476	D	0.867559	D	0.89917	1.0	D	0.69824	0.966	T	0.51434	-0.8706	9	0.87932	D	0	.	6.4054	0.21662	0.1034:0.0:0.7106:0.186	.	461	P10073	ZSC22_HUMAN	Q	461	ENSP00000332433:E461Q	ENSP00000332433:E461Q	E	+	1	0	ZSCAN22	63542409	1.000000	0.71417	0.842000	0.33263	0.916000	0.54674	4.881000	0.63114	1.008000	0.39264	0.563000	0.77884	GAG		0.542	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1		NM_181846		8	110	0	0	0	0.004482	0	8	110		
ZBTB45	84878	broad.mit.edu	37	19	59025544	59025544	+	Silent	SNP	C	C	T	rs200156258		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr19:59025544C>T	ENST00000594051.1	-	3	1893	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	SLC27A5_ENST00000601355.1_5'Flank|SLC27A5_ENST00000263093.2_5'Flank|ZBTB45_ENST00000354590.3_Silent_p.K471K|ZBTB45_ENST00000600990.1_Silent_p.K471K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGAGCGAGCTCTTCTGCGTGA	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		9923	0.0		0.001	False		,,,				2504	0.0				NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NaN																	0					0						c.(1411-1413)AAG>AAA		zinc finger and BTB domain containing 45							26.0	26.0	26.0					19																	59025544		2199	4297	6496	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59025544C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1413G>A	19.37:g.59025544C>T						SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qte.2_Silent_p.K471K|ZBTB45_uc002qtf.2_Silent_p.K471K	p.K471K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	3	1705	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	471			C2H2-type 3.			Silent	SNP	ENST00000594051.1	37	c.1413G>A	CCDS12984.1																																																																																				0.682	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1		NM_032792		6	30	0	0	0	0.001984	0	6	30		
TMEM18	129787	broad.mit.edu	37	2	675513	675513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:675513G>T	ENST00000281017.3	-	2	268	c.175C>A	c.(175-177)Cta>Ata	p.L59I	TMEM18_ENST00000355654.2_Missense_Mutation_p.L46I|TMEM18_ENST00000405941.3_Missense_Mutation_p.L62I|AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	59					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TACTCACCTAGACACAGAAAG	0.483																																						uc002qwl.2		NaN																	0				ovary(1)	1						c.(175-177)CTA>ATA		transmembrane protein 18							141.0	127.0	132.0					2																	675513		2203	4300	6503	SO:0001583	missense	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:675513G>T	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.175C>A	2.37:g.675513G>T	ENSP00000281017:p.Leu59Ile					TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	p.L59I	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	2	269	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	59			Helical; (Potential).		D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	c.175C>A	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334581	0.24253	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.05	1.01	0.19927	.	0.410668	0.23019	N	0.052861	T	0.33527	0.0866	M	0.76002	2.32	0.09310	N	1	P	0.48294	0.908	B	0.40677	0.337	T	0.26430	-1.0103	9	0.59425	D	0.04	.	6.2687	0.20943	0.4233:0.0:0.5767:0.0	.	59	Q96B42	TMM18_HUMAN	I	59;46;62	.	ENSP00000281017:L59I	L	-	1	2	TMEM18	665513	0.939000	0.31865	0.261000	0.24466	0.212000	0.24457	0.184000	0.16939	0.314000	0.23086	0.591000	0.81541	CTA		0.483	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1		NM_152834		9	113	1	0	3.86212e-05	0.008291	4.61915e-05	9	113		
SNTG2	54221	broad.mit.edu	37	2	1263181	1263181	+	Missense_Mutation	SNP	C	C	G	rs145354756		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:1263181C>G	ENST00000308624.5	+	13	1174	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	SNTG2_ENST00000407292.1_Missense_Mutation_p.H222D	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	349	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.H349Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGGACCTATCACCTCTGTGA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20279	0.0		0.0	False		,,,				2504	0.0					uc002qwq.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1045-1047)CAC>GAC		syntrophin, gamma 2		C	ASP/HIS	3,3751		0,3,1874	105.0	101.0	103.0		1045	-2.4	0.1	2	dbSNP_134	103	0,8232		0,0,4116	yes	missense	SNTG2	NM_018968.3	81	0,3,5990	GG,GC,CC		0.0,0.0799,0.025	benign	349/540	1263181	3,11983	1877	4116	5993	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263181C>G	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1045C>G	2.37:g.1263181C>G	ENSP00000311837:p.His349Asp					SNTG2_uc010ewi.2_Missense_Mutation_p.H222D	p.H349D	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1173	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	349			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1045C>G	CCDS46220.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	C	1.130	-0.652816	0.03480	7.99E-4	0.0	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.67865	1.77;-0.29	4.76	-2.44	0.06502	Pleckstrin homology domain (1);	0.217298	0.46442	D	0.000298	T	0.30727	0.0774	N	0.14661	0.345	0.25460	N	0.987922	B;B	0.25904	0.137;0.02	B;B	0.25140	0.058;0.016	T	0.12293	-1.0553	10	0.59425	D	0.04	.	2.3334	0.04241	0.4513:0.2483:0.0687:0.2316	.	222;349	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	D	349;222	ENSP00000311837:H349D;ENSP00000385020:H222D	ENSP00000311837:H349D	H	+	1	0	SNTG2	1245781	1.000000	0.71417	0.108000	0.21378	0.012000	0.07955	2.069000	0.41481	-0.781000	0.04548	-2.607000	0.00160	CAC		0.413	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		NM_018968		30	64	0	0	0	0.003755	0	30	64		
COLEC11	78989	broad.mit.edu	37	2	3660949	3660949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:3660949G>C	ENST00000349077.4	+	3	282	c.179G>C	c.(178-180)aGa>aCa	p.R60T	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000418971.2_Missense_Mutation_p.R74T|COLEC11_ENST00000236693.7_Missense_Mutation_p.E31Q|COLEC11_ENST00000402922.1_Missense_Mutation_p.R34T|COLEC11_ENST00000382062.2_Missense_Mutation_p.R60T|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000403096.3_Missense_Mutation_p.R34T|COLEC11_ENST00000487365.1_Intron	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	60					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGGCCTGGAAGAGTCGGCCCC	0.647																																						uc002qya.2		NaN																	0					0						c.(178-180)AGA>ACA		collectin sub-family member 11 isoform a							24.0	27.0	26.0					2																	3660949		2189	4297	6486	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3660949G>C	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.179G>C	2.37:g.3660949G>C	ENSP00000339168:p.Arg60Thr					COLEC11_uc002qxz.2_Missense_Mutation_p.E31Q|COLEC11_uc002qyb.2_Intron|COLEC11_uc002qyc.2_Missense_Mutation_p.R60T|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.R34T|COLEC11_uc010ewq.2_Intron|COLEC11_uc010ewr.2_Missense_Mutation_p.R34T|COLEC11_uc010ews.2_Intron	p.R60T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	3	327	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		60					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.179G>C	CCDS1649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398078|4.398078	0.83120|0.83120	.|.	.|.	ENSG00000118004|ENSG00000118004	ENST00000236693|ENST00000419002;ENST00000382062;ENST00000349077;ENST00000438814;ENST00000418971;ENST00000403096;ENST00000402922	T|D;D;D;D;D;D	0.05139|0.93488	3.49|-3.23;-1.74;-1.74;-1.74;-1.74;-3.23	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.047044	.|0.85682	.|D	.|0.000000	D|D	0.96294|0.96294	0.8791|0.8791	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	D|P;D;D;P	0.67145|0.63046	0.996|0.787;0.992;0.988;0.505	D|B;D;P;B	0.78314|0.71656	0.991|0.372;0.974;0.844;0.378	D|D	0.95971|0.95971	0.8970|0.8970	8|9	0.72032|0.42905	D|T	0.01|0.14	-16.6248|-16.6248	16.8007|16.8007	0.85613|0.85613	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	31|34;34;60;60	Q9BWP8-9|Q9BWP8-7;Q9BWP8-4;Q9BWP8-3;Q9BWP8	.|.;.;.;COL11_HUMAN	Q|T	31|36;60;60;74;74;34;34	ENSP00000236693:E31Q|ENSP00000371494:R60T;ENSP00000339168:R60T;ENSP00000393167:R74T;ENSP00000411770:R74T;ENSP00000385130:R34T;ENSP00000385653:R34T	ENSP00000236693:E31Q|ENSP00000339168:R60T	E|R	+|+	1|2	0|0	COLEC11|COLEC11	3638824|3638824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	6.777000|6.777000	0.75028|0.75028	2.243000|2.243000	0.73865|0.73865	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.647	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1		NM_024027		4	17	0	0	0	0.000602	0	4	17		
KLF11	8462	broad.mit.edu	37	2	10187909	10187909	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10187909C>G	ENST00000305883.1	+	3	607	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	KLF11_ENST00000535335.1_Missense_Mutation_p.L132V|KLF11_ENST00000540845.1_Missense_Mutation_p.L132V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	149				VVARALS -> QWPDSD (in Ref. 3). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GGCCAGAGCTCTGAGCGGGGG	0.612																																					Melanoma(56;431 1507 23687 50789)	uc002raf.1		NaN																	0				ovary(2)	2						c.(445-447)CTG>GTG		Kruppel-like factor 11							58.0	55.0	56.0					2																	10187909		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10187909C>G	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.445C>G	2.37:g.10187909C>G	ENSP00000307023:p.Leu149Val					KLF11_uc010yjc.1_Missense_Mutation_p.L132V	p.L149V	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	607	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		149	VVARALS -> QWPDSD (in Ref. 3).				B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.445C>G	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434699	0.12045	.	.	ENSG00000172059	ENST00000305883;ENST00000448523;ENST00000540845;ENST00000535335	T;T;T;T	0.64618	2.51;-0.11;2.5;2.5	5.18	4.09	0.47781	.	0.800018	0.10926	N	0.618870	T	0.57301	0.2044	M	0.61703	1.905	0.09310	N	1	P	0.37781	0.608	B	0.35413	0.202	T	0.51585	-0.8687	9	.	.	.	.	9.7237	0.40320	0.0:0.8335:0.0:0.1665	.	149	O14901	KLF11_HUMAN	V	149;132;132;132	ENSP00000307023:L149V;ENSP00000387866:L132V;ENSP00000444690:L132V;ENSP00000442722:L132V	.	L	+	1	2	KLF11	10105360	0.003000	0.15002	0.013000	0.15412	0.010000	0.07245	1.603000	0.36794	2.415000	0.81967	0.407000	0.27541	CTG		0.612	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3		NM_003597		23	51	0	0	0	0.00278	0	23	51		
RRM2	6241	broad.mit.edu	37	2	10269373	10269373	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:10269373G>C	ENST00000304567.5	+	10	1099	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	RRM2_ENST00000360566.2_Missense_Mutation_p.E404Q	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	344					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TTTCAGAGTAGAGAACCCATT	0.378																																						uc002rah.2		NaN																	0					0						c.(1030-1032)GAG>CAG		ribonucleotide reductase M2 polypeptide isoform							67.0	68.0	68.0					2																	10269373		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10269373G>C		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.1030G>C	2.37:g.10269373G>C	ENSP00000302955:p.Glu344Gln						p.E344Q	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	10	1221	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		344					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.1030G>C	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137904	0.56936	.	.	ENSG00000171848	ENST00000360566;ENST00000304567	D;D	0.97811	-4.55;-4.55	5.67	5.67	0.87782	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	M	0.66506	2.035	0.58432	D	0.999996	B	0.18610	0.029	B	0.21917	0.037	D	0.94295	0.7532	10	0.39692	T	0.17	-16.143	19.7784	0.96405	0.0:0.0:1.0:0.0	.	344	P31350	RIR2_HUMAN	Q	404;344	ENSP00000353770:E404Q;ENSP00000302955:E344Q	ENSP00000302955:E344Q	E	+	1	0	RRM2	10186824	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.624000	0.98398	2.673000	0.90976	0.557000	0.71058	GAG		0.378	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2				9	53	0	0	0	0.004482	0	9	53		
GREB1	9687	broad.mit.edu	37	2	11756766	11756766	+	Missense_Mutation	SNP	C	C	G	rs368967242		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:11756766C>G	ENST00000381486.2	+	21	3632	c.3332C>G	c.(3331-3333)tCg>tGg	p.S1111W	GREB1_ENST00000234142.5_Missense_Mutation_p.S1111W|GREB1_ENST00000396123.1_Missense_Mutation_p.S109W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1111	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTCTACCTCGGAGAAGAGA	0.542																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	0				ovary(1)	1						c.(3331-3333)TCG>TGG		growth regulation by estrogen in breast cancer 1							201.0	222.0	215.0					2																	11756766		2047	4205	6252	SO:0001583	missense	9687					integral to membrane		g.chr2:11756766C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3332C>G	2.37:g.11756766C>G	ENSP00000370896:p.Ser1111Trp					GREB1_uc002rbp.1_Missense_Mutation_p.S109W	p.S1111W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	21	3632	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1111			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3332C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366502	0.41902	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.25912	3.09;3.09;1.77	5.08	1.18	0.20946	.	0.329584	0.25587	N	0.029659	T	0.27832	0.0685	L	0.29908	0.895	0.23879	N	0.996589	P	0.52842	0.956	P	0.53549	0.729	T	0.14559	-1.0468	10	0.87932	D	0	-36.813	11.5472	0.50700	0.0:0.7772:0.0:0.2228	.	1111	Q4ZG55	GREB1_HUMAN	W	1111;1111;109	ENSP00000370896:S1111W;ENSP00000234142:S1111W;ENSP00000379429:S109W	ENSP00000234142:S1111W	S	+	2	0	GREB1	11674217	0.023000	0.18921	0.133000	0.22050	0.701000	0.40568	1.008000	0.29872	-0.071000	0.12886	-1.305000	0.01319	TCG		0.542	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		27	168	0	0	0	0.00632	0	27	168		
MYCN	4613	broad.mit.edu	37	2	16082244	16082244	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:16082244G>C	ENST00000281043.3	+	2	355	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000453400.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	20					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCAGACCTCGAGTTTGACTC	0.642			A		neuroblastoma																																	uc002rci.2		NaN		Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(58-60)GAG>CAG		v-myc myelocytomatosis viral related oncogene,							52.0	55.0	54.0					2																	16082244		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082244G>C	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.58G>C	2.37:g.16082244G>C	ENSP00000281043:p.Glu20Gln					MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.E12Q	p.E20Q	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	358	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		20					Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.58G>C	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782352	0.90282	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.20598	2.06	3.38	3.38	0.38709	Transcription regulator Myc, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.47229	0.1434	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56505	-0.7968	10	0.72032	D	0.01	-16.9133	15.1222	0.72453	0.0:0.0:1.0:0.0	.	20	P04198	MYCN_HUMAN	Q	20	ENSP00000281043:E20Q	ENSP00000281043:E20Q	E	+	1	0	MYCN	15999695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.548000	0.98103	1.604000	0.50143	0.561000	0.74099	GAG		0.642	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2		NM_005378		5	41	0	0	0	0.000602	0	5	41		
HADHA	3030	broad.mit.edu	37	2	26414459	26414459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26414459C>G	ENST00000380649.3	-	19	2168	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	680					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCACAAATCTTGTCACCAG	0.542																																						uc002rgy.2		NaN																	0				ovary(1)	1						c.(2038-2040)AGA>ACA		mitochondrial trifunctional protein, alpha	NADH(DB00157)						68.0	66.0	67.0					2																	26414459		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26414459C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.2039G>C	2.37:g.26414459C>G	ENSP00000370023:p.Arg680Thr					HADHA_uc010yks.1_Missense_Mutation_p.R593T	p.R680T	NM_000182	NP_000173	P40939	ECHA_HUMAN			19	2169	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		680					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.2039G>C	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922826	0.92319	.	.	ENSG00000084754	ENST00000380649;ENST00000492433	D;D	0.87729	-2.29;-2.29	5.41	5.41	0.78517	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92242	0.5801	10	0.46703	T	0.11	-18.1648	17.0318	0.86463	0.0:1.0:0.0:0.0	.	680;680	E9KL44;P40939	.;ECHA_HUMAN	T	680;166	ENSP00000370023:R680T;ENSP00000438039:R166T	ENSP00000370023:R680T	R	-	2	0	HADHA	26267963	0.956000	0.32656	0.987000	0.45799	0.992000	0.81027	7.470000	0.80973	2.701000	0.92244	0.591000	0.81541	AGA		0.542	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1		NM_000182		38	61	0	0	0	0.007835	0	38	61		
HADHB	3032	broad.mit.edu	37	2	26501592	26501592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:26501592G>C	ENST00000317799.5	+	8	657	c.553G>C	c.(553-555)Gat>Cat	p.D185H	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.D163H|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.D170H	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	185					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGATGCTTGATCTCAATAA	0.453																																						uc002rgz.2		NaN																	0				ovary(1)|breast(1)	2						c.(553-555)GAT>CAT		mitochondrial trifunctional protein, beta							211.0	204.0	206.0					2																	26501592		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26501592G>C		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.553G>C	2.37:g.26501592G>C	ENSP00000325136:p.Asp185His					HADHB_uc010ykv.1_Missense_Mutation_p.D163H|HADHB_uc010ykw.1_Missense_Mutation_p.D170H|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.D111H	p.D185H	NM_000183	NP_000174	P55084	ECHB_HUMAN			8	804	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		185					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.553G>C	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442486	0.43326	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.90563	-2.69;-2.69;-2.69	5.58	5.58	0.84498	Thiolase, N-terminal (1);Thiolase-like (1);	0.277550	0.44285	D	0.000476	D	0.84061	0.5389	L	0.37850	1.14	0.33419	D	0.579611	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.15484	0.004;0.013;0.008	T	0.80317	-0.1433	9	.	.	.	-13.7251	9.021	0.36200	0.1562:0.0:0.8438:0.0	.	170;163;185	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	H	185;170;163	ENSP00000325136:D185H;ENSP00000444295:D170H;ENSP00000442665:D163H	.	D	+	1	0	HADHB	26355096	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.920000	0.56446	2.788000	0.95919	0.650000	0.86243	GAT		0.453	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2		NM_000183		12	81	0	0	0	0.000978	0	12	81		
PPP1CB	5500	broad.mit.edu	37	2	29016810	29016810	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29016810G>C	ENST00000395366.2	+	7	1098	c.826G>C	c.(826-828)Gat>Cat	p.D276H	PPP1CB_ENST00000296122.6_Missense_Mutation_p.D276H|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.D276H	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	276					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGGCGAGTTTGATAATGCTGG	0.348																																						uc002rmg.2		NaN																	0				skin(1)	1						c.(826-828)GAT>CAT		protein phosphatase 1, catalytic subunit, beta							142.0	130.0	134.0					2																	29016810		2203	4300	6503	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29016810G>C		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.826G>C	2.37:g.29016810G>C	ENSP00000378769:p.Asp276His					PPP1CB_uc010ymj.1_Missense_Mutation_p.D248H|PPP1CB_uc010yml.1_Missense_Mutation_p.D248H|PPP1CB_uc002rmh.2_Missense_Mutation_p.D276H|SPDYA_uc002rmi.2_5'UTR	p.D276H	NM_206876	NP_996759	P62140	PP1B_HUMAN			8	986	+	Acute lymphoblastic leukemia(172;0.155)		276					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.826G>C	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357209	0.82243	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	T;T;T	0.06068	3.35;3.35;3.35	5.17	4.29	0.51040	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.042505	0.85682	D	0.000000	T	0.30103	0.0754	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.35500	-0.9786	10	0.87932	D	0	-12.81	13.8399	0.63432	0.0743:0.0:0.9257:0.0	.	276	P62140	PP1B_HUMAN	H	276	ENSP00000351298:D276H;ENSP00000296122:D276H;ENSP00000378769:D276H	ENSP00000296122:D276H	D	+	1	0	PPP1CB	28870314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.307000	0.44944	0.585000	0.79938	GAT		0.348	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1				25	53	0	0	0	0.00333	0	25	53		
ALK	238	broad.mit.edu	37	2	29519819	29519819	+	Silent	SNP	G	G	A	rs367912697		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:29519819G>A	ENST00000389048.3	-	9	2658	c.1752C>T	c.(1750-1752)gtC>gtT	p.V584V	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	584	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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.V584V(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)	CATAGGCGGCGACATGCCAGA	0.557			"""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		NaN	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)		large_intestine(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.(1750-1752)GTC>GTT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						152.0	117.0	129.0					2																	29519819		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.chr2:29519819G>A	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.1752C>T	2.37:g.29519819G>A							p.V584V	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			9	2659	-	Acute lymphoblastic leukemia(172;0.155)		584			MAM 2.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1752C>T	CCDS33172.1																																																																																				0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1		NM_004304		12	38	0	0	0	0.001368	0	12	38		
BIRC6	57448	broad.mit.edu	37	2	32678919	32678919	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:32678919C>T	ENST00000421745.2	+	23	4796	c.4662C>T	c.(4660-4662)ttC>ttT	p.F1554F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1554					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGGTAGTTTCACATCTCTCA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4660-4662)TTC>TTT		baculoviral IAP repeat-containing 6							207.0	190.0	195.0					2																	32678919		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32678919C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4662C>T	2.37:g.32678919C>T							p.F1554F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			23	4796	+	Acute lymphoblastic leukemia(172;0.155)		1554					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.4662C>T	CCDS33175.2																																																																																				0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		70	125	0	0	0	0.00361	0	70	125		
EIF2AK2	5610	broad.mit.edu	37	2	37374019	37374019	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:37374019C>G	ENST00000233057.4	-	4	539	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E73Q|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E73Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	73	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTAAGTATCTCAACAGCTAAT	0.343																																						uc010ynh.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(217-219)GAG>CAG		eukaryotic translation initiation factor 2-alpha							153.0	147.0	149.0					2																	37374019		2203	4299	6502	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37374019C>G	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.217G>C	2.37:g.37374019C>G	ENSP00000233057:p.Glu73Gln					EIF2AK2_uc010fab.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E73Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E73Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E73Q	p.E73Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN			4	774	-		all_hematologic(82;0.248)	73			DRBM 1.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.217G>C	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089741	0.55968	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.65	3.85	0.44370	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.824969	0.10840	N	0.628340	T	0.77232	0.4100	L	0.48877	1.53	0.09310	N	1	D;D;D;P	0.61697	0.99;0.969;0.969;0.888	P;P;P;P	0.57960	0.83;0.765;0.765;0.653	T	0.63954	-0.6520	10	0.52906	T	0.07	-8.1302	7.5821	0.27972	0.0:0.8141:0.0:0.1859	.	73;73;73;73	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	Q	73	ENSP00000233057:E73Q;ENSP00000378559:E73Q;ENSP00000385014:E73Q;ENSP00000393921:E73Q;ENSP00000374663:E73Q	ENSP00000233057:E73Q	E	-	1	0	EIF2AK2	37227523	0.000000	0.05858	0.008000	0.14137	0.102000	0.19082	0.316000	0.19469	1.383000	0.46405	0.650000	0.86243	GAG		0.343	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		NM_002759		26	64	0	0	0	0.003954	0	26	64		
SOS1	6654	broad.mit.edu	37	2	39249913	39249913	+	Missense_Mutation	SNP	C	C	G	rs267607079		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39249913C>G	ENST00000426016.1	-	11	1742	c.1656G>C	c.(1654-1656)agG>agC	p.R552S	SOS1_ENST00000402219.2_Missense_Mutation_p.R552S|SOS1_ENST00000395038.2_Missense_Mutation_p.R552S|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	552			R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation; dbSNP:rs137852814). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:21387466}.|R -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.|R -> M (in NS4). {ECO:0000269|PubMed:21387466}.|R -> S (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.|R -> T (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CATCAAGCATCCTTTCCAGTG	0.403									Noonan syndrome																													uc002rrk.3		NaN																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	GRCh37	CM070274	SOS1	M		c.(1654-1656)AGG>AGC		son of sevenless homolog 1							157.0	148.0	151.0					2																	39249913		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39249913C>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1656G>C	2.37:g.39249913C>G	ENSP00000387784:p.Arg552Ser					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.R166S|SOS1_uc002rrl.2_Missense_Mutation_p.R284S	p.R552S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1697	-		all_hematologic(82;0.21)	552		R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation).|R -> S (in NS4).|R -> K (in NS4).			A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1656G>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.909940	0.52439	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88509	-2.39;-2.39;-2.39	5.78	3.01	0.34805	.	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.91177	0.4973	10	0.87932	D	0	.	5.8918	0.18917	0.0:0.5963:0.1272:0.2765	.	284;552	F5GX06;Q07889	.;SOS1_HUMAN	S	552;552;284;552;552	ENSP00000387784:R552S;ENSP00000384675:R552S;ENSP00000378479:R552S	ENSP00000263879:R552S	R	-	3	2	SOS1	39103417	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.595000	0.24029	0.357000	0.24183	0.557000	0.71058	AGG		0.403	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633		29	83	0	0	0	0.008361	0	29	83		
SOS1	6654	broad.mit.edu	37	2	39250197	39250197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39250197C>T	ENST00000426016.1	-	11	1458	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	SOS1_ENST00000402219.2_Missense_Mutation_p.E458K|SOS1_ENST00000395038.2_Missense_Mutation_p.E458K|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTGTCTCTCATGTTTGGCT	0.388									Noonan syndrome																													uc002rrk.3		NaN																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1372-1374)GAG>AAG		son of sevenless homolog 1							115.0	108.0	110.0					2																	39250197		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250197C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1372G>A	2.37:g.39250197C>T	ENSP00000387784:p.Glu458Lys					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.E72K|SOS1_uc002rrl.2_Missense_Mutation_p.E190K	p.E458K	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1413	-		all_hematologic(82;0.21)	458			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1372G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636198	0.87760	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.88431	-2.38;-2.38;-2.38	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	L	0.54908	1.71	0.80722	D	1	P;D	0.57899	0.937;0.981	P;P	0.54238	0.63;0.746	D	0.92014	0.5620	10	0.72032	D	0.01	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	190;458	F5GX06;Q07889	.;SOS1_HUMAN	K	458;458;190;458;458	ENSP00000387784:E458K;ENSP00000384675:E458K;ENSP00000378479:E458K	ENSP00000263879:E458K	E	-	1	0	SOS1	39103701	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.669000	0.83911	2.753000	0.94483	0.557000	0.71058	GAG		0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633		37	75	0	0	0	0.004878	0	37	75		
MAP4K3	8491	broad.mit.edu	37	2	39477777	39477777	+	Silent	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39477777A>G	ENST00000263881.3	-	34	2991	c.2667T>C	c.(2665-2667)ggT>ggC	p.G889G	MAP4K3_ENST00000437545.1_Silent_p.G805G|MAP4K3_ENST00000536018.1_Silent_p.G442G|MAP4K3_ENST00000341681.5_Silent_p.G868G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	889					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTTTTCATGACCCGCCAGGA	0.378																																						uc002rro.2		NaN																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2665-2667)GGT>GGC		mitogen-activated protein kinase kinase kinase							140.0	121.0	127.0					2																	39477777		2203	4300	6503	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39477777A>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2667T>C	2.37:g.39477777A>G						MAP4K3_uc002rrp.2_Silent_p.G868G|MAP4K3_uc010yns.1_Silent_p.G442G	p.G889G	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			34	2758	-		all_hematologic(82;0.211)	889					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.2667T>C	CCDS1803.1																																																																																				0.378	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618		7	35	0	0	0	0.00308	0	7	35		
MAP4K3	8491	broad.mit.edu	37	2	39505625	39505625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:39505625G>A	ENST00000263881.3	-	24	2041	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.Q489*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.Q126*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.Q552*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	573	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATCAAGTACTGATCTGAAATA	0.264																																						uc002rro.2		NaN																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1717-1719)CAG>TAG		mitogen-activated protein kinase kinase kinase							51.0	50.0	50.0					2																	39505625		2201	4293	6494	SO:0001587	stop_gained	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39505625G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1717C>T	2.37:g.39505625G>A	ENSP00000263881:p.Gln573*					MAP4K3_uc002rrp.2_Nonsense_Mutation_p.Q552*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.Q126*	p.Q573*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			24	1808	-		all_hematologic(82;0.211)	573			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	ENST00000263881.3	37	c.1717C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	g	38	6.865106	0.97897	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.53	4.66	0.58398	.	0.054416	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.6155	0.84915	0.0:0.1302:0.8698:0.0	.	.	.	.	X	573;489;552;126	.	ENSP00000263881:Q573X	Q	-	1	0	MAP4K3	39359129	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.900000	0.87376	1.350000	0.45770	-0.121000	0.15023	CAG		0.264	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618		6	37	0	0	0	0.001984	0	6	37		
PLEKHH2	130271	broad.mit.edu	37	2	43937240	43937240	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43937240C>T	ENST00000282406.4	+	12	2188	c.2078C>T	c.(2077-2079)tCa>tTa	p.S693L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	693	Poly-Ser.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAACTTGCTCATCTTCCAGT	0.398																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2077-2079)TCA>TTA		pleckstrin homology domain containing, family H							99.0	98.0	99.0					2																	43937240		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937240C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2078C>T	2.37:g.43937240C>T	ENSP00000282406:p.Ser693Leu					PLEKHH2_uc002rte.3_Missense_Mutation_p.S693L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S692L	p.S693L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			12	2161	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	693			Poly-Ser.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2078C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466186	0.43839	.	.	ENSG00000152527	ENST00000282406	T	0.75821	-0.97	5.23	2.23	0.28157	.	0.473907	0.22592	N	0.058061	T	0.58438	0.2122	L	0.28400	0.85	0.39838	D	0.973068	B;B;B	0.23249	0.003;0.001;0.082	B;B;B	0.22601	0.013;0.003;0.04	T	0.49835	-0.8897	10	0.28530	T	0.3	-1.0782	8.1995	0.31417	0.0:0.7252:0.1296:0.1452	.	693;130;693	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	L	693	ENSP00000282406:S693L	ENSP00000282406:S693L	S	+	2	0	PLEKHH2	43790744	0.021000	0.18746	0.007000	0.13788	0.984000	0.73092	0.988000	0.29616	0.563000	0.29222	0.563000	0.77884	TCA		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		11	100	0	0	0	0.008291	0	11	100		
PLEKHH2	130271	broad.mit.edu	37	2	43992600	43992600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:43992600C>T	ENST00000282406.4	+	30	4455	c.4345C>T	c.(4345-4347)Cag>Tag	p.Q1449*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1449	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAACTTCCATCAGCAAAAGGC	0.468																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(4345-4347)CAG>TAG		pleckstrin homology domain containing, family H							91.0	94.0	93.0					2																	43992600		2203	4300	6503	SO:0001587	stop_gained	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43992600C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4345C>T	2.37:g.43992600C>T	ENSP00000282406:p.Gln1449*						p.Q1449*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			30	4428	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1449			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	c.4345C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	43	10.244106	0.99367	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.65	5.65	0.86999	.	0.055403	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-18.8844	19.7343	0.96195	0.0:1.0:0.0:0.0	.	.	.	.	X	1449	.	ENSP00000282406:Q1449X	Q	+	1	0	PLEKHH2	43846104	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.339000	0.65953	2.660000	0.90430	0.467000	0.42956	CAG		0.468	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		27	53	0	0	0	0.001786	0	27	53		
SIX3	6496	broad.mit.edu	37	2	45169727	45169727	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:45169727C>T	ENST00000260653.3	+	1	826	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	162					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGGAGTCTCACGGCAAGCT	0.662																																						uc002run.1		NaN																	0					0						c.(484-486)CAC>TAC		SIX homeobox 3							14.0	17.0	16.0					2																	45169727		2168	4236	6404	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169727C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.484C>T	2.37:g.45169727C>T	ENSP00000260653:p.His162Tyr						p.H162Y	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	691	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	162					D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.484C>T	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330515	0.41297	.	.	ENSG00000138083	ENST00000260653	D	0.97186	-4.28	3.22	2.33	0.28932	.	0.000000	0.64402	U	0.000001	D	0.96343	0.8807	M	0.82323	2.585	0.53005	D	0.999966	B	0.28971	0.229	B	0.35413	0.202	D	0.94254	0.7496	10	0.56958	D	0.05	.	9.8204	0.40878	0.0:0.8932:0.0:0.1068	.	162	O95343	SIX3_HUMAN	Y	162	ENSP00000260653:H162Y	ENSP00000260653:H162Y	H	+	1	0	SIX3	45023231	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	7.359000	0.79477	0.537000	0.28751	0.484000	0.47621	CAC		0.662	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1		NM_005413		6	21	0	0	0	0.001984	0	6	21		
GPR75	10936	broad.mit.edu	37	2	54080974	54080974	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:54080974G>A	ENST00000394705.2	-	2	1190	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	307					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTGATGGCTGATACGAGCTG	0.532																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(919-921)TCA>TTA		G protein-coupled receptor 75							151.0	134.0	140.0					2																	54080974		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080974G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.920C>T	2.37:g.54080974G>A	ENSP00000378195:p.Ser307Leu					ASB3_uc002rxi.3_Intron	p.S307L	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1191	-			307			Cytoplasmic (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.920C>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309796	0.81247	.	.	ENSG00000119737	ENST00000394705	T	0.73681	-0.77	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.067864	0.64402	D	0.000010	D	0.82879	0.5133	.	.	.	0.80722	D	1	D	0.56968	0.978	P	0.55545	0.778	T	0.83019	-0.0168	9	0.48119	T	0.1	-6.9113	19.1308	0.93406	0.0:0.0:1.0:0.0	.	307	O95800	GPR75_HUMAN	L	307	ENSP00000378195:S307L	ENSP00000378195:S307L	S	-	2	0	GPR75	53934478	1.000000	0.71417	0.764000	0.31436	0.970000	0.65996	9.038000	0.93771	2.752000	0.94435	0.555000	0.69702	TCA		0.532	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				11	41	0	0	0	0.008291	0	11	41		
RAB11FIP5	26056	broad.mit.edu	37	2	73339501	73339501	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339501G>A	ENST00000258098.6	-	1	645	c.405C>T	c.(403-405)ttC>ttT	p.F135F	RP11-44N22.3_ENST00000608612.1_RNA	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	135					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCTGCGCCGAAGACCTCGT	0.711																																						uc002siu.3		NaN																	0					0						c.(403-405)TTC>TTT		RAB11 family interacting protein 5 (class I)							13.0	14.0	14.0					2																	73339501		1734	3542	5276	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73339501G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.405C>T	2.37:g.73339501G>A							p.F135F	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	646	-			135					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.405C>T	CCDS1923.1																																																																																				0.711	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		NM_015470		17	22	0	0	0	0.008871	0	17	22		
RAB11FIP5	26056	broad.mit.edu	37	2	73339600	73339600	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73339600G>A	ENST00000258098.6	-	1	546	c.306C>T	c.(304-306)tcC>tcT	p.S102S	RP11-44N22.3_ENST00000608612.1_RNA	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	102	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGCGGCGGCGGAGCTCGCGG	0.751																																						uc002siu.3		NaN																	0					0						c.(304-306)TCC>TCT		RAB11 family interacting protein 5 (class I)							3.0	4.0	4.0					2																	73339600		1541	3311	4852	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73339600G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.306C>T	2.37:g.73339600G>A							p.S102S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	547	-			102			C2.		O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.306C>T	CCDS1923.1																																																																																				0.751	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		NM_015470		6	14	0	0	0	0.001984	0	6	14		
Unknown	0	broad.mit.edu	37	2	73928087	73928087	+	IGR	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:73928087C>G								ALMS1P (15384 upstream) : TPRKB (28869 downstream)																							ACCACCTTCTCTTCAGATTCA	0.537																																						uc002sjk.1		NaN																	0					0						c.(346-348)GAG>CAG		N-acetyltransferase 8B							90.0	96.0	94.0					2																	73928087		2203	4300	6503	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928087C>G																													2.37:g.73928087C>G							p.E116Q	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			2	381	-			116			N-acetyltransferase.			Missense_Mutation	SNP		37	c.346G>C																																																																																				0	0.537										14	68	0	0	0	0.003163	0	14	68		
BOLA3	388962	broad.mit.edu	37	2	74372361	74372361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74372361C>G	ENST00000327428.5	-	2	243	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	BOLA3-AS1_ENST00000529783.1_RNA|BOLA3-AS1_ENST00000533563.1_RNA|BOLA3-AS1_ENST00000423477.2_RNA|BOLA3_ENST00000295326.4_Missense_Mutation_p.E42Q	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	42						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						GGAAACTTTTCTTTGAGAATT	0.478																																						uc002skc.1		NaN																	0					0						c.(124-126)GAA>CAA		bolA-like 3 isoform 1							100.0	99.0	100.0					2																	74372361		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74372361C>G	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.124G>C	2.37:g.74372361C>G	ENSP00000331369:p.Glu42Gln					BOLA3_uc002skd.1_Missense_Mutation_p.E42Q|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank	p.E42Q	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN			2	162	-			42					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.124G>C	CCDS33225.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581566	0.86748	.	.	ENSG00000163170	ENST00000327428;ENST00000295326	T	0.64991	-0.13	4.86	4.86	0.63082	.	0.109378	0.64402	D	0.000008	T	0.68201	0.2975	L	0.31752	0.955	0.50632	D	0.999887	D;D	0.76494	0.999;0.998	P;D	0.65874	0.9;0.939	T	0.71056	-0.4703	10	0.66056	D	0.02	-16.9913	15.8582	0.79000	0.0:1.0:0.0:0.0	.	42;42	G3XAB0;Q53S33	.;BOLA3_HUMAN	Q	42	ENSP00000331369:E42Q	ENSP00000295326:E42Q	E	-	1	0	BOLA3	74225869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.702000	0.92279	0.655000	0.94253	GAA		0.478	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2		NM_212552		10	74	0	0	0	0.006214	0	10	74		
DCTN1	1639	broad.mit.edu	37	2	74598163	74598163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74598163C>G	ENST00000361874.3	-	9	1103	c.786G>C	c.(784-786)aaG>aaC	p.K262N	DCTN1_ENST00000409240.1_Missense_Mutation_p.K225N|DCTN1_ENST00000407639.2_Missense_Mutation_p.K128N|DCTN1_ENST00000409868.1_Missense_Mutation_p.K245N|DCTN1_ENST00000394003.3_Missense_Mutation_p.K255N|DCTN1_ENST00000409438.1_Missense_Mutation_p.K128N|DCTN1_ENST00000409567.3_Missense_Mutation_p.K242N	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	262					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCATTTTGCTCTTCCATTCCT	0.552																																						uc002skx.2		NaN																	0				ovary(3)|skin(2)	5						c.(784-786)AAG>AAC		dynactin 1 isoform 1							222.0	233.0	229.0					2																	74598163		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598163C>G		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.786G>C	2.37:g.74598163C>G	ENSP00000354791:p.Lys262Asn					DCTN1_uc002skv.2_Missense_Mutation_p.K128N|DCTN1_uc002sku.2_Missense_Mutation_p.K128N|DCTN1_uc002skw.1_Missense_Mutation_p.K238N|DCTN1_uc010ffd.2_Missense_Mutation_p.K242N|DCTN1_uc002sky.2_Missense_Mutation_p.K225N	p.K262N	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			9	1097	-			262			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.786G>C	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303065	0.81136	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.80909	-0.96;-1.18;-1.01;-1.01;-1.43;-1.16;-1.21	5.51	3.67	0.42095	.	0.000000	0.45361	D	0.000379	D	0.89736	0.6801	M	0.89095	3.005	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.991;0.991;0.998;1.0;0.997;0.999	P;D;D;D;D;D	0.80764	0.848;0.92;0.981;0.994;0.964;0.991	D	0.89361	0.3668	10	0.62326	D	0.03	-15.1865	10.4364	0.44439	0.0:0.8354:0.0:0.1646	.	242;225;262;255;128;128	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	N	262;255;245;128;128;225;245;242	ENSP00000354791:K262N;ENSP00000377571:K255N;ENSP00000384844:K128N;ENSP00000387270:K128N;ENSP00000386406:K225N;ENSP00000387327:K245N;ENSP00000386843:K242N	ENSP00000354791:K262N	K	-	3	2	DCTN1	74451671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.047000	0.57383	0.651000	0.30788	0.655000	0.94253	AAG		0.552	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		NM_004082		59	373	0	0	0	0.00361	0	59	373		
LOXL3	84695	broad.mit.edu	37	2	74762786	74762786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:74762786C>T	ENST00000264094.3	-	8	1416	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	LOXL3_ENST00000393937.2_Missense_Mutation_p.D304N|LOXL3_ENST00000409986.1_Missense_Mutation_p.D304N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	449	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCCCCCAGTCATCCCCACAG	0.662																																						uc002smp.1		NaN																	0					0						c.(1345-1347)GAC>AAC		lysyl oxidase-like 3 precursor							60.0	73.0	69.0					2																	74762786		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762786C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1345G>A	2.37:g.74762786C>T	ENSP00000264094:p.Asp449Asn					LOXL3_uc002smo.1_Missense_Mutation_p.D88N|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.D304N|LOXL3_uc010ffn.1_Missense_Mutation_p.D304N	p.D449N	NM_032603	NP_115992	P58215	LOXL3_HUMAN			8	1417	-			449			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1345G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	2.157	-0.393109	0.04899	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409986	T;T;T	0.28069	1.63;1.63;1.63	5.02	3.21	0.36854	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.442134	0.27402	N	0.019537	T	0.07728	0.0194	N	0.01076	-1.035	0.29922	N	0.822663	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.12837	0.008;0.004;0.002	T	0.34750	-0.9816	10	0.02654	T	1	.	6.8631	0.24077	0.0:0.7212:0.0:0.2788	.	304;304;449	B9A025;Q6IPL7;P58215	.;.;LOXL3_HUMAN	N	449;304;304	ENSP00000264094:D449N;ENSP00000377512:D304N;ENSP00000386545:D304N	ENSP00000264094:D449N	D	-	1	0	LOXL3	74616294	0.091000	0.21658	1.000000	0.80357	0.984000	0.73092	0.863000	0.27913	0.818000	0.34468	0.563000	0.77884	GAC		0.662	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		23	114	0	0	0	0.00333	0	23	114		
GCFC2	6936	broad.mit.edu	37	2	75915007	75915007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:75915007C>G	ENST00000321027.3	-	11	1769	c.1636G>C	c.(1636-1638)Gat>Cat	p.D546H	GCFC2_ENST00000409857.3_Missense_Mutation_p.D508H|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	546					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										ACTTTTTTATCTGAACTACTT	0.348																																						uc002sno.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1636-1638)GAT>CAT		hypothetical protein LOC6936							91.0	95.0	93.0					2																	75915007		2203	4295	6498	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75915007C>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1636G>C	2.37:g.75915007C>G	ENSP00000318690:p.Asp546His					C2orf3_uc010ffs.2_Missense_Mutation_p.D108H|C2orf3_uc002snn.2_Missense_Mutation_p.D377H|C2orf3_uc010fft.2_Missense_Mutation_p.D221H	p.D546H	NM_003203	NP_003194	P16383	GCF_HUMAN			11	1766	-			546					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1636G>C	CCDS1961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.961190|2.961190	0.53400|0.53400	.|.	.|.	ENSG00000005436|ENSG00000005436	ENST00000321027;ENST00000409857|ENST00000427862	T;T|T	0.48522|0.46063	0.81;0.81|0.88	5.7|5.7	5.7|5.7	0.88788|0.88788	GC-rich sequence DNA-binding factor domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69628|0.69628	0.3132|0.3132	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.73836|0.73836	-0.3857|-0.3857	10|6	0.87932|.	D|.	0|.	-25.3586|-25.3586	17.7138|17.7138	0.88330|0.88330	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	546|.	P16383|.	GCF_HUMAN|.	H|H	546;508|4	ENSP00000318690:D546H;ENSP00000386552:D508H|ENSP00000409340:Q4H	ENSP00000318690:D546H|.	D|Q	-|-	1|3	0|2	C2orf3|C2orf3	75768515|75768515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.165000|0.165000	0.22458|0.22458	4.671000|4.671000	0.61590|0.61590	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CAG		0.348	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2		NM_003203		8	55	0	0	0	0.004482	0	8	55		
KCMF1	56888	broad.mit.edu	37	2	85262250	85262250	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85262250C>G	ENST00000409785.4	+	3	655	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	99							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CATGTTACTTCTGAACATGCA	0.378																																						uc002sox.3		NaN																	0				ovary(2)	2						c.(295-297)TCT>TGT		potassium channel modulatory factor 1							84.0	73.0	77.0					2																	85262250		1880	4118	5998	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85262250C>G	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.296C>G	2.37:g.85262250C>G	ENSP00000386738:p.Ser99Cys						p.S99C	NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN			3	640	+			99			C2H2-type.		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.296C>G	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353857	0.95830	.	.	ENSG00000176407	ENST00000409785;ENST00000453448	T	0.47869	0.83	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Drought induced 19/ RING finger protein 114 (1);Zinc finger, C2H2 (1);	0.111283	0.64402	D	0.000005	T	0.60932	0.2307	L	0.52905	1.665	0.80722	D	1	D	0.63880	0.993	P	0.57101	0.813	T	0.60480	-0.7255	10	0.62326	D	0.03	-11.6047	17.9189	0.88960	0.0:1.0:0.0:0.0	.	99	Q9P0J7	KCMF1_HUMAN	C	99;48	ENSP00000386738:S99C	ENSP00000386738:S99C	S	+	2	0	KCMF1	85115761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.084000	0.71335	2.829000	0.97493	0.650000	0.86243	TCT		0.378	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4		NM_020122		16	24	0	0	0	0.00499	0	16	24		
VAMP5	10791	broad.mit.edu	37	2	85820206	85820206	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:85820206C>T	ENST00000306384.4	+	3	360	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	RNF181_ENST00000441634.1_5'Flank|RNF181_ENST00000306368.4_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	93					cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						GGTCGTCTTTCTCCCTCAGAG	0.592																																						uc002spu.1		NaN																	0					0						c.(277-279)CTC>TTC		vesicle-associated membrane protein 5							288.0	226.0	247.0					2																	85820206		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85820206C>T	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.277C>T	2.37:g.85820206C>T	ENSP00000305647:p.Leu93Phe					RNF181_uc002spv.1_5'Flank	p.L93F	NM_006634	NP_006625	O95183	VAMP5_HUMAN			3	360	+			93			Helical; Anchor for type IV membrane protein; (Potential).		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.277C>T	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749152	0.49257	.	.	ENSG00000168899	ENST00000306384	.	.	.	5.01	2.05	0.26809	.	0.725846	0.11884	N	0.520216	T	0.35451	0.0932	M	0.69823	2.125	0.09310	N	1	P	0.36616	0.561	B	0.34242	0.178	T	0.19712	-1.0297	9	0.26408	T	0.33	.	4.2304	0.10601	0.1577:0.5931:0.1542:0.095	.	93	O95183	VAMP5_HUMAN	F	93	.	ENSP00000305647:L93F	L	+	1	0	VAMP5	85673717	0.095000	0.21747	0.705000	0.30386	0.889000	0.51656	0.678000	0.25277	1.111000	0.41721	0.655000	0.94253	CTC		0.592	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2		NM_006634		15	65	0	0	0	0.003163	0	15	65		
SEMA4C	54910	broad.mit.edu	37	2	97529515	97529515	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:97529515G>C	ENST00000305476.5	-	12	1479	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	449	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCACAGCCTTGAGCAGCCAGC	0.617																																						uc002sxh.3		NaN																	0				skin(2)	2						c.(1345-1347)CTC>CTG		semaphorin 4C precursor							45.0	49.0	47.0					2																	97529515		2203	4300	6503	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97529515G>C	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1347C>G	2.37:g.97529515G>C						SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Silent_p.L502L	p.L449L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			12	1507	-			449			Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.1347C>G	CCDS2029.1																																																																																				0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1		NM_017789		4	49	0	0	0	0.000602	0	4	49		
TMEM131	23505	broad.mit.edu	37	2	98377308	98377308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:98377308C>G	ENST00000186436.5	-	37	5187	c.4959G>C	c.(4957-4959)aaG>aaC	p.K1653N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1653						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTTGCCGTTCTTGCCCGGGA	0.537																																						uc002syh.3		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(4957-4959)AAG>AAC		RW1 protein							103.0	108.0	106.0					2																	98377308		2009	4174	6183	SO:0001583	missense	23505					integral to membrane		g.chr2:98377308C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4959G>C	2.37:g.98377308C>G	ENSP00000186436:p.Lys1653Asn					TMEM131_uc002syg.2_Missense_Mutation_p.K33N	p.K1653N	NM_015348	NP_056163	Q92545	TM131_HUMAN			37	5188	-			1653						Missense_Mutation	SNP	ENST00000186436.5	37	c.4959G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752380	0.49362	.	.	ENSG00000075568	ENST00000186436	T	0.38722	1.12	5.45	3.63	0.41609	.	0.196123	0.53938	D	0.000049	T	0.25680	0.0625	N	0.19112	0.55	0.80722	D	1	B;P	0.39480	0.181;0.675	B;B	0.39258	0.046;0.295	T	0.03095	-1.1073	10	0.22706	T	0.39	-7.9685	8.9799	0.35959	0.0:0.7773:0.0:0.2227	.	1653;33	Q92545;Q0P631	TM131_HUMAN;.	N	1653	ENSP00000186436:K1653N	ENSP00000186436:K1653N	K	-	3	2	TMEM131	97743740	0.999000	0.42202	0.920000	0.36463	0.947000	0.59692	0.651000	0.24873	1.418000	0.47098	0.643000	0.83706	AAG		0.537	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542		15	69	0	0	0	0.003163	0	15	69		
GPR45	11250	broad.mit.edu	37	2	105859262	105859262	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:105859262A>C	ENST00000258456.1	+	1	1063	c.947A>C	c.(946-948)aAg>aCg	p.K316T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTTACCTCAAGTCCGTCTTC	0.547																																						uc002tco.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(946-948)AAG>ACG		G protein-coupled receptor 45							124.0	123.0	123.0					2																	105859262		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859262A>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.947A>C	2.37:g.105859262A>C	ENSP00000258456:p.Lys316Thr						p.K316T	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	1063	+			316			Helical; Name=7; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.947A>C	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072910	0.76415	.	.	ENSG00000135973	ENST00000258456	T	0.35421	1.31	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.72479	2.2	0.58432	D	0.999997	D	0.64830	0.994	D	0.65573	0.936	T	0.57476	-0.7805	10	0.62326	D	0.03	-26.0986	10.1598	0.42844	0.919:0.0:0.081:0.0	.	316	Q9Y5Y3	GPR45_HUMAN	T	316	ENSP00000258456:K316T	ENSP00000258456:K316T	K	+	2	0	GPR45	105225694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.034000	0.70933	2.176000	0.68965	0.374000	0.22700	AAG		0.547	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1		NM_007227		19	127	0	0	0	0.007413	0	19	127		
CBWD2	150472	broad.mit.edu	37	2	114220043	114220043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:114220043G>A	ENST00000259199.4	+	8	812	c.634G>A	c.(634-636)Gat>Aat	p.D212N	CBWD2_ENST00000416503.2_Missense_Mutation_p.D212N|CBWD2_ENST00000433343.2_Missense_Mutation_p.D176N	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	212							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						TCCAGAAGAAGATGTAAAGAA	0.323																																						uc002tju.2		NaN																	0					0						c.(634-636)GAT>AAT		COBW domain-containing protein 2							114.0	131.0	125.0					2																	114220043		1357	2294	3651	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114220043G>A	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.634G>A	2.37:g.114220043G>A	ENSP00000259199:p.Asp212Asn					CBWD2_uc010yxw.1_Missense_Mutation_p.D176N|CBWD2_uc002tjv.2_Missense_Mutation_p.D176N|CBWD2_uc010fkv.2_RNA	p.D212N	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN			8	812	+			212					Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.634G>A	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.105113	0.37145	.	.	ENSG00000136682	ENST00000259199;ENST00000416503;ENST00000433343	T;T;T	0.46063	0.88;0.88;0.88	2.85	2.85	0.33270	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.152033	0.56097	D	0.000022	T	0.38108	0.1028	L	0.45470	1.425	0.30126	N	0.805222	B;B;B	0.31256	0.068;0.039;0.316	B;B;B	0.35655	0.063;0.098;0.207	T	0.50101	-0.8867	10	0.72032	D	0.01	-30.3767	11.5306	0.50607	0.0:0.0:1.0:0.0	.	176;176;212	B7Z8M0;F8WEG4;Q8IUF1	.;.;CBWD2_HUMAN	N	212;212;176	ENSP00000259199:D212N;ENSP00000411906:D212N;ENSP00000401945:D176N	ENSP00000259199:D212N	D	+	1	0	CBWD2	113936513	1.000000	0.71417	0.991000	0.47740	0.452000	0.32318	6.890000	0.75633	1.617000	0.50277	0.398000	0.26397	GAT		0.323	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3		NM_172003		40	95	0	0	0	0.002852	0	40	95		
STEAP3	55240	broad.mit.edu	37	2	120003084	120003084	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:120003084G>C	ENST00000354888.5	+	3	516	c.12G>C	c.(10-12)gaG>gaC	p.E4D	STEAP3_ENST00000393110.2_Missense_Mutation_p.E14D|STEAP3_ENST00000393108.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393106.2_Missense_Mutation_p.E4D|STEAP3_ENST00000450943.2_Missense_Mutation_p.E4D|STEAP3_ENST00000393107.2_Missense_Mutation_p.E4D|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.E4D|STEAP3_ENST00000409811.1_Missense_Mutation_p.E4D	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	4					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGCCAGAAGAGATGGACAAGC	0.587																																						uc002tlp.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(10-12)GAG>GAC		dudulin 2 isoform b							36.0	40.0	39.0					2																	120003084		2202	4300	6502	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003084G>C	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.12G>C	2.37:g.120003084G>C	ENSP00000346961:p.Glu4Asp					STEAP3_uc002tlq.2_Missense_Mutation_p.E14D|STEAP3_uc002tlr.2_Missense_Mutation_p.E4D|STEAP3_uc010fle.2_Missense_Mutation_p.E4D	p.E4D	NM_018234	NP_060704	Q658P3	STEA3_HUMAN			3	169	+			4			Cytoplasmic (Potential).		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.12G>C	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082196	0.20309	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.08634	3.31;3.31;3.07;3.3;3.31;3.07;3.31;3.31	4.69	-1.2	0.09554	.	0.522679	0.20539	N	0.090352	T	0.02767	0.0083	N	0.04880	-0.145	0.30065	N	0.810593	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.06405	0.002;0.002;0.001	T	0.40403	-0.9565	9	.	.	.	-9.3695	4.0277	0.09695	0.1592:0.3758:0.3619:0.1031	.	4;14;4	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	D	4;4;4;14;4;4;4;4	ENSP00000376820:E4D;ENSP00000346961:E4D;ENSP00000396873:E4D;ENSP00000376822:E14D;ENSP00000376818:E4D;ENSP00000386510:E4D;ENSP00000376819:E4D;ENSP00000396214:E4D	.	E	+	3	2	STEAP3	119719554	0.713000	0.27926	0.946000	0.38457	0.553000	0.35397	-0.002000	0.12924	-0.046000	0.13446	0.655000	0.94253	GAG		0.587	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1		NM_018234		5	55	0	0	0	0.001168	0	5	55		
MYO7B	4648	broad.mit.edu	37	2	128388376	128388376	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:128388376G>C	ENST00000409816.2	+	34	4784	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	MYO7B_ENST00000428314.1_Missense_Mutation_p.E1584D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E437D|MYO7B_ENST00000389524.4_Missense_Mutation_p.E1584D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1584						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCACCAGAGAAGAGGAAGC	0.637																																						uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(4750-4752)GAG>GAC		myosin VIIB							38.0	44.0	42.0					2																	128388376		1967	4149	6116	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128388376G>C		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4752G>C	2.37:g.128388376G>C	ENSP00000386461:p.Glu1584Asp					MYO7B_uc002tor.1_Missense_Mutation_p.E437D	p.E1584D	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	35	4805	+	Colorectal(110;0.1)		1584					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4752G>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	5.860	0.342944	0.11069	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.6	4.73	0.59995	.	0.123452	0.56097	D	0.000032	T	0.48390	0.1497	L	0.28344	0.845	0.34826	D	0.739167	B	0.14012	0.009	B	0.08055	0.003	T	0.51888	-0.8648	10	0.19590	T	0.45	.	7.8747	0.29586	0.1498:0.1448:0.7054:0.0	.	1584	Q6PIF6	MYO7B_HUMAN	D	1584;1584;679;1584;437	ENSP00000374175:E1584D;ENSP00000415090:E1584D;ENSP00000386461:E1584D;ENSP00000386850:E437D	ENSP00000272666:E679D	E	+	3	2	MYO7B	128104846	0.963000	0.33076	1.000000	0.80357	0.791000	0.44710	0.096000	0.15147	1.378000	0.46305	0.542000	0.68232	GAG		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		5	45	0	0	0	0.000602	0	5	45		
MCM6	4175	broad.mit.edu	37	2	136626327	136626327	+	Silent	SNP	G	G	A	rs34276971		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136626327G>A	ENST00000264156.2	-	4	529	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	157					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCCAAGCACAGAAAAGTTCCG	0.517																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NaN																	0					0						c.(469-471)CTG>TTG		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						145.0	135.0	138.0					2																	136626327		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626327G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.469C>T	2.37:g.136626327G>A							p.L157L	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	545	-			157					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.469C>T	CCDS2179.1																																																																																				0.517	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1		NM_005915		41	99	0	0	0	0.00623	0	41	99		
CXCR4	7852	broad.mit.edu	37	2	136872950	136872950	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:136872950C>T	ENST00000241393.3	-	2	652	c.548G>A	c.(547-549)aGa>aAa	p.R183K	CXCR4_ENST00000409817.1_Missense_Mutation_p.R187K|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	183					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	ACAGATATATCTGTCATCTGC	0.507																																						uc002tuz.2		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(547-549)AGA>AAA		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						134.0	118.0	124.0					2																	136872950		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872950C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.548G>A	2.37:g.136872950C>T	ENSP00000241393:p.Arg183Lys					CXCR4_uc002tuy.2_Missense_Mutation_p.R187K|CXCR4_uc010fnk.2_Missense_Mutation_p.R168K	p.R183K	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	643	-			183	R->A: Reduced coreceptor activity for several HIV-1 isolates.		Extracellular.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.548G>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.213971	0.09810	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.37411	1.2;1.2	6.17	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	1.716140	0.02798	N	0.122912	T	0.25457	0.0619	N	0.20483	0.58	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.003	T	0.22521	-1.0214	10	0.07990	T	0.79	.	9.9799	0.41806	0.0:0.4994:0.0:0.5006	.	183;187	P61073;P61073-2	CXCR4_HUMAN;.	K	187;183;53	ENSP00000386884:R187K;ENSP00000241393:R183K	ENSP00000241393:R183K	R	-	2	0	CXCR4	136589420	0.033000	0.19621	0.001000	0.08648	0.299000	0.27559	0.676000	0.25247	0.140000	0.18849	0.655000	0.94253	AGA		0.507	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1				13	84	0	0	0	0.001368	0	13	84		
THSD7B	80731	broad.mit.edu	37	2	137852590	137852590	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:137852590G>A	ENST00000409968.1	+	4	1276	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R	THSD7B_ENST00000543459.1_Silent_p.R225R|THSD7B_ENST00000413152.2_Silent_p.R335R|THSD7B_ENST00000272643.3_Silent_p.R366R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	366	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGGAGCCGGAACGTGAAGC	0.537																																						uc002tva.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1003-1005)CGG>CGA		thrombospondin, type I, domain containing 7B							92.0	98.0	96.0					2																	137852590		1925	4146	6071	SO:0001819	synonymous_variant	80731							g.chr2:137852590G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1098G>A	2.37:g.137852590G>A						THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.R225R	p.R335R	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	1005	+									Silent	SNP	ENST00000409968.1	37	c.1005G>A																																																																																					0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		7	47	0	0	0	0.00308	0	7	47		
LRP1B	53353	broad.mit.edu	37	2	141762977	141762977	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:141762977C>G	ENST00000389484.3	-	15	3401	c.2430G>C	c.(2428-2430)ttG>ttC	p.L810F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	810	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L810F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGGATAGCCAAGCAAAGTG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2428-2430)TTG>TTC		low density lipoprotein-related protein 1B							92.0	88.0	89.0					2																	141762977		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141762977C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2430G>C	2.37:g.141762977C>G	ENSP00000374135:p.Leu810Phe	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.L810F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	15	3402	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	810			Extracellular (Potential).|EGF-like 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2430G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603629	0.46423	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97138	-4.26	5.99	0.275	0.15659	.	0.000000	0.56097	U	0.000034	D	0.93973	0.8070	M	0.68593	2.085	0.43852	D	0.996448	B	0.25390	0.125	B	0.22753	0.041	D	0.86563	0.1842	10	0.20519	T	0.43	.	7.8967	0.29710	0.107:0.5287:0.0:0.3643	.	810	Q9NZR2	LRP1B_HUMAN	F	810;748	ENSP00000374135:L810F	ENSP00000374135:L810F	L	-	3	2	LRP1B	141479447	0.920000	0.31207	0.998000	0.56505	0.884000	0.51177	0.001000	0.13038	0.091000	0.17302	-0.169000	0.13324	TTG		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		9	72	0	0	0	0.006214	0	9	72		
ARHGAP15	55843	broad.mit.edu	37	2	144194515	144194515	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194515G>C	ENST00000295095.6	+	8	774	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	203					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAGAAACCTGGAATTATTCAA	0.338																																						uc002tvm.3		NaN																	0				ovary(1)|skin(1)	2						c.(607-609)GAA>CAA		ARHGAP15							69.0	70.0	70.0					2																	144194515		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144194515G>C	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.607G>C	2.37:g.144194515G>C	ENSP00000295095:p.Glu203Gln					ARHGAP15_uc010zbl.1_Missense_Mutation_p.E203Q|ARHGAP15_uc002tvn.2_5'UTR	p.E203Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	8	758	+			203					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.607G>C	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307481	0.40795	.	.	ENSG00000075884	ENST00000295095	T	0.08193	3.12	5.55	4.67	0.58626	.	0.276990	0.41001	D	0.000966	T	0.07638	0.0192	L	0.59436	1.845	0.34440	D	0.699546	B;P	0.45531	0.079;0.86	B;B	0.32677	0.051;0.15	T	0.35968	-0.9767	10	0.19147	T	0.46	.	11.5491	0.50711	0.0823:0.0:0.9177:0.0	.	203;203	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Q	203	ENSP00000295095:E203Q	ENSP00000295095:E203Q	E	+	1	0	ARHGAP15	143910985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.029000	0.57253	1.329000	0.45376	0.650000	0.86243	GAA		0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2		NM_018460		11	38	0	0	0	0.001368	0	11	38		
ARHGAP15	55843	broad.mit.edu	37	2	144194548	144194548	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:144194548G>A	ENST00000295095.6	+	8	807	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	214					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCTAGCACTGAATTGCTAAG	0.333																																						uc002tvm.3		NaN																	0				ovary(1)|skin(1)	2						c.(640-642)GAA>AAA		ARHGAP15							75.0	74.0	75.0					2																	144194548		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144194548G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.640G>A	2.37:g.144194548G>A	ENSP00000295095:p.Glu214Lys					ARHGAP15_uc010zbl.1_Missense_Mutation_p.E214K|ARHGAP15_uc002tvn.2_5'UTR	p.E214K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	8	791	+			214					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.640G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675432	0.88445	.	.	ENSG00000075884	ENST00000295095	T	0.08546	3.08	5.55	5.55	0.83447	.	0.177271	0.50627	D	0.000112	T	0.29556	0.0737	M	0.68593	2.085	0.52501	D	0.999959	D;P	0.63880	0.993;0.63	D;P	0.72625	0.978;0.54	T	0.00345	-1.1801	10	0.54805	T	0.06	.	19.5081	0.95127	0.0:0.0:1.0:0.0	.	214;214	B4E0R3;Q53QZ3	.;RHG15_HUMAN	K	214	ENSP00000295095:E214K	ENSP00000295095:E214K	E	+	1	0	ARHGAP15	143911018	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.739000	0.74827	2.601000	0.87937	0.650000	0.86243	GAA		0.333	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2		NM_018460		6	39	0	0	0	0.001984	0	6	39		
STAM2	10254	broad.mit.edu	37	2	153006744	153006744	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:153006744C>T	ENST00000263904.4	-	2	390		c.e2-1		STAM2_ENST00000465460.1_5'Flank	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTGGCTTTTTCTATAAAATAT	0.353																																						uc002tyc.3		NaN																	0				ovary(1)	1						c.e2-1		signal transducing adaptor molecule 2							104.0	88.0	94.0					2																	153006744		2202	4299	6501	SO:0001630	splice_region_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153006744C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.41-1G>A	2.37:g.153006744C>T						STAM2_uc010foa.1_Splice_Site_p.E14_splice|STAM2_uc002tyd.2_Splice_Site_p.E14_splice	p.E14_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	2	391	-								A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Splice_Site	SNP	ENST00000263904.4	37	c.41_splice	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730171	0.69074	.	.	ENSG00000115145	ENST00000263904	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAM2	152714990	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.796000	0.85898	2.764000	0.94973	0.650000	0.86243	.		0.353	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2		NM_005843	Intron	4	29	0	0	0	0.000602	0	4	29		
BAZ2B	29994	broad.mit.edu	37	2	160182266	160182266	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:160182266C>A	ENST00000392783.2	-	35	6602	c.6107G>T	c.(6106-6108)aGa>aTa	p.R2036I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1936I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R2000I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R2002I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTCCATTTTTCTTTTCTTGAG	0.353																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(6106-6108)AGA>ATA		bromodomain adjacent to zinc finger domain, 2B							161.0	148.0	152.0					2																	160182266		1812	4069	5881	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160182266C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6107G>T	2.37:g.160182266C>A	ENSP00000376534:p.Arg2036Ile					BAZ2B_uc002uap.2_Missense_Mutation_p.R2000I	p.R2036I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			35	6459	-			2036					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.6107G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802413	0.50315	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.98	5.1	0.69264	.	0.000000	0.40469	U	0.001090	T	0.58892	0.2154	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.64237	0.885;0.923	T	0.63928	-0.6526	10	0.72032	D	0.01	-8.0592	15.1375	0.72579	0.0:0.9326:0.0:0.0674	.	2000;2036	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	2000;2036;2002;1936	ENSP00000376533:R2000I;ENSP00000376534:R2036I;ENSP00000348087:R2002I;ENSP00000339670:R1936I	ENSP00000339670:R1936I	R	-	2	0	BAZ2B	159890512	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.193000	0.77780	1.530000	0.49136	0.650000	0.86243	AGA		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				39	84	1	0	2.40579e-17	0.00623	3.03889e-17	39	84		
GRB14	2888	broad.mit.edu	37	2	165349549	165349549	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:165349549G>C	ENST00000263915.3	-	14	2158	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.L453L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	540					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCTTGTCTAGAGAGCAATCC	0.353																																						uc002ucl.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1618-1620)CTC>CTG		growth factor receptor-bound protein 14							97.0	104.0	102.0					2																	165349549		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165349549G>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1620C>G	2.37:g.165349549G>C						GRB14_uc010zcv.1_Silent_p.L453L|GRB14_uc002ucm.2_RNA	p.L540L	NM_004490	NP_004481	Q14449	GRB14_HUMAN			14	2161	-			540					B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1620C>G	CCDS2222.1																																																																																				0.353	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2				18	47	0	0	0	0.006122	0	18	47		
SCN2A	6326	broad.mit.edu	37	2	166198839	166198839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166198839C>T	ENST00000375437.2	+	15	2712	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F	SCN2A_ENST00000357398.3_Missense_Mutation_p.L808F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L808F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L808F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	808					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAATGTTTCTCAAGATAAT	0.343																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(2422-2424)CTC>TTC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						127.0	130.0	129.0					2																	166198839		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166198839C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2422C>T	2.37:g.166198839C>T	ENSP00000364586:p.Leu808Phe					SCN2A_uc002udd.2_Missense_Mutation_p.L808F|SCN2A_uc002ude.2_Missense_Mutation_p.L808F	p.L808F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			15	2712	+			808			II.|Helical; Name=S2 of repeat II; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2422C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370144	0.42003	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99042	-5.36;-5.36;-5.36;-5.36	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.56097	D	0.000024	D	0.96898	0.8987	L	0.39147	1.195	0.58432	D	0.999998	B;B	0.23490	0.086;0.011	B;B	0.23716	0.048;0.042	D	0.95106	0.8234	10	0.21540	T	0.41	.	12.8817	0.58020	0.0:0.9255:0.0:0.0745	.	808;808	Q99250-2;Q99250	.;SCN2A_HUMAN	F	808	ENSP00000364586:L808F;ENSP00000349973:L808F;ENSP00000283256:L808F;ENSP00000364576:L808F	ENSP00000283256:L808F	L	+	1	0	SCN2A	165907085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.156000	0.42310	2.632000	0.89209	0.643000	0.83706	CTC		0.343	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		24	51	0	0	0	0.004656	0	24	51		
SCN2A	6326	broad.mit.edu	37	2	166231393	166231393	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166231393G>C	ENST00000375437.2	+	22	4461	c.4171G>C	c.(4171-4173)Gag>Cag	p.E1391Q	SCN2A_ENST00000357398.3_Missense_Mutation_p.E1391Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.E1391Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1391Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1391					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTCTCATTGAGAGCAATCA	0.378																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4171-4173)GAG>CAG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						85.0	82.0	83.0					2																	166231393		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231393G>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4171G>C	2.37:g.166231393G>C	ENSP00000364586:p.Glu1391Gln					SCN2A_uc002udd.2_Missense_Mutation_p.E1391Q|SCN2A_uc002ude.2_Missense_Mutation_p.E1391Q	p.E1391Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			22	4461	+			1391			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4171G>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	5.920	0.353839	0.11182	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	4.58	4.58	0.56647	Ion transport (1);	0.476335	0.17418	N	0.174950	D	0.91882	0.7430	L	0.35644	1.08	0.28083	N	0.932095	B;B	0.06786	0.001;0.0	B;B	0.12837	0.005;0.008	T	0.83237	-0.0060	10	0.31617	T	0.26	.	6.4646	0.21975	0.1603:0.1565:0.6832:0.0	.	1391;1391	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1391	ENSP00000364586:E1391Q;ENSP00000349973:E1391Q;ENSP00000283256:E1391Q;ENSP00000364576:E1391Q	ENSP00000283256:E1391Q	E	+	1	0	SCN2A	165939639	0.980000	0.34600	0.978000	0.43139	0.366000	0.29705	1.017000	0.29989	2.243000	0.73865	0.591000	0.81541	GAG		0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		22	35	0	0	0	0.002299	0	22	35		
SCN1A	6323	broad.mit.edu	37	2	166898905	166898905	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:166898905C>G	ENST00000303395.4	-	12	2072	c.2073G>C	c.(2071-2073)aaG>aaC	p.K691N	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.K691N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K680N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K663N|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	691					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGACCTTCTCTTTCTCATTT	0.368																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2038-2040)AAG>AAC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						133.0	129.0	130.0					2																	166898905		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166898905C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2073G>C	2.37:g.166898905C>G	ENSP00000303540:p.Lys691Asn					SCN1A_uc002udo.3_Missense_Mutation_p.K560N|SCN1A_uc010fpk.2_Missense_Mutation_p.K532N	p.K680N	NM_006920	NP_008851	P35498	SCN1A_HUMAN			12	2058	-			691					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2040G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028118	0.54790	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.82	4.03	0.46877	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.93307	0.7867	M	0.88031	2.925	0.44995	D	0.99801	P;P;P	0.52316	0.557;0.611;0.952	B;B;P	0.52710	0.295;0.419;0.707	D	0.91888	0.5521	10	0.48119	T	0.1	.	8.6186	0.33847	0.0:0.7142:0.0:0.2858	.	680;663;691	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	691;691;680;663	ENSP00000407030:K691N;ENSP00000303540:K691N;ENSP00000364554:K680N;ENSP00000386312:K663N	ENSP00000303540:K691N	K	-	3	2	SCN1A	166607151	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.597000	0.24059	0.802000	0.34089	0.655000	0.94253	AAG		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		29	45	0	0	0	0.00632	0	29	45		
ITGA6	3655	broad.mit.edu	37	2	173355768	173355768	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:173355768G>A	ENST00000264106.6	+	22	3016	c.2813G>A	c.(2812-2814)aGa>aAa	p.R938K	ITGA6_ENST00000264107.7_Missense_Mutation_p.R899K|ITGA6_ENST00000409080.1_Missense_Mutation_p.R899K|ITGA6_ENST00000409532.1_Missense_Mutation_p.R780K|ITGA6_ENST00000375221.2_Missense_Mutation_p.R938K|ITGA6_ENST00000343713.4_Missense_Mutation_p.R894K|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	938					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CACAACTCAAGAAAGAAACGG	0.308																																						uc002uhp.1		NaN																	0				ovary(1)|lung(1)	2						c.(2695-2697)AGA>AAA		integrin alpha chain, alpha 6 isoform a							87.0	108.0	101.0					2																	173355768		2199	4299	6498	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173355768G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2813G>A	2.37:g.173355768G>A	ENSP00000264106:p.Arg938Lys					ITGA6_uc010zdy.1_Missense_Mutation_p.R780K|ITGA6_uc002uho.1_Missense_Mutation_p.R899K|ITGA6_uc010fqm.1_Missense_Mutation_p.R530K	p.R899K	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		21	2899	+			938			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2696G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274062	0.80580	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.89095	3.005	0.80722	D	1	D;P;P;D	0.89917	0.999;0.485;0.938;1.0	D;B;D;D	0.91635	0.95;0.395;0.91;0.999	T	0.78685	-0.2108	10	0.62326	D	0.03	.	16.3226	0.82956	0.0:0.0:1.0:0.0	.	894;923;899;899	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	K	780;899;938;938;894;899;938;894;66	ENSP00000386614:R780K;ENSP00000264107:R899K;ENSP00000264106:R938K;ENSP00000364369:R938K;ENSP00000341078:R894K;ENSP00000386896:R899K;ENSP00000406694:R938K;ENSP00000394169:R894K;ENSP00000388435:R66K	ENSP00000264106:R938K	R	+	2	0	ITGA6	173064014	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.934000	0.63491	2.534000	0.85438	0.460000	0.39030	AGA		0.308	ITGA6-201	KNOWN	basic	protein_coding	protein_coding					35	191	0	0	0	0.003755	0	35	191		
CIR1	9541	broad.mit.edu	37	2	175213338	175213338	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175213338C>T	ENST00000342016.3	-	10	1332	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	414	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTGCTTTGCTCTTCACCAGGA	0.507																																						uc002uim.2		NaN																	0				large_intestine(1)	1						c.(1240-1242)GAG>AAG		CBF1 interacting corepressor							209.0	201.0	203.0					2																	175213338		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213338C>T	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1240G>A	2.37:g.175213338C>T	ENSP00000339723:p.Glu414Lys					CIR1_uc002uin.2_Missense_Mutation_p.E288K|CIR1_uc002uio.2_Missense_Mutation_p.E241K|CIR1_uc002uip.2_Missense_Mutation_p.E303K	p.E414K	NM_004882	NP_004873	Q86X95	CIR1_HUMAN			10	1333	-			414			Arg/Ser-rich (RS domain).		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.1240G>A	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440581	0.25900	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.03	4.25	0.50352	.	0.420286	0.25984	N	0.027057	T	0.34366	0.0895	L	0.34521	1.04	0.29552	N	0.85126	B;B	0.22541	0.071;0.001	B;B	0.17433	0.018;0.002	T	0.21075	-1.0256	9	0.22109	T	0.4	.	11.0348	0.47793	0.0:0.8552:0.0:0.1448	.	414;414	A0PJI7;Q86X95	.;CIR1_HUMAN	K	414	.	ENSP00000339723:E414K	E	-	1	0	CIR1	174921584	1.000000	0.71417	0.110000	0.21437	0.006000	0.05464	4.433000	0.59929	0.891000	0.36235	0.557000	0.71058	GAG		0.507	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1		NM_004882		43	251	0	0	0	0.007835	0	43	251		
WIPF1	7456	broad.mit.edu	37	2	175436406	175436406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:175436406G>C	ENST00000392547.2	-	5	1226	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Nonsense_Mutation_p.S376*|WIPF1_ENST00000272746.5_Nonsense_Mutation_p.S376*|WIPF1_ENST00000392546.2_Nonsense_Mutation_p.S376*|WIPF1_ENST00000409891.1_Nonsense_Mutation_p.S376*|WIPF1_ENST00000409415.3_Nonsense_Mutation_p.S376*|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000467149.1_5'Flank	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	376	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGTCATACCTGATCGGCCTGG	0.562																																						uc002uiy.2		NaN																	0				ovary(1)|skin(1)	2						c.(1126-1128)TCA>TGA		WAS/WASL interacting protein family, member 1							68.0	74.0	72.0					2																	175436406		2198	4294	6492	SO:0001587	stop_gained	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436406G>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1127C>G	2.37:g.175436406G>C	ENSP00000376330:p.Ser376*					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Nonsense_Mutation_p.S376*|WIPF1_uc010fqt.1_Nonsense_Mutation_p.S376*|WIPF1_uc002ujc.1_Nonsense_Mutation_p.S376*|WIPF1_uc002uiz.2_Nonsense_Mutation_p.S376*|WIPF1_uc002ujb.1_Nonsense_Mutation_p.S376*|WIPF1_uc010zep.1_Nonsense_Mutation_p.S376*	p.S376*	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	1459	-			376			XRSGPXPPXP motif 2.|Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Nonsense_Mutation	SNP	ENST00000392547.2	37	c.1127C>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909658	0.72983	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	.	.	.	4.85	4.85	0.62838	.	0.322330	0.30329	N	0.009873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.5567	0.87892	0.0:0.0:1.0:0.0	.	.	.	.	X	376;232;376;376;376;376;376	.	ENSP00000272746:S376X	S	-	2	0	WIPF1	175144652	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	6.183000	0.72002	2.241000	0.73720	0.536000	0.68110	TCA		0.562	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1		NM_003387		22	135	0	0	0	0.003954	0	22	135		
TTC30B	150737	broad.mit.edu	37	2	178417039	178417039	+	Missense_Mutation	SNP	C	C	G	rs200660145		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:178417039C>G	ENST00000408939.3	-	1	703	c.453G>C	c.(451-453)gaG>gaC	p.E151D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	151					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CGGTCTCATTCTCGCCCCCAC	0.582																																						uc002uln.2		NaN																	0					0						c.(451-453)GAG>GAC		tetratricopeptide repeat domain 30B							200.0	220.0	213.0					2																	178417039		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417039C>G	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.453G>C	2.37:g.178417039C>G	ENSP00000386181:p.Glu151Asp					TTC30B_uc010zfc.1_5'UTR	p.E151D	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	486	-			151					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.453G>C	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.275914	0.01410	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78595	-1.19	4.51	1.63	0.23807	.	0.531830	0.19321	N	0.117139	T	0.52661	0.1748	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33879	-0.9851	10	0.17832	T	0.49	.	7.5593	0.27843	0.0:0.4463:0.4146:0.1391	.	151	Q8N4P2	TT30B_HUMAN	D	104;151	ENSP00000386181:E151D	ENSP00000386181:E151D	E	-	3	2	TTC30B	178125285	0.026000	0.19158	0.018000	0.16275	0.051000	0.14879	1.078000	0.30754	0.590000	0.29694	-0.176000	0.13171	GAG		0.582	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2		NM_152517		51	327	0	0	0	0.00361	0	51	327		
TTN	7273	broad.mit.edu	37	2	179455083	179455083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179455083C>T	ENST00000591111.1	-	254	56670	c.56446G>A	c.(56446-56448)Gag>Aag	p.E18816K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11392K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11517K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20457K|TTN_ENST00000342992.6_Missense_Mutation_p.E17889K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11584K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18816	Fibronectin type-III 36. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGGCTCACCCTCTCCT	0.408																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(53665-53667)GAG>AAG		titin isoform N2-A							167.0	152.0	157.0					2																	179455083		1944	4138	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455083C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56446G>A	2.37:g.179455083C>T	ENSP00000465570:p.Glu18816Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11584K|TTN_uc010zfi.1_Missense_Mutation_p.E11517K|TTN_uc010zfj.1_Missense_Mutation_p.E11392K	p.E17889K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53889	-			18816					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.53665G>A		.	.	.	.	.	.	.	.	.	.	C	15.06	2.721634	0.48728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.11	6.11	0.99139	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58821	0.2149	L	0.45744	1.44	0.80722	D	1	D;D;D;D	0.53151	0.958;0.958;0.958;0.958	P;P;P;P	0.48488	0.579;0.579;0.579;0.579	T	0.60146	-0.7320	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11392;11517;11584;18816	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17889;11392;11584;11517;11390	ENSP00000343764:E17889K;ENSP00000434586:E11392K;ENSP00000340554:E11584K;ENSP00000352154:E11517K	ENSP00000340554:E11584K	E	-	1	0	TTN	179163329	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	GAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		14	103	0	0	0	0.001855	0	14	103		
TTN	7273	broad.mit.edu	37	2	179611886	179611886	+	Intron	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:179611886G>C	ENST00000591111.1	-	46	10585				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L5081V|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTCTCTAGAGTCTCTCCT	0.552																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15241-15243)CTA>GTA		titin isoform novex-3							64.0	72.0	69.0					2																	179611886		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611886G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5238C>G	2.37:g.179611886G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L5081V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15465	-			1188					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15241C>G		.	.	.	.	.	.	.	.	.	.	G	12.12	1.843617	0.32606	.	.	ENSG00000155657	ENST00000360870	T	0.59083	0.29	6.06	2.18	0.27775	.	.	.	.	.	T	0.37320	0.0999	L	0.36672	1.1	0.09310	N	0.999999	P	0.37207	0.587	B	0.34180	0.177	T	0.12837	-1.0532	9	0.16896	T	0.51	.	2.2503	0.04042	0.1703:0.1594:0.5229:0.1474	.	5081	Q8WZ42-6	.	V	5081	ENSP00000354117:L5081V	ENSP00000354117:L5081V	L	-	1	2	TTN	179320131	0.024000	0.19004	0.307000	0.25127	0.978000	0.69477	0.289000	0.18957	0.905000	0.36596	-0.137000	0.14449	CTA		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		30	69	0	0	0	0.008361	0	30	69		
DNAH7	56171	broad.mit.edu	37	2	196718190	196718190	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:196718190C>T	ENST00000312428.6	-	46	8758	c.8658G>A	c.(8656-8658)gaG>gaA	p.E2886E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2886					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGAGTTTTCTCACCTCCAA	0.463																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(8656-8658)GAG>GAA		dynein, axonemal, heavy chain 7							102.0	99.0	100.0					2																	196718190		1965	4152	6117	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196718190C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8658G>A	2.37:g.196718190C>T							p.E2886E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			46	8759	-			2886					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.8658G>A	CCDS42794.1																																																																																				0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		9	54	0	0	0	0.004482	0	9	54		
STK17B	9262	broad.mit.edu	37	2	197010766	197010766	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:197010766C>T	ENST00000263955.4	-	4	635	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	STK17B_ENST00000409228.1_Missense_Mutation_p.E117K	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTGAAAATTTCTCCACCTGCA	0.313																																						uc002utk.2		NaN																	0				lung(2)	2						c.(349-351)GAA>AAA		serine/threonine kinase 17B							53.0	51.0	52.0					2																	197010766		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197010766C>T	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.349G>A	2.37:g.197010766C>T	ENSP00000263955:p.Glu117Lys					STK17B_uc010fsh.2_Missense_Mutation_p.E117K	p.E117K	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		4	673	-			117			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.349G>A	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162647	0.94727	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.52057	0.68;0.68	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000089	T	0.72045	0.3412	M	0.82193	2.58	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.76913	-0.2783	10	0.87932	D	0	.	18.3895	0.90477	0.0:1.0:0.0:0.0	.	117	O94768	ST17B_HUMAN	K	117	ENSP00000263955:E117K;ENSP00000386853:E117K	ENSP00000263955:E117K	E	-	1	0	STK17B	196719011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.179000	0.77665	2.661000	0.90470	0.655000	0.94253	GAA		0.313	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2				6	9	0	0	0	0.001168	0	6	9		
SATB2	23314	broad.mit.edu	37	2	200213701	200213701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200213701G>C	ENST00000417098.1	-	7	1712	c.896C>G	c.(895-897)tCt>tGt	p.S299C	SATB2_ENST00000428695.1_Missense_Mutation_p.S181C|SATB2_ENST00000443023.1_Missense_Mutation_p.S240C|SATB2_ENST00000457245.1_Missense_Mutation_p.S299C|SATB2_ENST00000260926.5_Missense_Mutation_p.S299C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	299					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTGGGGAGAAAGAAGACC	0.507																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NaN																	0				ovary(1)	1						c.(895-897)TCT>TGT		SATB homeobox 2							177.0	178.0	178.0					2																	200213701		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213701G>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.896C>G	2.37:g.200213701G>C	ENSP00000401112:p.Ser299Cys					SATB2_uc010fsq.1_Missense_Mutation_p.S181C|SATB2_uc002uuz.1_Missense_Mutation_p.S299C|SATB2_uc002uva.1_Missense_Mutation_p.S299C|SATB2_uc002uvb.1_Missense_Mutation_p.S42C	p.S299C	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			7	1713	-			299					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.896C>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180349	0.78677	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.55413	0.66;0.67;0.66;0.52;0.66	5.42	5.42	0.78866	.	0.224825	0.38778	N	0.001568	T	0.64627	0.2615	L	0.43923	1.385	0.46725	D	0.999176	D;D;P	0.71674	0.983;0.998;0.584	P;P;B	0.60173	0.707;0.87;0.376	T	0.66221	-0.5978	10	0.72032	D	0.01	-8.9742	19.5895	0.95503	0.0:0.0:1.0:0.0	.	181;47;299	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	C	299;240;299;181;299	ENSP00000401112:S299C;ENSP00000388764:S240C;ENSP00000260926:S299C;ENSP00000388581:S181C;ENSP00000405420:S299C	ENSP00000260926:S299C	S	-	2	0	SATB2	199921946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.822000	0.86651	2.711000	0.92665	0.655000	0.94253	TCT		0.507	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1		NM_015265		23	124	0	0	0	0.00333	0	23	124		
TYW5	129450	broad.mit.edu	37	2	200803731	200803731	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:200803731G>C	ENST00000354611.4	-	5	676	c.411C>G	c.(409-411)ttC>ttG	p.F137L	C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	137	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						CCTCTTTGAAGAATTCTGGAA	0.308																																						uc002uvi.3		NaN																	0					0						c.(409-411)TTC>TTG		hypothetical protein LOC129450							77.0	75.0	76.0					2																	200803731		1824	4078	5902	SO:0001583	missense	129450				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding	g.chr2:200803731G>C	AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.411C>G	2.37:g.200803731G>C	ENSP00000346627:p.Phe137Leu					C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR	p.F137L	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN			5	677	-			137			JmjC.		B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	c.411C>G	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802699	0.31869	.	.	ENSG00000162971	ENST00000354611	T	0.19105	2.17	4.64	2.7	0.31948	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.202522	0.30584	U	0.009305	T	0.14056	0.0340	L	0.45137	1.4	0.42599	D	0.993279	B	0.30361	0.277	B	0.24155	0.051	T	0.08932	-1.0698	10	0.12766	T	0.61	.	9.0851	0.36577	0.2724:0.0:0.7276:0.0	.	137	A2RUC4	TYW5_HUMAN	L	137	ENSP00000346627:F137L	ENSP00000346627:F137L	F	-	3	2	TYW5	200511976	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.443000	0.44881	0.585000	0.29608	0.585000	0.79938	TTC		0.308	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3		NM_001039693		5	36	0	0	0	0.000602	0	5	36		
CARF	79800	broad.mit.edu	37	2	203839184	203839184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203839184G>A	ENST00000402905.3	+	12	1780	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	CARF_ENST00000438828.2_Missense_Mutation_p.D487N|CARF_ENST00000428585.1_Missense_Mutation_p.D411N|CARF_ENST00000545253.1_Missense_Mutation_p.D399N|CARF_ENST00000545262.1_Missense_Mutation_p.D411N|CARF_ENST00000414439.1_Missense_Mutation_p.D385N|CARF_ENST00000320443.8_Missense_Mutation_p.D487N|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	487					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGAAATGGAGATACGGTATA	0.323																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1459-1461)GAT>AAT		amyotrophic lateral sclerosis 2 (juvenile)							89.0	89.0	89.0					2																	203839184		1827	4071	5898	SO:0001583	missense	79800							g.chr2:203839184G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1459G>A	2.37:g.203839184G>A	ENSP00000384006:p.Asp487Asn					ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zib.1_Missense_Mutation_p.D411N|ALS2CR8_uc010zic.1_Missense_Mutation_p.D399N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.D487N	p.D487N	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			12	1739	+			487					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1459G>A	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560331	0.86335	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	4.82	4.82	0.62117	.	0.334872	0.28921	N	0.013713	T	0.72795	0.3505	L	0.60455	1.87	0.45733	D	0.998639	D;D;D	0.58268	0.982;0.977;0.977	P;P;P	0.58331	0.837;0.787;0.787	T	0.74074	-0.3782	9	0.48119	T	0.1	-11.7707	17.2622	0.87073	0.0:0.0:1.0:0.0	.	399;411;487	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	N	487;385;411;399;411;487;487	.	ENSP00000316224:D487N	D	+	1	0	ALS2CR8	203547429	1.000000	0.71417	0.979000	0.43373	0.908000	0.53690	6.940000	0.75917	2.380000	0.81148	0.557000	0.71058	GAT		0.323	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		15	37	0	0	0	0.004007	0	15	37		
CARF	79800	broad.mit.edu	37	2	203842024	203842024	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:203842024C>G	ENST00000402905.3	+	13	1848	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	CARF_ENST00000438828.2_Silent_p.L509L|CARF_ENST00000428585.1_Silent_p.L433L|CARF_ENST00000545253.1_Silent_p.L421L|CARF_ENST00000545262.1_Silent_p.L433L|CARF_ENST00000414439.1_Silent_p.L407L|CARF_ENST00000320443.8_Silent_p.L509L|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	509					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGAATATTCTCAAAGAGACCA	0.303																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1525-1527)CTC>CTG		amyotrophic lateral sclerosis 2 (juvenile)							111.0	111.0	111.0					2																	203842024		1817	4069	5886	SO:0001819	synonymous_variant	79800							g.chr2:203842024C>G	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1527C>G	2.37:g.203842024C>G						ALS2CR8_uc010zia.1_Silent_p.L433L|ALS2CR8_uc010zib.1_Silent_p.L433L|ALS2CR8_uc010zic.1_Silent_p.L421L|ALS2CR8_uc002uzp.2_Silent_p.L509L	p.L509L	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			13	1807	+			509					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.1527C>G	CCDS42801.1																																																																																				0.303	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		26	118	0	0	0	0.005443	0	26	118		
DYTN	391475	broad.mit.edu	37	2	207530676	207530676	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207530676C>A	ENST00000452335.2	-	10	1174	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	353						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCAAATCGACAAATTCT	0.393																																						uc002vbr.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1057-1059)CGA>CTA		dystrotelin							254.0	230.0	238.0					2																	207530676		1856	4094	5950	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207530676C>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1058G>T	2.37:g.207530676C>A	ENSP00000396593:p.Arg353Leu						p.R353L	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	10	1175	-			353						Missense_Mutation	SNP	ENST00000452335.2	37	c.1058G>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946003	0.34377	.	.	ENSG00000232125	ENST00000452335	T	0.18016	2.24	4.88	3.07	0.35406	.	.	.	.	.	T	0.20170	0.0485	L	0.29908	0.895	0.27184	N	0.960597	D	0.57257	0.979	P	0.55965	0.788	T	0.06534	-1.0821	9	0.49607	T	0.09	-8.0062	6.1503	0.20308	0.1848:0.7203:0.0:0.0948	.	353	A2CJ06	DYTN_HUMAN	L	353	ENSP00000396593:R353L	ENSP00000396593:R353L	R	-	2	0	DYTN	207238921	0.223000	0.23663	0.899000	0.35326	0.126000	0.20510	0.224000	0.17738	0.764000	0.33197	0.555000	0.69702	CGA		0.393	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1				17	80	1	0	3.32936e-07	0.006122	4.03219e-07	17	80		
MDH1B	130752	broad.mit.edu	37	2	207615685	207615685	+	Missense_Mutation	SNP	C	C	T	rs368847776		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:207615685C>T	ENST00000374412.3	-	6	1300	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	MDH1B_ENST00000454776.2_Missense_Mutation_p.R342H|MDH1B_ENST00000449792.1_Missense_Mutation_p.R244H|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	342					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAAAACAGGGCGTGAATAATG	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		15520	0.0		0.0	False		,,,				2504	0.001				Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NaN																	0				ovary(3)|kidney(1)	4						c.(1024-1026)CGC>CAC		malate dehydrogenase 1B, NAD (soluble)		C	HIS/ARG	0,4406		0,0,2203	94.0	95.0	95.0		1025	3.2	0.1	2		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDH1B	NM_001039845.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	342/519	207615685	1,13005	2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615685C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1025G>A	2.37:g.207615685C>T	ENSP00000363533:p.Arg342His					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R342H|MDH1B_uc010fuj.2_Missense_Mutation_p.R244H|MDH1B_uc002vbt.2_Intron	p.R342H	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1080	-			342					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1025G>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378121	0.11466	0.0	1.16E-4	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.67345	-0.26;-0.26;-0.26	5.97	3.2	0.36748	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.313586	0.37136	N	0.002240	T	0.57932	0.2087	L	0.45581	1.43	0.80722	D	1	B;B	0.23377	0.084;0.059	B;B	0.24155	0.023;0.051	T	0.52540	-0.8562	10	0.48119	T	0.1	-8.2429	10.3486	0.43920	0.0:0.7893:0.0:0.2107	.	342;342	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	H	342;244;342	ENSP00000363533:R342H;ENSP00000416577:R244H;ENSP00000389916:R342H	ENSP00000363533:R342H	R	-	2	0	MDH1B	207323930	0.696000	0.27757	0.052000	0.19188	0.039000	0.13416	1.198000	0.32223	0.413000	0.25759	0.655000	0.94253	CGC		0.328	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2		NM_001039845		12	46	0	0	0	0.000978	0	12	46		
KANSL1L	151050	broad.mit.edu	37	2	210993855	210993855	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:210993855C>G	ENST00000281772.9	-	3	1393	c.1130G>C	c.(1129-1131)cGa>cCa	p.R377P	KANSL1L_ENST00000457374.1_Missense_Mutation_p.R377P|KANSL1L_ENST00000418791.1_Missense_Mutation_p.R377P|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R377P	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	377						histone acetyltransferase complex (GO:0000123)											GCTGCCAACTCGTGCTCTGTC	0.433																																						uc002vds.2		NaN																	0				ovary(3)	3						c.(1129-1131)CGA>CCA		hypothetical protein LOC151050							140.0	126.0	131.0					2																	210993855		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210993855C>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1130G>C	2.37:g.210993855C>G	ENSP00000281772:p.Arg377Pro					C2orf67_uc002vdt.2_Missense_Mutation_p.R377P|C2orf67_uc002vdw.2_Missense_Mutation_p.R377P|C2orf67_uc002vdv.2_Missense_Mutation_p.R377P|C2orf67_uc002vdx.1_Missense_Mutation_p.R377P	p.R377P	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	3	1338	-		Renal(323;0.202)	377					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1130G>C	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.60|17.60	3.429054|3.429054	0.62844|0.62844	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.|.	.|.	.|.	5.52|5.52	4.63|4.63	0.57726|0.57726	.|.	.|0.091678	.|0.46145	.|D	.|0.000318	T|T	0.58438|0.58438	0.2122|0.2122	L|L	0.40543|0.40543	1.245|1.245	0.35519|0.35519	D|D	0.801317|0.801317	.|D;D;D;D	.|0.64830	.|0.989;0.994;0.969;0.969	.|P;P;P;P	.|0.58620	.|0.842;0.84;0.713;0.713	T|T	0.67369|0.67369	-0.5688|-0.5688	5|9	.|0.42905	.|T	.|0.14	.|.	13.4348|13.4348	0.61077|0.61077	0.0:0.9233:0.0:0.0767|0.0:0.9233:0.0:0.0767	.|.	.|377;377;377;377	.|A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.|.;.;.;CB067_HUMAN	Q|P	51;96|377	.|.	.|ENSP00000281772:R377P	E|R	-|-	1|2	0|0	C2orf67|C2orf67	210702100|210702100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.205000|1.205000	0.32308|0.32308	1.293000|1.293000	0.44690|0.44690	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.433	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3		NM_152519		14	114	0	0	0	0.001855	0	14	114		
IKZF2	22807	broad.mit.edu	37	2	213872434	213872434	+	Missense_Mutation	SNP	C	C	G	rs76325907		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:213872434C>G	ENST00000434687.1	-	9	1540	c.1231G>C	c.(1231-1233)Gaa>Caa	p.E411Q	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Missense_Mutation_p.E337Q|IKZF2_ENST00000342002.2_Missense_Mutation_p.E417Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Missense_Mutation_p.E385Q|IKZF2_ENST00000374327.4_Missense_Mutation_p.E266Q|IKZF2_ENST00000457361.1_Missense_Mutation_p.E411Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.E339Q			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	411					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGCTGCTTTCTGAGTCAGTG	0.507																																						uc002vem.2		NaN																	0					0						c.(1231-1233)GAA>CAA		helios isoform 1							168.0	167.0	167.0					2																	213872434		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872434C>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1231G>C	2.37:g.213872434C>G	ENSP00000412869:p.Glu411Gln					IKZF2_uc010fuu.2_Missense_Mutation_p.E266Q|IKZF2_uc002vej.2_Missense_Mutation_p.E358Q|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.E337Q|IKZF2_uc002vel.2_Missense_Mutation_p.E332Q|IKZF2_uc010fuw.2_Missense_Mutation_p.E185Q|IKZF2_uc010fux.2_Missense_Mutation_p.E185Q|IKZF2_uc010fuy.2_Missense_Mutation_p.E339Q|IKZF2_uc002ven.2_Missense_Mutation_p.E385Q|IKZF2_uc002vei.2_Missense_Mutation_p.E189Q	p.E411Q	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1400	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	411					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.1231G>C	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258546	0.80246	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.16897	3.04;3.01;3.04;3.07;2.96;3.07;2.31	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.75447	2.3	0.80722	D	1	P;P;D;D;P;P	0.69078	0.825;0.787;0.997;0.983;0.856;0.835	P;P;P;D;P;P	0.63283	0.561;0.479;0.849;0.913;0.464;0.529	T	0.20472	-1.0274	10	0.87932	D	0	-8.2416	20.7342	0.99715	0.0:1.0:0.0:0.0	.	339;337;266;385;411;189	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	Q	411;417;411;385;339;337;266;115	ENSP00000410447:E411Q;ENSP00000342876:E417Q;ENSP00000412869:E411Q;ENSP00000363439:E385Q;ENSP00000395203:E339Q;ENSP00000399574:E337Q;ENSP00000363447:E266Q	ENSP00000342876:E417Q	E	-	1	0	IKZF2	213580679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.898000	0.69838	2.906000	0.99361	0.655000	0.94253	GAA		0.507	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3		NM_016260		86	171	0	0	0	0.00361	0	86	171		
ATIC	471	broad.mit.edu	37	2	216213870	216213870	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216213870C>T	ENST00000236959.9	+	15	1883	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	ATIC_ENST00000540518.1_Silent_p.L460L|ATIC_ENST00000435675.1_Silent_p.L518L	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	519					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGAGTTACTCACTGAGGCAG	0.448			T	ALK	ALCL																																	uc002vex.3		NaN		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(1555-1557)CTC>CTT		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						130.0	128.0	128.0					2																	216213870		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216213870C>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1557C>T	2.37:g.216213870C>T						ATIC_uc010zjo.1_Silent_p.L460L|ATIC_uc002vey.3_Silent_p.L518L	p.L519L	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	15	1731	+		Renal(323;0.229)	519					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.1557C>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533944	0.13188	.	.	ENSG00000138363	ENST00000426233	.	.	.	5.78	-0.894	0.10563	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38520	-0.9657	4	.	.	.	-6.9296	6.6397	0.22903	0.3878:0.356:0.2562:0.0	.	.	.	.	Y	188	.	.	H	+	1	0	ATIC	215922115	0.926000	0.31397	0.043000	0.18650	0.797000	0.45037	0.055000	0.14229	-0.377000	0.07930	-0.271000	0.10264	CAC		0.448	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1		NM_004044		34	87	0	0	0	0.003755	0	34	87		
FN1	2335	broad.mit.edu	37	2	216273063	216273063	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:216273063C>A	ENST00000359671.1	-	16	2651	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	FN1_ENST00000346544.3_Missense_Mutation_p.D796Y|FN1_ENST00000357009.2_Missense_Mutation_p.D796Y|FN1_ENST00000336916.4_Missense_Mutation_p.D796Y|FN1_ENST00000446046.1_Missense_Mutation_p.D796Y|FN1_ENST00000421182.1_Missense_Mutation_p.D796Y|FN1_ENST00000345488.5_Missense_Mutation_p.D796Y|FN1_ENST00000357867.4_Missense_Mutation_p.D796Y|FN1_ENST00000443816.1_Missense_Mutation_p.D796Y|FN1_ENST00000356005.4_Missense_Mutation_p.D796Y|FN1_ENST00000354785.4_Missense_Mutation_p.D796Y|FN1_ENST00000323926.6_Missense_Mutation_p.D796Y|FN1_ENST00000432072.2_Missense_Mutation_p.D796Y			P02751	FINC_HUMAN	fibronectin 1	796	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGCTCCCCATCCTCAGATATC	0.408																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2386-2388)GAT>TAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						112.0	110.0	111.0					2																	216273063		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216273063C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2386G>T	2.37:g.216273063C>A	ENSP00000352696:p.Asp796Tyr					FN1_uc002vfb.2_Missense_Mutation_p.D796Y|FN1_uc002vfc.2_Missense_Mutation_p.D796Y|FN1_uc002vfd.2_Missense_Mutation_p.D796Y|FN1_uc002vfe.2_Missense_Mutation_p.D796Y|FN1_uc002vff.2_Missense_Mutation_p.D796Y|FN1_uc002vfg.2_Missense_Mutation_p.D796Y|FN1_uc002vfh.2_Missense_Mutation_p.D796Y|FN1_uc002vfi.2_Missense_Mutation_p.D796Y|FN1_uc002vfj.2_Missense_Mutation_p.D796Y	p.D796Y	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	16	2652	-		Renal(323;0.127)	796			Fibronectin type-III 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2386G>T		.	.	.	.	.	.	.	.	.	.	C	16.41	3.115512	0.56505	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.93	5.93	0.95920	.	0.168608	0.40144	N	0.001168	T	0.56411	0.1983	N	0.08118	0	0.38541	D	0.949225	D;P;D;P;D;P;P;P;P;D	0.76494	0.993;0.919;0.999;0.803;0.993;0.919;0.941;0.803;0.803;0.982	P;B;D;B;P;P;P;B;B;P	0.68621	0.903;0.418;0.959;0.29;0.851;0.546;0.884;0.29;0.29;0.801	T	0.66693	-0.5859	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	796;796;796;796;796;796;796;796;796;796	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	Y	796	ENSP00000394423:D796Y;ENSP00000323534:D796Y;ENSP00000338200:D796Y;ENSP00000350534:D796Y;ENSP00000346839:D796Y;ENSP00000352696:D796Y;ENSP00000265312:D796Y;ENSP00000273049:D796Y;ENSP00000349509:D796Y;ENSP00000410422:D796Y;ENSP00000415018:D796Y;ENSP00000399538:D796Y;ENSP00000348285:D796Y	ENSP00000265313:D796Y	D	-	1	0	FN1	215981308	1.000000	0.71417	0.970000	0.41538	0.159000	0.22180	4.888000	0.63164	2.814000	0.96858	0.655000	0.94253	GAT		0.408	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		24	67	1	0	1.22574e-08	0.002299	1.49836e-08	24	67		
RNF25	64320	broad.mit.edu	37	2	219532976	219532976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219532976G>A	ENST00000295704.2	-	3	645	c.205C>T	c.(205-207)Cag>Tag	p.Q69*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	69	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGGACCTGAAGCACCAGA	0.547																																						uc002vit.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(205-207)CAG>TAG		ring finger protein 25							72.0	74.0	73.0					2																	219532976		2203	4300	6503	SO:0001587	stop_gained	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219532976G>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.205C>T	2.37:g.219532976G>A	ENSP00000295704:p.Gln69*					RNF25_uc010fvw.2_5'UTR	p.Q69*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	293	-		Renal(207;0.0474)	69			RWD.		A8K0D6|Q53HQ5|Q9H874	Nonsense_Mutation	SNP	ENST00000295704.2	37	c.205C>T	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283221	0.98186	.	.	ENSG00000163481	ENST00000295704	.	.	.	5.38	5.38	0.77491	.	0.568045	0.19575	N	0.111014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9864	4.8294	0.13432	0.1842:0.1864:0.6294:0.0	.	.	.	.	X	69	.	ENSP00000295704:Q69X	Q	-	1	0	RNF25	219241220	0.076000	0.21285	1.000000	0.80357	0.998000	0.95712	1.245000	0.32790	2.821000	0.97095	0.555000	0.69702	CAG		0.547	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		NM_022453		26	56	0	0	0	0.00333	0	26	56		
TTLL4	9654	broad.mit.edu	37	2	219603658	219603658	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219603658G>A	ENST00000392102.1	+	3	1599	c.1259G>A	c.(1258-1260)aGc>aAc	p.S420N	TTLL4_ENST00000457313.1_Missense_Mutation_p.S255N|TTLL4_ENST00000442769.1_Missense_Mutation_p.S420N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S420N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	420					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAGCGTATCAGCATTCACCTC	0.532																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NaN																	0				ovary(2)|skin(1)	3						c.(1258-1260)AGC>AAC		tubulin tyrosine ligase-like family, member 4							132.0	127.0	129.0					2																	219603658		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603658G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1259G>A	2.37:g.219603658G>A	ENSP00000375951:p.Ser420Asn					TTLL4_uc010zkl.1_Missense_Mutation_p.S255N|TTLL4_uc010fvx.2_Missense_Mutation_p.S420N	p.S420N	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1629	+		Renal(207;0.0915)	420					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1259G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834894	0.71373	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05649	3.67;3.9;3.41;3.9	4.67	4.67	0.58626	.	0.237077	0.41097	D	0.000957	T	0.15652	0.0377	L	0.34521	1.04	0.30751	N	0.745156	P;D;P	0.71674	0.816;0.998;0.9	B;D;P	0.78314	0.286;0.991;0.514	T	0.00666	-1.1619	10	0.54805	T	0.06	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	255;420;420	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	N	255;420;420;420	ENSP00000393332:S255N;ENSP00000375951:S420N;ENSP00000396555:S420N;ENSP00000258398:S420N	ENSP00000258398:S420N	S	+	2	0	TTLL4	219311902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.976000	0.56867	2.430000	0.82344	0.561000	0.74099	AGC		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640		29	95	0	0	0	0.007291	0	29	95		
WNT6	7475	broad.mit.edu	37	2	219738481	219738481	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219738481G>C	ENST00000233948.3	+	4	1229	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	338					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTCGAAGAGAACTGCCT	0.711																																						uc002vjc.1		NaN																	0				ovary(2)|skin(1)	3						c.(1012-1014)GAG>CAG		wingless-type MMTV integration site family,							12.0	9.0	10.0					2																	219738481		2129	4199	6328	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219738481G>C	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1012G>C	2.37:g.219738481G>C	ENSP00000233948:p.Glu338Gln						p.E338Q	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1227	+		Renal(207;0.0474)	338					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.1012G>C	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.562300	0.86335	.	.	ENSG00000115596	ENST00000233948	T	0.77877	-1.13	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87434	0.2390	10	0.40728	T	0.16	.	15.9676	0.79985	0.0:0.0:1.0:0.0	.	338	Q9Y6F9	WNT6_HUMAN	Q	338	ENSP00000233948:E338Q	ENSP00000233948:E338Q	E	+	1	0	WNT6	219446725	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.533000	0.98059	2.223000	0.72356	0.556000	0.70494	GAG		0.711	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2		NM_006522		3	14	0	0	0	0.004672	0	3	14		
IHH	3549	broad.mit.edu	37	2	219920403	219920403	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:219920403C>T	ENST00000295731.6	-	3	761	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	254					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGGCTCTCAGCCTGTGAG	0.652																																						uc002vjo.1		NaN																	0				breast(1)	1						c.(760-762)CTG>CTA		Indian hedgehog homolog precursor							54.0	57.0	56.0					2																	219920403		2203	4300	6503	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920403C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.762G>A	2.37:g.219920403C>T							p.L254L	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	762	-		Renal(207;0.0915)	254					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.762G>A	CCDS33380.1																																																																																				0.652	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2		NM_002181		20	25	0	0	0	0.007413	0	20	25		
PAX3	5077	broad.mit.edu	37	2	223065952	223065952	+	3'UTR	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:223065952G>C	ENST00000350526.4	-	0	2267				PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.F404L|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.Q487E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAAGGATTTGAAACCAACTA	0.408			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc002vmt.1		NaN		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(1459-1461)CAA>GAA		paired box 3 isoform PAX3e							108.0	106.0	106.0					2																	223065952		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223065952G>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*691C>G	2.37:g.223065952G>C						PAX3_uc002vmy.1_3'UTR|PAX3_uc002vmv.1_3'UTR|PAX3_uc002vmw.1_Missense_Mutation_p.F404L|PAX3_uc002vmx.1_3'UTR	p.Q487E	NM_181459	NP_852124	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1825	-		Renal(207;0.0183)	Error:Variant_position_missing_in_P23760_after_alignment					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1459C>G	CCDS42826.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.020|0.020	-1.440434|-1.440434	0.01098|0.01098	.|.	.|.	ENSG00000135903|ENSG00000135903	ENST00000336840|ENST00000392069	D|D	0.93659|0.93659	-3.26|-3.26	5.77|5.77	3.96|3.96	0.45880|0.45880	.|.	.|0.808529	.|0.10873	.|N	.|0.624748	D|D	0.89924|0.89924	0.6856|0.6856	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|B	0.20052|0.11235	0.041|0.004	B|B	0.23574|0.18263	0.047|0.021	D|D	0.85776|0.85776	0.1358|0.1358	8|9	0.33141|0.56958	T|D	0.24|0.05	.|.	8.9989|8.9989	0.36069|0.36069	0.2265:0.0:0.7735:0.0|0.2265:0.0:0.7735:0.0	.|.	404|487	P23760-5|G5E9C1	.|.	L|E	404|487	ENSP00000338767:F404L|ENSP00000375921:Q487E	ENSP00000338767:F404L|ENSP00000375921:Q487E	F|Q	-|-	3|1	2|0	PAX3|PAX3	222774196|222774196	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.112000|0.112000	0.19704|0.19704	2.135000|2.135000	0.42112|0.42112	1.578000|1.578000	0.49821|0.49821	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.408	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1				10	43	0	0	0	0.000978	0	10	43		
DOCK10	55619	broad.mit.edu	37	2	225642870	225642870	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:225642870G>C	ENST00000258390.7	-	51	5854	c.5787C>G	c.(5785-5787)atC>atG	p.I1929M	DOCK10_ENST00000409592.3_Missense_Mutation_p.I1923M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1929	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGAATCCTGGATTATCTTCA	0.353																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(5785-5787)ATC>ATG		dedicator of cytokinesis 10							111.0	99.0	103.0					2																	225642870		1842	4090	5932	SO:0001583	missense	55619						GTP binding	g.chr2:225642870G>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5787C>G	2.37:g.225642870G>C	ENSP00000258390:p.Ile1929Met					DOCK10_uc002vob.2_Missense_Mutation_p.I1923M|DOCK10_uc002voa.2_Missense_Mutation_p.I585M	p.I1929M	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	51	6026	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1929			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5787C>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.893393|2.893393	0.52121|0.52121	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.25085|.	1.82;1.82|.	6.05|6.05	0.086|0.086	0.14444|0.14444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66665|0.66665	0.2812|0.2812	M|M	0.87456|0.87456	2.885|2.885	0.43942|0.43942	D|D	0.996605|0.996605	P;P;D|.	0.61080|.	0.771;0.943;0.989|.	P;P;P|.	0.60236|.	0.596;0.871;0.844|.	T|T	0.63139|0.63139	-0.6704|-0.6704	10|5	0.87932|.	D|.	0|.	.|.	4.026|4.026	0.09687|0.09687	0.4039:0.0:0.3446:0.2514|0.4039:0.0:0.3446:0.2514	.|.	1929;1923;591|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	M|A	1923;1929;436|79	ENSP00000386694:I1923M;ENSP00000258390:I1929M|.	ENSP00000258390:I1929M|.	I|P	-|-	3|1	3|0	DOCK10|DOCK10	225351114|225351114	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	0.615000|0.615000	0.24329|0.24329	-0.009000|-0.009000	0.14296|0.14296	-0.355000|-0.355000	0.07637|0.07637	ATC|CCA		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				8	30	0	0	0	0.004482	0	8	30		
COL4A3	1285	broad.mit.edu	37	2	228174028	228174028	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228174028C>T	ENST00000396578.3	+	50	4911	c.4749C>T	c.(4747-4749)ttC>ttT	p.F1583F	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1583	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATTTTCATTCATCATGGTGA	0.473																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(4747-4749)TTC>TTT		alpha 3 type IV collagen isoform 1 precursor							54.0	53.0	53.0					2																	228174028		1942	4163	6105	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228174028C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4749C>T	2.37:g.228174028C>T						COL4A3_uc002von.1_Silent_p.F1583F|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	p.F1583F	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	50	4911	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1583			Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4749C>T	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		5	22	0	0	0	0.001168	0	5	22		
SPHKAP	80309	broad.mit.edu	37	2	228883230	228883230	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:228883230C>T	ENST00000392056.3	-	7	2386	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	SPHKAP_ENST00000344657.5_Silent_p.T780T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	780						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACAAGACTCGTGTTGTGTG	0.502																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(2338-2340)ACG>ACA		sphingosine kinase type 1-interacting protein							250.0	245.0	247.0					2																	228883230		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228883230C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2340G>A	2.37:g.228883230C>T						SPHKAP_uc002vpp.2_Silent_p.T780T|SPHKAP_uc010zlx.1_Silent_p.T780T	p.T780T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2387	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	780					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2340G>A	CCDS46537.1																																																																																				0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		46	124	0	0	0	0.00361	0	46	124		
GPR55	9290	broad.mit.edu	37	2	231775629	231775629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:231775629C>T	ENST00000392040.1	-	2	241	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.E17K	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	17					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCATCAGCTCGTTGACACCG	0.527																																						uc002vrg.2		NaN																	0				ovary(1)	1						c.(49-51)GAG>AAG		G protein-coupled receptor 55							122.0	114.0	117.0					2																	231775629		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775629C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.49G>A	2.37:g.231775629C>T	ENSP00000375894:p.Glu17Lys					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.E17K	p.E17K	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	242	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	17			Extracellular (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.49G>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857951	0.17178	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.38401	1.14;1.14;1.14	5.05	-3.58	0.04597	.	1.806780	0.02285	N	0.069724	T	0.18635	0.0447	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06698	-1.0812	10	0.21014	T	0.42	-1.9242	1.9616	0.03387	0.1238:0.1771:0.2442:0.4548	.	17	Q9Y2T6	GPR55_HUMAN	K	17	ENSP00000375894:E17K;ENSP00000375893:E17K;ENSP00000412768:E17K	ENSP00000375893:E17K	E	-	1	0	GPR55	231483873	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.699000	0.05087	-0.537000	0.06290	0.585000	0.79938	GAG		0.527	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1		NM_005683		17	75	0	0	0	0.004007	0	17	75		
DGKD	8527	broad.mit.edu	37	2	234343105	234343105	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:234343105C>T	ENST00000264057.2	+	4	440	c.428C>T	c.(427-429)aCt>aTt	p.T143I	DGKD_ENST00000409813.3_Missense_Mutation_p.T99I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	143	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCATTAAAGACTGTGCAGAAC	0.443																																						uc002vui.1		NaN																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(427-429)ACT>ATT		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						148.0	147.0	147.0					2																	234343105		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343105C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.428C>T	2.37:g.234343105C>T	ENSP00000264057:p.Thr143Ile					DGKD_uc002vuj.1_Missense_Mutation_p.T99I|DGKD_uc010fyh.1_Missense_Mutation_p.T10I|DGKD_uc002vuk.1_Missense_Mutation_p.T10I	p.T143I	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	4	440	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	143			PH.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.428C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763551	0.49574	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	T;T;T;T	0.75260	-0.92;1.52;-0.92;-0.92	4.89	4.89	0.63831	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.230696	0.37012	N	0.002286	T	0.76219	0.3957	L	0.34521	1.04	0.44789	D	0.997793	B;B;D;P	0.53151	0.138;0.439;0.958;0.773	B;B;P;B	0.53649	0.045;0.109;0.731;0.348	T	0.79443	-0.1801	10	0.87932	D	0	.	18.6329	0.91366	0.0:1.0:0.0:0.0	.	27;79;99;143	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	I	143;79;113;99	ENSP00000264057:T143I;ENSP00000407938:T79I;ENSP00000395530:T113I;ENSP00000386455:T99I	ENSP00000264057:T143I	T	+	2	0	DGKD	234007844	0.986000	0.35501	0.996000	0.52242	0.909000	0.53808	2.217000	0.42880	2.717000	0.92951	0.563000	0.77884	ACT		0.443	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2		NM_003648		15	93	0	0	0	0.00245	0	15	93		
GPC1	2817	broad.mit.edu	37	2	241404929	241404929	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:241404929G>C	ENST00000264039.2	+	8	1556	c.1308G>C	c.(1306-1308)caG>caC	p.Q436H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	436					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGGCCAACCAGATCAACAACC	0.627																																						uc002vyw.3		NaN																	0				breast(1)	1						c.(1306-1308)CAG>CAC		glypican 1 precursor							105.0	87.0	93.0					2																	241404929		2203	4300	6503	SO:0001583	missense	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241404929G>C	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1308G>C	2.37:g.241404929G>C	ENSP00000264039:p.Gln436His						p.Q436H	NM_002081	NP_002072	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	8	1529	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	436					B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	c.1308G>C	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461905|3.461905	0.63513|0.63513	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138;ENST00000455111|ENST00000264039	.|T	.|0.60299	.|0.2	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.71576|0.71576	0.3356|0.3356	M|M	0.77406|0.77406	2.37|2.37	0.53688|0.53688	D|D	0.999978|0.999978	.|D	.|0.76494	.|0.999	.|D	.|0.75484	.|0.986	T|T	0.73723|0.73723	-0.3893|-0.3893	5|10	.|0.87932	.|D	.|0	-31.1114|-31.1114	7.2375|7.2375	0.26077|0.26077	0.1298:0.0:0.8702:0.0|0.1298:0.0:0.8702:0.0	.|.	.|436	.|P35052	.|GPC1_HUMAN	H|H	476;188|436	.|ENSP00000264039:Q436H	.|ENSP00000264039:Q436H	D|Q	+|+	1|3	0|2	GPC1|GPC1	241053602|241053602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	6.429000|6.429000	0.73387|0.73387	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GAT|CAG		0.627	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3		NM_002081		4	42	0	0	0	0.000248	0	4	42		
SEPT2	4735	broad.mit.edu	37	2	242285646	242285646	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242285646G>C	ENST00000391973.2	+	10	1436	c.908G>C	c.(907-909)aGa>aCa	p.R303T	SEPT2_ENST00000360051.3_Missense_Mutation_p.R303T|SEPT2_ENST00000402092.2_Missense_Mutation_p.R303T|SEPT2_ENST00000401990.1_Missense_Mutation_p.R313T|SEPT2_ENST00000407971.1_Missense_Mutation_p.R263T|SEPT2_ENST00000391971.2_Missense_Mutation_p.R303T	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	303	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CGTTCTGAGAGACTCAAGAGA	0.517																																						uc002wbc.2		NaN																	0				central_nervous_system(1)	1						c.(907-909)AGA>ACA		septin 2							89.0	77.0	81.0					2																	242285646		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242285646G>C	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.908G>C	2.37:g.242285646G>C	ENSP00000375834:p.Arg303Thr					SEPT2_uc002wbd.2_Missense_Mutation_p.R303T|SEPT2_uc002wbf.2_Missense_Mutation_p.R303T|SEPT2_uc002wbg.2_Missense_Mutation_p.R303T|SEPT2_uc002wbh.2_Missense_Mutation_p.R313T|SEPT2_uc010zop.1_Missense_Mutation_p.R338T	p.R303T	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	11	1329	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	303					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.908G>C	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836991	0.91117	.	.	ENSG00000168385	ENST00000391973;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	M	0.76328	2.33	0.80722	D	1	B;P;P	0.48230	0.382;0.907;0.867	B;P;P	0.53102	0.059;0.54;0.718	T	0.63567	-0.6608	10	0.48119	T	0.1	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	338;263;303	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	T	303;303;303;313;263;303;338	ENSP00000375834:R303T;ENSP00000353157:R303T;ENSP00000375832:R303T;ENSP00000385109:R313T;ENSP00000384525:R263T;ENSP00000385172:R303T	ENSP00000353157:R303T	R	+	2	0	SEPT2	241934319	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.273000	0.95719	2.804000	0.96469	0.655000	0.94253	AGA		0.517	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3		NM_006155		11	24	0	0	0	0.008291	0	11	24		
PDCD1	5133	broad.mit.edu	37	2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:242794494C>T	ENST00000334409.5	-	3	517	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	150					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677																																						uc002wcq.3		NaN																	0				ovary(1)	1						c.(448-450)GAA>AAA		programmed cell death 1 precursor							14.0	18.0	17.0					2																	242794494		2195	4292	6487	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794494C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.448G>A	2.37:g.242794494C>T	ENSP00000335062:p.Glu150Lys					PDCD1_uc010fzs.2_Intron|PDCD1_uc010fzt.2_RNA	p.E150K	NM_005018	NP_005009	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	3	516	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	150			Extracellular (Potential).		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.448G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353940	0.24512	.	.	ENSG00000188389	ENST00000334409	T	0.64260	-0.09	3.28	1.46	0.22682	.	0.253106	0.27298	N	0.020005	T	0.49898	0.1584	M	0.62723	1.935	0.09310	N	1	P	0.40000	0.698	B	0.33846	0.171	T	0.47328	-0.9126	10	0.56958	D	0.05	-7.8649	5.5708	0.17196	0.0:0.7385:0.0:0.2615	.	150	Q15116	PDCD1_HUMAN	K	150	ENSP00000335062:E150K	ENSP00000335062:E150K	E	-	1	0	PDCD1	242443167	0.009000	0.17119	0.000000	0.03702	0.063000	0.16089	1.459000	0.35234	0.398000	0.25338	0.305000	0.20034	GAA		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1		NM_005018		15	25	0	0	0	0.00499	0	15	25		
ANGPT4	51378	broad.mit.edu	37	20	854974	854974	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:854974G>C	ENST00000381922.3	-	8	1406	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	435	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTCGTTGTCTGAGTCAAGGGT	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NaN																	0				ovary(2)	2						c.(1303-1305)TCA>TGA		angiopoietin 4 precursor							123.0	93.0	103.0					20																	854974		2203	4300	6503	SO:0001587	stop_gained	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:854974G>C	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1304C>G	20.37:g.854974G>C	ENSP00000371347:p.Ser435*					ANGPT4_uc010zpn.1_Intron	p.S435*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			8	1407	-			435			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Nonsense_Mutation	SNP	ENST00000381922.3	37	c.1304C>G	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856816	0.51376	.	.	ENSG00000101280	ENST00000381922	.	.	.	5.15	3.05	0.35203	.	0.688924	0.14115	N	0.340448	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.3122	0.15837	0.1857:0.17:0.6443:0.0	.	.	.	.	X	435	.	ENSP00000371347:S435X	S	-	2	0	ANGPT4	802974	0.001000	0.12720	0.008000	0.14137	0.053000	0.15095	1.146000	0.31589	1.147000	0.42369	0.655000	0.94253	TCA		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		NM_015985		26	90	0	0	0	0.005443	0	26	90		
NSFL1C	55968	broad.mit.edu	37	20	1447415	1447415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:1447415C>A	ENST00000216879.4	-	1	922	c.55G>T	c.(55-57)Gag>Tag	p.E19*	NSFL1C_ENST00000353088.2_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000350991.4_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000476071.1_Nonsense_Mutation_p.E19*|NSFL1C_ENST00000381658.4_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	19						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CGGTCCTCCTCGGCGCCCGTC	0.746																																						uc002wfc.2		NaN																	0					0						c.(55-57)GAG>TAG		p47 protein isoform a							7.0	8.0	8.0					20																	1447415		1996	3942	5938	SO:0001587	stop_gained	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1447415C>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.55G>T	20.37:g.1447415C>A	ENSP00000216879:p.Glu19*					NSFL1C_uc002wfd.2_5'UTR|NSFL1C_uc002wfe.2_Nonsense_Mutation_p.E19*|NSFL1C_uc002wff.2_RNA	p.E19*	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			1	1003	-			19					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Nonsense_Mutation	SNP	ENST00000216879.4	37	c.55G>T	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	37	6.587929	0.97684	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000350991	.	.	.	3.75	3.75	0.43078	.	0.061000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.9826	15.7385	0.77866	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000216879:E19X	E	-	1	0	NSFL1C	1395415	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	5.732000	0.68563	1.899000	0.54978	0.455000	0.32223	GAG		0.746	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2		NM_016143		3	8	1	0	0.00024832	0.000248	0.000295521	3	8		
CPXM1	56265	broad.mit.edu	37	20	2776510	2776510	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:2776510C>A	ENST00000380605.2	-	11	1519	c.1455G>T	c.(1453-1455)tgG>tgT	p.W485C		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	485					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCGCTTCATCCACTTGATTA	0.637																																						uc002wgu.2		NaN																	0				ovary(2)|skin(2)	4						c.(1453-1455)TGG>TGT		carboxypeptidase X, member 1 precursor							66.0	62.0	63.0					20																	2776510		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776510C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1455G>T	20.37:g.2776510C>A	ENSP00000369979:p.Trp485Cys					CPXM1_uc010gas.2_Missense_Mutation_p.W485C	p.W485C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			11	1519	-			485					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1455G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744723	0.69418	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.12039	2.72	5.15	5.15	0.70609	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70702	-0.4799	10	0.87932	D	0	-17.1867	16.1595	0.81693	0.0:1.0:0.0:0.0	.	485	Q96SM3	CPXM1_HUMAN	C	485;181	ENSP00000369979:W485C	ENSP00000369979:W485C	W	-	3	0	CPXM1	2724510	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.651000	0.83577	2.687000	0.91594	0.563000	0.77884	TGG		0.637	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2		NM_019609		21	70	1	0	1.96292e-10	0.001523	2.43673e-10	21	70		
ZNF133	7692	broad.mit.edu	37	20	18286394	18286394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:18286394C>T	ENST00000316358.4	+	2	161	c.64C>T	c.(64-66)Caa>Taa	p.Q22*	ZNF133_ENST00000401790.1_Nonsense_Mutation_p.Q22*|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.Q25*|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000535822.1_Intron|ZNF133_ENST00000377671.3_Nonsense_Mutation_p.Q22*	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAGCCCTGCTCAAAGGACTCT	0.512																																						uc010gcq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(64-66)CAA>TAA		zinc finger protein 133							107.0	95.0	99.0					20																	18286394		2203	4300	6503	SO:0001587	stop_gained	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18286394C>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.64C>T	20.37:g.18286394C>T	ENSP00000346090:p.Gln22*					ZNF133_uc010zrv.1_Nonsense_Mutation_p.Q25*|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Nonsense_Mutation_p.Q22*|ZNF133_uc010gcs.2_Nonsense_Mutation_p.Q22*|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Nonsense_Mutation_p.Q22*	p.Q22*	NM_003434	NP_003425	P52736	ZN133_HUMAN			3	369	+			22			KRAB.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Nonsense_Mutation	SNP	ENST00000316358.4	37	c.64C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.828508	0.98968	.	.	ENSG00000125846	ENST00000377671;ENST00000360010;ENST00000396026;ENST00000401790;ENST00000434018;ENST00000316358;ENST00000425686	.	.	.	3.69	3.69	0.42338	.	0.000000	0.36444	N	0.002598	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9122	13.3086	0.60368	0.0:1.0:0.0:0.0	.	.	.	.	X	22;22;25;22;22;22;22	.	ENSP00000346090:Q22X	Q	+	1	0	ZNF133	18234394	0.995000	0.38212	1.000000	0.80357	0.938000	0.57974	3.655000	0.54460	2.079000	0.62486	0.591000	0.81541	CAA		0.512	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1		NM_003434		30	69	0	0	0	0.002096	0	30	69		
CFAP61	26074	broad.mit.edu	37	20	20177312	20177312	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:20177312C>G	ENST00000245957.5	+	16	1765	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		563										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTTGCCCTCAACCCCATTT	0.463																																						uc002wru.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1687-1689)CTC>CTG		hypothetical protein LOC26074							156.0	134.0	141.0					20																	20177312		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20177312C>G																												ENST00000245957.5:c.1689C>G	20.37:g.20177312C>G						C20orf26_uc010zse.1_Silent_p.L543L	p.L563L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1765	+			563					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1689C>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130048	0.21041	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.83	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7356	0.12986	0.2494:0.2446:0.5059:0.0	.	.	.	.	X	103	.	.	S	+	2	0	C20orf26	20125312	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.942000	0.29017	1.461000	0.47929	0.655000	0.94253	TCA		0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3				34	97	0	0	0	0.002836	0	34	97		
THBD	7056	broad.mit.edu	37	20	23028421	23028421	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:23028421C>T	ENST00000377103.2	-	1	1957	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	574					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CGCTCAGAGTCTCTGCGGCGT	0.647																																						uc002wss.2		NaN																	0					0						c.(1720-1722)AGA>AAA		thrombomodulin precursor	Drotrecogin alfa(DB00055)						13.0	13.0	13.0					20																	23028421		2187	4282	6469	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028421C>T		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1721G>A	20.37:g.23028421C>T	ENSP00000366307:p.Arg574Lys					THBD_uc002wst.1_RNA	p.R574K	NM_000361	NP_000352	P07204	TRBM_HUMAN			1	1881	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		574			Cytoplasmic (Potential).		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.1721G>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	0.632	-0.816796	0.02776	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.77877	-1.13	5.39	2.99	0.34606	.	0.795361	0.10834	N	0.628951	T	0.37183	0.0994	N	0.00347	-1.61	0.20638	N	0.999879	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	10	0.02654	T	1	-3.8574	5.1704	0.15107	0.0:0.1045:0.1766:0.7189	.	574	P07204	TRBM_HUMAN	K	574;556	ENSP00000366307:R574K	ENSP00000366307:R574K	R	-	2	0	THBD	22976421	0.005000	0.15991	0.834000	0.33040	0.043000	0.13939	-0.037000	0.12164	0.296000	0.22592	-0.305000	0.09177	AGA		0.647	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2				6	8	0	0	0	0.001168	0	6	8		
NCOA6	23054	broad.mit.edu	37	20	33370146	33370146	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33370146C>G	ENST00000374796.2	-	4	2583	c.13G>C	c.(13-15)Gac>Cac	p.D5H	NCOA6_ENST00000359003.2_Missense_Mutation_p.D5H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	5	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTGGAAGGTCATCCAAAACC	0.368																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(13-15)GAC>CAC		nuclear receptor coactivator 6							49.0	44.0	45.0					20																	33370146		2203	4299	6502	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33370146C>G	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.13G>C	20.37:g.33370146C>G	ENSP00000363929:p.Asp5His					NCOA6_uc002xaw.2_Missense_Mutation_p.D5H|NCOA6_uc010gew.1_Missense_Mutation_p.D5H	p.D5H	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2584	-			5			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.13G>C	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074364	0.76415	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.28454	1.61;1.61	5.84	4.89	0.63831	.	0.000000	0.64402	D	0.000003	T	0.32496	0.0831	N	0.19112	0.55	0.36618	D	0.875601	P;D	0.59357	0.815;0.985	P;P	0.58620	0.49;0.842	T	0.28618	-1.0038	10	0.87932	D	0	-11.7241	9.3016	0.37849	0.1451:0.7828:0.0:0.0721	.	5;5	F6M2K2;Q14686	.;NCOA6_HUMAN	H	5	ENSP00000363929:D5H;ENSP00000351894:D5H	ENSP00000351894:D5H	D	-	1	0	NCOA6	32833807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.592000	0.53993	2.758000	0.94735	0.591000	0.81541	GAC		0.368	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		14	47	0	0	0	0.001855	0	14	47		
PROCR	10544	broad.mit.edu	37	20	33762609	33762609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762609G>A	ENST00000216968.4	+	2	257	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	59					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCACGTGCTGGAAGGCCCAGA	0.617																																						uc002xbt.2		NaN																	0					0						c.(175-177)GAA>AAA		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						95.0	72.0	80.0					20																	33762609		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762609G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.175G>A	20.37:g.33762609G>A	ENSP00000216968:p.Glu59Lys					EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.E96K	p.E59K	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	359	+			59			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.175G>A	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	16.55	3.154844	0.57259	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.83163	-1.69	5.22	3.25	0.37280	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.095862	0.45126	D	0.000387	T	0.72236	0.3435	L	0.52364	1.645	0.44247	D	0.99709	P	0.36110	0.537	B	0.25614	0.062	T	0.68273	-0.5452	10	0.54805	T	0.06	-7.1329	6.6916	0.23174	0.091:0.0:0.7335:0.1755	.	59	Q9UNN8	EPCR_HUMAN	K	59	ENSP00000216968:E59K	ENSP00000216968:E59K	E	+	1	0	PROCR	33226270	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	1.191000	0.32138	0.581000	0.29539	-0.322000	0.08575	GAA		0.617	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3				27	75	0	0	0	0.005443	0	27	75		
PROCR	10544	broad.mit.edu	37	20	33762683	33762683	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33762683G>C	ENST00000216968.4	+	2	331	c.249G>C	c.(247-249)caG>caC	p.Q83H	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	83					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGCGCACGCAGAGTGGCCTGC	0.682																																						uc002xbt.2		NaN																	0					0						c.(247-249)CAG>CAC		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						46.0	34.0	38.0					20																	33762683		2202	4300	6502	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762683G>C	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.249G>C	20.37:g.33762683G>C	ENSP00000216968:p.Gln83His					EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.Q120H	p.Q83H	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	433	+			83			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.249G>C	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.305227	0.40795	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.83335	-1.71	5.22	1.14	0.20703	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.616114	0.15262	N	0.271754	T	0.73281	0.3567	L	0.38175	1.15	0.09310	N	1	P	0.46706	0.883	B	0.41666	0.363	T	0.63915	-0.6529	10	0.66056	D	0.02	-6.4662	7.2787	0.26300	0.3602:0.0:0.6398:0.0	.	83	Q9UNN8	EPCR_HUMAN	H	83	ENSP00000216968:Q83H	ENSP00000216968:Q83H	Q	+	3	2	PROCR	33226344	0.068000	0.21057	0.000000	0.03702	0.008000	0.06430	0.928000	0.28831	-0.008000	0.14320	0.556000	0.70494	CAG		0.682	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3				9	14	0	0	0	0.004482	0	9	14		
PROCR	10544	broad.mit.edu	37	20	33764071	33764071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33764071G>A	ENST00000216968.4	+	3	505	c.423G>A	c.(421-423)gtG>gtA	p.V141V	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	141					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTCCTTTGTGAGTTTCCGGC	0.602																																						uc002xbt.2		NaN																	0					0						c.(421-423)GTG>GTA		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						77.0	73.0	74.0					20																	33764071		2203	4300	6503	SO:0001819	synonymous_variant	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764071G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.423G>A	20.37:g.33764071G>A						EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.V178V	p.V141V	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	607	+			141			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	ENST00000216968.4	37	c.423G>A	CCDS13248.1																																																																																				0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3				39	120	0	0	0	0.00874	0	39	120		
UQCC1	55245	broad.mit.edu	37	20	33891806	33891806	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:33891806G>A	ENST00000374385.5	-	10	1009	c.832C>T	c.(832-834)Cta>Tta	p.L278L	UQCC1_ENST00000407996.2_Silent_p.L141L|UQCC1_ENST00000374380.2_Silent_p.L210L|UQCC1_ENST00000397556.3_Silent_p.L179L|UQCC1_ENST00000374377.5_Silent_p.L166L|UQCC1_ENST00000540457.1_Silent_p.L123L|UQCC1_ENST00000359226.2_Silent_p.L198L|UQCC1_ENST00000349714.5_Silent_p.L251L|UQCC1_ENST00000374384.2_Silent_p.L252L	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	278						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TTCTCCACTAGAGGGCGCCAG	0.607											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xcd.2		NaN																	0				breast(1)	1						c.(832-834)CTA>TTA		basic FGF-repressed Zic binding protein isoform							117.0	108.0	111.0					20																	33891806		2203	4300	6503	SO:0001819	synonymous_variant	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33891806G>A	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.832C>T	20.37:g.33891806G>A			OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	UQCC_uc010zuy.1_Silent_p.L179L|UQCC_uc010zuz.1_Silent_p.L123L|UQCC_uc010zva.1_Silent_p.L141L|UQCC_uc002xce.2_Silent_p.L251L|UQCC_uc002xcg.2_Silent_p.L144L|UQCC_uc010gfb.2_Silent_p.L252L|UQCC_uc010zvb.1_Silent_p.L210L|UQCC_uc002xcf.2_Silent_p.L166L|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.L91L	p.L278L	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		10	899	-			278					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Silent	SNP	ENST00000374385.5	37	c.832C>T	CCDS13252.1																																																																																				0.607	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1		NM_018244		43	96	0	0	0	0.00361	0	43	96		
CPNE1	8904	broad.mit.edu	37	20	34214245	34214245	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34214245G>A	ENST00000317619.3	-	18	1926	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	CPNE1_ENST00000397442.1_Missense_Mutation_p.S455L|CPNE1_ENST00000397445.1_Missense_Mutation_p.S511L|CPNE1_ENST00000317677.5_Missense_Mutation_p.S516L|CPNE1_ENST00000397443.1_Missense_Mutation_p.S511L|CPNE1_ENST00000397446.1_Missense_Mutation_p.S511L|CPNE1_ENST00000352393.4_Missense_Mutation_p.S511L			Q99829	CPNE1_HUMAN	copine I	511					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGAAGTATGAGACCAGTTG	0.622																																						uc002xdf.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1531-1533)TCA>TTA		copine I isoform a							95.0	109.0	104.0					20																	34214245		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34214245G>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1532C>T	20.37:g.34214245G>A	ENSP00000326126:p.Ser511Leu					CPNE1_uc002xdc.2_Missense_Mutation_p.S173L|CPNE1_uc010zvj.1_Missense_Mutation_p.S516L|CPNE1_uc002xde.2_Missense_Mutation_p.S487L|CPNE1_uc002xdg.2_Missense_Mutation_p.S455L|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S511L|CPNE1_uc002xdi.2_Missense_Mutation_p.S511L|CPNE1_uc002xdj.2_Missense_Mutation_p.S511L|CPNE1_uc002xdk.2_Missense_Mutation_p.S511L|CPNE1_uc002xdl.2_Missense_Mutation_p.S511L|CPNE1_uc002xdm.2_Missense_Mutation_p.S511L	p.S511L	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		18	1895	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		511					E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.1532C>T	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199518	0.79015	.	.	ENSG00000214078	ENST00000352393;ENST00000415920;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.06528	3.42;3.42;3.42;3.42;3.42;3.42;3.33;3.29	5.14	5.14	0.70334	.	0.145674	0.47455	U	0.000221	T	0.10895	0.0266	M	0.71206	2.165	0.50813	D	0.999898	B;P;B;B;B	0.39282	0.01;0.666;0.022;0.016;0.016	B;B;B;B;B	0.35039	0.013;0.194;0.02;0.008;0.009	T	0.02654	-1.1128	10	0.52906	T	0.07	-7.2302	17.5271	0.87803	0.0:0.0:1.0:0.0	.	516;455;511;491;510	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	L	511;151;516;511;511;511;511;455;510	ENSP00000336945:S511L;ENSP00000317257:S516L;ENSP00000326126:S511L;ENSP00000380588:S511L;ENSP00000380587:S511L;ENSP00000380585:S511L;ENSP00000380584:S455L;ENSP00000415597:S510L	ENSP00000326126:S511L	S	-	2	0	CPNE1	33677659	0.991000	0.36638	1.000000	0.80357	0.902000	0.53008	3.625000	0.54238	2.668000	0.90789	0.462000	0.41574	TCA		0.622	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930		43	141	0	0	0	0.002852	0	43	141		
EPB41L1	2036	broad.mit.edu	37	20	34776319	34776319	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:34776319C>T	ENST00000338074.2	+	9	1085	c.924C>T	c.(922-924)ctC>ctT	p.L308L	EPB41L1_ENST00000373946.3_Silent_p.L277L|EPB41L1_ENST00000373941.1_Silent_p.L308L|EPB41L1_ENST00000441639.1_Silent_p.L246L|EPB41L1_ENST00000373950.2_Silent_p.L211L|EPB41L1_ENST00000202028.5_Silent_p.L246L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	308	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATGGCCTGCTCATCTACCGGG	0.562																																						uc002xfb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(922-924)CTC>CTT		erythrocyte membrane protein band 4.1-like 1							134.0	122.0	126.0					20																	34776319		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34776319C>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.924C>T	20.37:g.34776319C>T						EPB41L1_uc002xeu.2_Silent_p.L246L|EPB41L1_uc010zvo.1_Silent_p.L308L|EPB41L1_uc002xev.2_Silent_p.L308L|EPB41L1_uc002xew.2_Silent_p.L211L|EPB41L1_uc002xex.2_Silent_p.L277L|EPB41L1_uc002xey.2_Silent_p.L235L|EPB41L1_uc002xez.2_Silent_p.L246L	p.L308L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			9	1095	+	Breast(12;0.0239)		308			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.924C>T	CCDS13271.1																																																																																				0.562	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156		27	100	0	0	0	0.005443	0	27	100		
CTNNBL1	56259	broad.mit.edu	37	20	36431360	36431360	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:36431360G>C	ENST00000361383.6	+	11	1240	c.1123G>C	c.(1123-1125)Gac>Cac	p.D375H	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D188H|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.D348H|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D123H|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	375					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAAGTTTGTTGACATTCTTGG	0.483																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1		NaN																	0				ovary(2)	2						c.(1123-1125)GAC>CAC		beta catenin-like 1							136.0	122.0	126.0					20																	36431360		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36431360G>C	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1123G>C	20.37:g.36431360G>C	ENSP00000355050:p.Asp375His					CTNNBL1_uc002xhh.2_Missense_Mutation_p.D188H|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.D123H	p.D375H	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			12	1214	+		Myeloproliferative disorder(115;0.00878)	375					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1123G>C	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675232	0.88445	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.54479	0.63;0.63;0.57;0.57	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.81614	2.55	0.80722	D	1	P;D	0.89917	0.752;1.0	P;D	0.74023	0.459;0.982	T	0.76814	-0.2820	10	0.56958	D	0.05	-29.1714	18.4237	0.90602	0.0:0.0:1.0:0.0	.	375;188	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	H	375;348;188;123	ENSP00000355050:D375H;ENSP00000384355:D348H;ENSP00000362572:D188H;ENSP00000362568:D123H	ENSP00000355050:D375H	D	+	1	0	CTNNBL1	35864774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.750000	0.98875	2.593000	0.87608	0.462000	0.41574	GAC		0.483	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1		NM_030877		25	81	0	0	0	0.003954	0	25	81		
DHX35	60625	broad.mit.edu	37	20	37662928	37662928	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662928G>C	ENST00000252011.3	+	21	2068	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	DHX35_ENST00000373323.4_Missense_Mutation_p.E648Q|DHX35_ENST00000373325.2_Missense_Mutation_p.E655Q	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	679					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCTGTTGGAGCTGGCTCC	0.448																																						uc002xjh.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(2035-2037)GAG>CAG		DEAH (Asp-Glu-Ala-His) box polypeptide 35							97.0	91.0	93.0					20																	37662928		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37662928G>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.2035G>C	20.37:g.37662928G>C	ENSP00000252011:p.Glu679Gln					DHX35_uc010zwa.1_Missense_Mutation_p.E524Q|DHX35_uc010zwb.1_Missense_Mutation_p.E524Q|DHX35_uc010zwc.1_Missense_Mutation_p.E648Q	p.E679Q	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			21	2046	+		Myeloproliferative disorder(115;0.00878)	679					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.2035G>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930855	0.92389	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.39056	3.82;4.03;3.95;1.1	5.64	5.64	0.86602	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	M	0.81497	2.545	0.80722	D	1	P;B	0.41848	0.763;0.243	P;B	0.46237	0.508;0.133	T	0.62329	-0.6877	10	0.87932	D	0	.	16.6294	0.85029	0.0:0.0:1.0:0.0	.	648;679	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	Q	655;679;648;159;143	ENSP00000362422:E655Q;ENSP00000252011:E679Q;ENSP00000362420:E648Q;ENSP00000397997:E143Q	ENSP00000252011:E679Q	E	+	1	0	DHX35	37096342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.227000	0.95236	2.664000	0.90586	0.650000	0.86243	GAG		0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931		33	78	0	0	0	0.005524	0	33	78		
DHX35	60625	broad.mit.edu	37	20	37662949	37662949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:37662949C>G	ENST00000252011.3	+	21	2089	c.2056C>G	c.(2056-2058)Caa>Gaa	p.Q686E	DHX35_ENST00000373323.4_Missense_Mutation_p.Q655E|DHX35_ENST00000373325.2_Missense_Mutation_p.Q662E	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	686					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ACACTTTTATCAACAAGGAAC	0.448																																						uc002xjh.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(2056-2058)CAA>GAA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							89.0	82.0	84.0					20																	37662949		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37662949C>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.2056C>G	20.37:g.37662949C>G	ENSP00000252011:p.Gln686Glu					DHX35_uc010zwa.1_Missense_Mutation_p.Q531E|DHX35_uc010zwb.1_Missense_Mutation_p.Q531E|DHX35_uc010zwc.1_Missense_Mutation_p.Q655E	p.Q686E	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			21	2067	+		Myeloproliferative disorder(115;0.00878)	686					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.2056C>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739556	0.30774	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.28895	4.18;4.26;4.18;1.59	5.64	5.64	0.86602	.	0.054583	0.64402	D	0.000001	T	0.22589	0.0545	N	0.13299	0.325	0.53005	D	0.999964	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.001	T	0.03922	-1.0992	10	0.72032	D	0.01	.	16.6294	0.85029	0.0:1.0:0.0:0.0	.	655;686	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	E	662;686;655;166;150	ENSP00000362422:Q662E;ENSP00000252011:Q686E;ENSP00000362420:Q655E;ENSP00000397997:Q150E	ENSP00000252011:Q686E	Q	+	1	0	DHX35	37096363	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.520000	0.67080	2.664000	0.90586	0.650000	0.86243	CAA		0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931		25	74	0	0	0	0.005443	0	25	74		
ZHX3	23051	broad.mit.edu	37	20	39832342	39832342	+	Silent	SNP	G	G	A	rs375328930		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:39832342G>A	ENST00000309060.3	-	4	1630	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.L405L|ZHX3_ENST00000544979.2_Silent_p.L405L|ZHX3_ENST00000540170.1_Silent_p.L405L|ZHX3_ENST00000432768.2_Silent_p.L405L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.L405L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	405	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGGCCTGGATGAGATGCTGGA	0.542																																						uc002xjs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1213-1215)CTC>CTT		zinc fingers and homeoboxes 3							94.0	87.0	90.0					20																	39832342		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832342G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1215C>T	20.37:g.39832342G>A						ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.L405L|ZHX3_uc002xjt.1_Silent_p.L405L|ZHX3_uc002xju.1_Silent_p.L405L|ZHX3_uc002xjv.1_Silent_p.L405L|ZHX3_uc002xjw.1_Silent_p.L405L|ZHX3_uc010ggg.1_Silent_p.L405L	p.L405L	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1593	-		Myeloproliferative disorder(115;0.00425)	405			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1215C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	5.265	0.234258	0.09969	.	.	ENSG00000174306	ENST00000421422	.	.	.	5.88	4.93	0.64822	.	.	.	.	.	T	0.60051	0.2239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58572	-0.7613	4	.	.	.	-24.0125	9.0803	0.36547	0.2663:0.0:0.7337:0.0	.	.	.	.	Y	114	.	.	H	-	1	0	ZHX3	39265756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.583000	0.23849	1.480000	0.48289	0.655000	0.94253	CAT		0.542	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035		24	100	0	0	0	0.003954	0	24	100		
OSER1	51526	broad.mit.edu	37	20	42825868	42825868	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:42825868C>G	ENST00000372970.2	-	6	883	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	OSER1_ENST00000255174.2_Missense_Mutation_p.E235Q			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	235					cellular response to hydrogen peroxide (GO:0070301)												GAGTAGTCCTCAAGTGTGGAT	0.522																																						uc002xlk.2		NaN																	0					0						c.(703-705)GAG>CAG		oxidative stress responsive 1							134.0	113.0	120.0					20																	42825868		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42825868C>G	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.703G>C	20.37:g.42825868C>G	ENSP00000362061:p.Glu235Gln						p.E235Q	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	840	-		Myeloproliferative disorder(115;0.028)	235					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.703G>C	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118086	0.56505	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.46819	0.86;0.86	6.17	6.17	0.99709	.	0.149414	0.64402	D	0.000015	T	0.32882	0.0844	N	0.17082	0.46	0.49798	D	0.999825	P	0.38020	0.615	B	0.33121	0.158	T	0.09930	-1.0652	10	0.33940	T	0.23	-17.0507	17.0531	0.86525	0.0:0.8734:0.1266:0.0	.	235	Q9NX31	CT111_HUMAN	Q	235	ENSP00000255174:E235Q;ENSP00000362061:E235Q	ENSP00000255174:E235Q	E	-	1	0	C20orf111	42259282	0.984000	0.35163	1.000000	0.80357	0.977000	0.68977	2.581000	0.46077	2.941000	0.99782	0.655000	0.94253	GAG		0.522	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2		NM_016470		10	60	0	0	0	0.006214	0	10	60		
MMP9	4318	broad.mit.edu	37	20	44642135	44642135	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:44642135C>A	ENST00000372330.3	+	9	1591	c.1572C>A	c.(1570-1572)atC>atA	p.I524I	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	524					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCGACGCCATCGCGGAGATTG	0.627											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1570-1572)ATC>ATA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						28.0	30.0	29.0					20																	44642135		2203	4299	6502	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642135C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1572C>A	20.37:g.44642135C>A			OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.I524I	NM_004994	NP_004985	P14780	MMP9_HUMAN			9	1591	+		Myeloproliferative disorder(115;0.0122)	524			Hemopexin-like 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1572C>A	CCDS13390.1																																																																																				0.627	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1				12	19	1	0	4.3838e-07	0.001855	5.30031e-07	12	19		
ZMYND8	23613	broad.mit.edu	37	20	45850058	45850058	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:45850058C>A	ENST00000311275.7	-	20	3517	c.3264G>T	c.(3262-3264)ggG>ggT	p.G1088G	ZMYND8_ENST00000372023.3_Silent_p.G1010G|ZMYND8_ENST00000262975.4_Silent_p.G1042G|ZMYND8_ENST00000461685.1_Silent_p.G1062G|ZMYND8_ENST00000446994.2_Silent_p.G979G|ZMYND8_ENST00000471951.2_Silent_p.G1108G|ZMYND8_ENST00000540497.1_Silent_p.G1036G|ZMYND8_ENST00000360911.3_Silent_p.G1037G|ZMYND8_ENST00000396281.4_Silent_p.G1088G|ZMYND8_ENST00000352431.2_Silent_p.G1062G|ZMYND8_ENST00000536340.1_Silent_p.G1115G|ZMYND8_ENST00000355972.4_Silent_p.G1088G|ZMYND8_ENST00000458360.2_Silent_p.G956G	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1088					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGAGGAGCTCCCCTGGGAGG	0.547																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3262-3264)GGG>GGT		zinc finger, MYND-type containing 8 isoform b							126.0	105.0	112.0					20																	45850058		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45850058C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3264G>T	20.37:g.45850058C>A						ZMYND8_uc010ghq.1_Silent_p.G719G|ZMYND8_uc010ghr.1_Silent_p.G990G|ZMYND8_uc002xst.1_Silent_p.G970G|ZMYND8_uc002xsu.1_Silent_p.G961G|ZMYND8_uc002xsv.1_Silent_p.G1016G|ZMYND8_uc002xsw.1_Silent_p.G794G|ZMYND8_uc002xsx.1_Silent_p.G794G|ZMYND8_uc002xsy.1_Silent_p.G1017G|ZMYND8_uc002xsz.1_Silent_p.G979G|ZMYND8_uc010zxy.1_Silent_p.G1115G|ZMYND8_uc002xtb.1_Silent_p.G1062G|ZMYND8_uc002xss.2_Silent_p.G1088G|ZMYND8_uc010zxz.1_Silent_p.G956G|ZMYND8_uc002xtc.1_Silent_p.G1062G|ZMYND8_uc002xtd.1_Silent_p.G1037G|ZMYND8_uc002xte.1_Silent_p.G1042G|ZMYND8_uc010zya.1_Silent_p.G1088G|ZMYND8_uc002xtf.1_Silent_p.G1108G|ZMYND8_uc002xsr.1_Silent_p.G187G	p.G1088G	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		20	3518	-			1088					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.3264G>T		.	.	.	.	.	.	.	.	.	.	C	6.626	0.483867	0.12581	.	.	ENSG00000101040	ENST00000467200	.	.	.	4.9	-9.8	0.00490	.	.	.	.	.	.	.	.	.	.	.	0.30894	N	0.730031	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7866	9.8353	0.40966	0.2172:0.0995:0.616:0.0673	.	.	.	.	X	970	.	.	E	-	1	0	ZMYND8	45283465	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.524000	0.06222	-1.858000	0.01158	-0.314000	0.08810	GAG		0.547	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		27	43	1	0	3.6726e-16	0.003954	4.62286e-16	27	43		
NFATC2	4773	broad.mit.edu	37	20	50140246	50140246	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:50140246G>T	ENST00000396009.3	-	2	753	c.534C>A	c.(532-534)ttC>ttA	p.F178L	NFATC2_ENST00000609943.1_Missense_Mutation_p.F158L|NFATC2_ENST00000414705.1_Missense_Mutation_p.F158L|NFATC2_ENST00000371564.3_Missense_Mutation_p.F178L|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	178	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTCAGAAATGAAGCTGGCAG	0.647																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(532-534)TTC>TTA		nuclear factor of activated T-cells,							25.0	32.0	29.0					20																	50140246		2201	4300	6501	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140246G>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.534C>A	20.37:g.50140246G>T	ENSP00000379330:p.Phe178Leu					NFATC2_uc002xwc.2_Missense_Mutation_p.F178L|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.F158L|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.F158L	p.F178L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	754	-	Hepatocellular(150;0.248)		178			Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.534C>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050165	0.75846	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.74002	-0.8;-0.8;-0.8	5.61	5.61	0.85477	.	0.106321	0.64402	D	0.000002	T	0.79028	0.4377	N	0.22421	0.69	0.39043	D	0.96016	P;D;D;D	0.58268	0.85;0.982;0.961;0.964	B;D;P;P	0.67548	0.345;0.952;0.628;0.633	T	0.80821	-0.1211	10	0.49607	T	0.09	-22.1216	19.6231	0.95667	0.0:0.0:1.0:0.0	.	158;158;178;178	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	178;178;158	ENSP00000360619:F178L;ENSP00000379330:F178L;ENSP00000396471:F158L	ENSP00000360619:F178L	F	-	3	2	NFATC2	49573653	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.977000	0.76141	2.643000	0.89663	0.462000	0.41574	TTC		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		18	57	1	0	6.94344e-10	0.006122	8.58245e-10	18	57		
C20orf85	128602	broad.mit.edu	37	20	56728648	56728648	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:56728648G>C	ENST00000371168.3	+	2	178	c.117G>C	c.(115-117)caG>caC	p.Q39H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	39										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			ACTGGCCCCAGAACTGGGGGT	0.433																																						uc002xyv.2		NaN																	0				ovary(1)	1						c.(115-117)CAG>CAC		hypothetical protein LOC128602							77.0	81.0	80.0					20																	56728648		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728648G>C	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.117G>C	20.37:g.56728648G>C	ENSP00000360210:p.Gln39His						p.Q39H	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	155	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		39						Missense_Mutation	SNP	ENST00000371168.3	37	c.117G>C	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346357	0.24426	.	.	ENSG00000124237	ENST00000371168	T	0.23348	1.91	5.82	2.6	0.31112	.	0.847209	0.10536	N	0.663287	T	0.15392	0.0371	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25187	-1.0139	10	0.31617	T	0.26	-8.8133	5.2337	0.15436	0.0759:0.3753:0.4128:0.136	.	39	Q9H1P6	CT085_HUMAN	H	39	ENSP00000360210:Q39H	ENSP00000360210:Q39H	Q	+	3	2	C20orf85	56162054	0.060000	0.20803	0.966000	0.40874	0.982000	0.71751	0.051000	0.14141	0.775000	0.33450	-0.182000	0.12963	CAG		0.433	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2		NM_178456		28	91	0	0	0	0.007291	0	28	91		
NPEPL1	79716	broad.mit.edu	37	20	57268911	57268911	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:57268911C>T	ENST00000356091.6	+	2	557	c.269C>T	c.(268-270)tCg>tTg	p.S90L	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S42L|NPEPL1_ENST00000525967.1_Missense_Mutation_p.S62L	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	90						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AACAGCCCCTCGGCCGCCCAC	0.682																																						uc010zzs.1		NaN																	0					0						c.(268-270)TCG>TTG		aminopeptidase-like 1							22.0	28.0	26.0					20																	57268911		2099	4203	6302	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57268911C>T	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.269C>T	20.37:g.57268911C>T	ENSP00000348395:p.Ser90Leu					NPEPL1_uc010zzr.1_Missense_Mutation_p.S42L|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.S62L|NPEPL1_uc002xzp.2_5'UTR	p.S90L	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		2	364	+	all_lung(29;0.0175)		90					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.269C>T	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479468	0.63849	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.31510	1.49;1.5;1.49	4.97	4.97	0.65823	.	0.055781	0.85682	D	0.000000	T	0.43567	0.1253	M	0.72894	2.215	0.80722	D	1	B;B;P	0.49783	0.392;0.28;0.928	B;B;P	0.48738	0.105;0.052;0.588	T	0.36696	-0.9737	10	0.34782	T	0.22	-17.0741	17.2194	0.86953	0.0:1.0:0.0:0.0	.	90;42;62	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	L	62;42;90	ENSP00000434810:S62L;ENSP00000437112:S42L;ENSP00000348395:S90L	ENSP00000348395:S90L	S	+	2	0	NPEPL1	56702318	1.000000	0.71417	0.972000	0.41901	0.537000	0.34900	5.712000	0.68407	2.304000	0.77564	0.505000	0.49811	TCG		0.682	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6		NM_024663		10	47	0	0	0	0.008291	0	10	47		
DIDO1	11083	broad.mit.edu	37	20	61526493	61526493	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:61526493C>G	ENST00000266070.4	-	9	2564	c.2239G>C	c.(2239-2241)Gag>Cag	p.E747Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E747Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.E747Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.E747Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	747	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGATTTCCTCACGCAGAACA	0.413																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(2239-2241)GAG>CAG		death inducer-obliterator 1 isoform c							157.0	169.0	165.0					20																	61526493		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61526493C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2239G>C	20.37:g.61526493C>G	ENSP00000266070:p.Glu747Gln					DIDO1_uc002yds.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydt.1_Missense_Mutation_p.E747Q|DIDO1_uc002ydu.1_Missense_Mutation_p.E747Q	p.E747Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			9	2503	-	Breast(26;5.68e-08)		747			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2239G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322703	0.41096	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.52	5.52	0.82312	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.43747	D	0.000526	T	0.53578	0.1805	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.68483	0.835;0.958	T	0.49031	-0.8981	10	0.37606	T	0.19	-34.8956	19.4239	0.94734	0.0:1.0:0.0:0.0	.	747;747	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Q	747	ENSP00000266070:E747Q;ENSP00000378752:E747Q;ENSP00000378749:E747Q;ENSP00000378744:E747Q	ENSP00000266070:E747Q	E	-	1	0	DIDO1	60996938	1.000000	0.71417	0.968000	0.41197	0.022000	0.10575	5.838000	0.69388	2.599000	0.87857	0.561000	0.74099	GAG		0.413	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		66	191	0	0	0	0.00361	0	66	191		
HELZ2	85441	broad.mit.edu	37	20	62198551	62198551	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198551G>C	ENST00000467148.1	-	6	2229	c.2160C>G	c.(2158-2160)ctC>ctG	p.L720L	HELZ2_ENST00000427522.2_Silent_p.L151L|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	720	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGCACAGGAAGAGGCGGTGCA	0.677																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(2158-2160)CTC>CTG		PPAR-alpha interacting complex protein 285							28.0	32.0	31.0					20																	62198551		2197	4295	6492	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198551G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2160C>G	20.37:g.62198551G>C						PRIC285_uc002yfl.1_Silent_p.L151L	p.L720L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3052	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		720					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2160C>G	CCDS33508.1																																																																																				0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		12	49	0	0	0	0.001368	0	12	49		
HELZ2	85441	broad.mit.edu	37	20	62198716	62198716	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198716G>C	ENST00000467148.1	-	6	2064	c.1995C>G	c.(1993-1995)ctC>ctG	p.L665L	HELZ2_ENST00000427522.2_Silent_p.L96L|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	665	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCATCGATGAGAATGTGGG	0.706																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(1993-1995)CTC>CTG		PPAR-alpha interacting complex protein 285							14.0	17.0	16.0					20																	62198716		2157	4260	6417	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198716G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1995C>G	20.37:g.62198716G>C						PRIC285_uc002yfl.1_Silent_p.L96L	p.L665L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	2887	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		665					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.1995C>G	CCDS33508.1																																																																																				0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		3	7	0	0	0	0.004672	0	3	7		
HELZ2	85441	broad.mit.edu	37	20	62198913	62198913	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62198913G>C	ENST00000467148.1	-	6	1867	c.1798C>G	c.(1798-1800)Cct>Gct	p.P600A	HELZ2_ENST00000427522.2_Missense_Mutation_p.P31A|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	600	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACACGGAGAGGAGTGGCCTCG	0.667																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(1798-1800)CCT>GCT		PPAR-alpha interacting complex protein 285							15.0	13.0	14.0					20																	62198913		2155	4254	6409	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198913G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1798C>G	20.37:g.62198913G>C	ENSP00000417401:p.Pro600Ala					PRIC285_uc002yfl.1_Missense_Mutation_p.P31A	p.P600A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	2690	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		600					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1798C>G	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063678	0.36373	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;D	0.82167	-1.42;-1.58	4.49	3.53	0.40419	ATPase, AAA+ type, core (1);	0.413422	0.24764	N	0.035783	D	0.87924	0.6300	M	0.69358	2.11	0.30077	N	0.809497	D;D	0.61697	0.979;0.99	P;P	0.62813	0.907;0.893	D	0.84585	0.0663	10	0.48119	T	0.1	-25.1307	12.2425	0.54551	0.0841:0.0:0.9159:0.0	.	600;31	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	A	31;600	ENSP00000393257:P31A;ENSP00000417401:P600A	ENSP00000393257:P31A	P	-	1	0	RP4-697K14.7	61669357	1.000000	0.71417	0.014000	0.15608	0.064000	0.16182	8.636000	0.91010	0.884000	0.36064	0.491000	0.48974	CCT		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		4	8	0	0	0	0.000602	0	4	8		
TNFRSF6B	8771	broad.mit.edu	37	20	62329778	62329778	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62329778G>A	ENST00000369996.1	+	3	865	c.765G>A	c.(763-765)ctG>ctA	p.L255L	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	255					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCTTGCAGCTGAAGCTGCGTC	0.746																																						uc002yfy.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(763-765)CTG>CTA		tumor necrosis factor receptor superfamily,							5.0	7.0	6.0					20																	62329778		1888	3791	5679	SO:0001819	synonymous_variant	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329778G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.765G>A	20.37:g.62329778G>A						RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.L255L	p.L255L	NM_032945	NP_116563	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		7	1199	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		255						Silent	SNP	ENST00000369996.1	37	c.765G>A	CCDS13532.1																																																																																				0.746	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1				9	14	0	0	0	0.006214	0	9	14		
ARFRP1	10139	broad.mit.edu	37	20	62331869	62331869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr20:62331869C>T	ENST00000359715.5	-	7	1098	c.532G>A	c.(532-534)Gag>Aag	p.E178K	ARFRP1_ENST00000607873.1_Missense_Mutation_p.E131K|ARFRP1_ENST00000324228.2_Missense_Mutation_p.E178K|ARFRP1_ENST00000609142.1_3'UTR|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	178					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TCGATGCCCTCGCGCACCCCT	0.701																																						uc002yga.2		NaN																	0				breast(1)|skin(1)	2						c.(532-534)GAG>AAG		ADP-ribosylation factor related protein 1							48.0	46.0	47.0					20																	62331869		2202	4294	6496	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62331869C>T	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.532G>A	20.37:g.62331869C>T	ENSP00000352746:p.Glu178Lys					ARFRP1_uc002ygc.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.E178K|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	p.E178K	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		7	1099	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		178					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.532G>A	CCDS13533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.615775|5.615775	0.96649|0.96649	.|.	.|.	ENSG00000101246|ENSG00000101246	ENST00000359715;ENST00000324228|ENST00000217224	T;T|D	0.68331|0.81908	-0.32;-0.32|-1.55	5.3|5.3	5.3|5.3	0.74995|0.74995	Small GTP-binding protein domain (1);|.	0.102120|.	0.64402|.	D|.	0.000004|.	D|D	0.90844|0.90844	0.7124|0.7124	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	P|.	0.49185|.	0.92|.	B|.	0.43413|.	0.419|.	D|D	0.89163|0.89163	0.3531|0.3531	10|7	0.87932|0.24483	D|T	0|0.36	-8.5006|-8.5006	18.5635|18.5635	0.91110|0.91110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	178|.	Q13795|.	ARFRP_HUMAN|.	K|Q	178|105	ENSP00000352746:E178K;ENSP00000326884:E178K|ENSP00000217224:R105Q	ENSP00000326884:E178K|ENSP00000217224:R105Q	E|R	-|-	1|2	0|0	ARFRP1|ARFRP1	61802313|61802313	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.863000|0.863000	0.49368|0.49368	7.045000|7.045000	0.76585|0.76585	2.480000|2.480000	0.83734|0.83734	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.701	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1				18	55	0	0	0	0.006122	0	18	55		
NCAM2	4685	broad.mit.edu	37	21	22658708	22658708	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:22658708G>A	ENST00000400546.1	+	4	706	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NCAM2_ENST00000535285.1_Missense_Mutation_p.E178K|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTATCATAATGAGGAAGTCAC	0.388																																						uc002yld.1		NaN																	0				ovary(4)	4						c.(457-459)GAG>AAG		neural cell adhesion molecule 2 precursor							126.0	119.0	121.0					21																	22658708		2006	4175	6181	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658708G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.457G>A	21.37:g.22658708G>A	ENSP00000383392:p.Glu153Lys					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.E178K	p.E153K	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	706	+		Lung NSC(9;0.195)	153			Ig-like C2-type 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.457G>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159394	0.38119	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.66638	-0.22;-0.22	5.05	3.11	0.35812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.320703	0.38381	N	0.001702	T	0.45935	0.1367	N	0.14661	0.345	0.44652	D	0.997637	B;B	0.14805	0.011;0.001	B;B	0.13407	0.009;0.001	T	0.35201	-0.9798	10	0.39692	T	0.17	-4.2414	8.8623	0.35265	0.0845:0.1508:0.7648:0.0	.	178;153	B7Z841;O15394	.;NCAM2_HUMAN	K	153;178	ENSP00000383392:E153K;ENSP00000441887:E178K	ENSP00000383392:E153K	E	+	1	0	NCAM2	21580579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.701000	0.47094	1.118000	0.41863	0.555000	0.69702	GAG		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1		NM_004540		9	63	0	0	0	0.000978	0	9	63		
GRIK1	2897	broad.mit.edu	37	21	30927614	30927614	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:30927614T>C	ENST00000399907.1	-	16	2777	c.2366A>G	c.(2365-2367)tAc>tGc	p.Y789C	GRIK1_ENST00000399909.1_Missense_Mutation_p.Y774C|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y789C|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y789C|GRIK1_ENST00000399914.1_Missense_Mutation_p.Y774C|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y791C|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y789C|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y791C|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y774C	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	789					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTTATCCCGGTAAGGAGAACC	0.403																																						uc002yno.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2365-2367)TAC>TGC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						73.0	76.0	75.0					21																	30927614		2203	4299	6502	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927614T>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2366A>G	21.37:g.30927614T>C	ENSP00000382791:p.Tyr789Cys					GRIK1_uc002ynn.2_Missense_Mutation_p.Y774C|GRIK1_uc011acs.1_Missense_Mutation_p.Y789C|GRIK1_uc011act.1_Missense_Mutation_p.Y650C	p.Y789C	NM_000830	NP_000821	P39086	GRIK1_HUMAN			16	2830	-			789			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2366A>G	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.736962	0.69304	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	4.78	4.78	0.61160	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.70016	0.967;0.947;0.967;0.911	T	0.59679	-0.7409	10	0.87932	D	0	.	14.4167	0.67155	0.0:0.0:0.0:1.0	.	774;789;789;774	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	C	789;774;789;774;791;650;789;789;774;791	ENSP00000327687:Y789C;ENSP00000373777:Y774C;ENSP00000382797:Y789C;ENSP00000382798:Y774C;ENSP00000446326:Y791C;ENSP00000373776:Y789C;ENSP00000382791:Y789C;ENSP00000382793:Y774C;ENSP00000311646:Y791C	ENSP00000311646:Y791C	Y	-	2	0	GRIK1	29849485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.012000	0.70767	2.124000	0.65301	0.528000	0.53228	TAC		0.403	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				18	93	0	0	0	0.006122	0	18	93		
TCP10L	140290	broad.mit.edu	37	21	33956596	33956596	+	Missense_Mutation	SNP	C	C	G	rs569716694		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:33956596C>G	ENST00000300258.3	-	2	132	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	TCP10L_ENST00000472557.1_Intron|AP000275.65_ENST00000553001.1_Intron	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	7					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCCTGGCCTCGAGTTGACCT	0.647																																						uc002ypw.3		NaN																	0					0						c.(19-21)GAG>CAG		T-complex 10A-2							44.0	40.0	41.0					21																	33956596		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33956596C>G	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.19G>C	21.37:g.33956596C>G	ENSP00000300258:p.Glu7Gln					C21orf59_uc002ypx.1_Intron|C21orf59_uc002ypy.1_Intron|C21orf59_uc002ypz.1_Intron	p.E7Q	NM_144659	NP_653260	Q9NV44	CU077_HUMAN			2	135	-			Error:Variant_position_missing_in_Q9NV44_after_alignment					Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.19G>C	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	C	5.819	0.335417	0.11013	.	.	ENSG00000242220	ENST00000300258	T	0.30448	1.53	0.468	-0.936	0.10419	.	.	.	.	.	T	0.24160	0.0585	L	0.51422	1.61	0.09310	N	1	P	0.45827	0.867	B	0.42692	0.395	T	0.10894	-1.0610	8	0.52906	T	0.07	.	.	.	.	.	7	Q8TDR4	TCP1L_HUMAN	Q	7	ENSP00000300258:E7Q	ENSP00000300258:E7Q	E	-	1	0	TCP10L	32878467	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	-0.905000	0.04075	-1.309000	0.02315	-1.021000	0.02439	GAG		0.647	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1		NM_144659		14	36	0	0	0	0.00245	0	14	36		
ITSN1	6453	broad.mit.edu	37	21	35183344	35183344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:35183344G>A	ENST00000381318.3	+	21	2673	c.2385G>A	c.(2383-2385)tgG>tgA	p.W795*	ITSN1_ENST00000437442.2_Nonsense_Mutation_p.W790*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.W753*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.W795*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.W790*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.W790*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.W795*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.W795*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	795	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGACAGGGTGGTTCCCTGCAA	0.483																																						uc002yta.1		NaN																	0				ovary(3)|skin(1)	4						c.(2383-2385)TGG>TGA		intersectin 1 isoform ITSN-l							88.0	98.0	95.0					21																	35183344		2203	4300	6503	SO:0001587	stop_gained	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183344G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2385G>A	21.37:g.35183344G>A	ENSP00000370719:p.Trp795*					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmg.2_Nonsense_Mutation_p.W753*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Nonsense_Mutation_p.W795*|ITSN1_uc010gmi.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gmj.2_Nonsense_Mutation_p.W674*|ITSN1_uc002ysy.2_Nonsense_Mutation_p.W790*|ITSN1_uc002ysx.2_Nonsense_Mutation_p.W753*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytc.1_Nonsense_Mutation_p.W790*|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Nonsense_Mutation_p.W758*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Nonsense_Mutation_p.W790*|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Nonsense_Mutation_p.W729*|ITSN1_uc002ytf.1_RNA	p.W795*	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			21	2653	+			795			SH3 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	c.2385G>A	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.744020|10.744020	0.99460|0.99460	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000440794|ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.49660|.	0.1570|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38520|.	-0.9657|.	3|.	.|0.02654	.|T	.|1	.|.	20.2723|20.2723	0.98479|0.98479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	30|753;795;795;795;795;790;790;790;795;790;790;790;790;790	.|.	.|ENSP00000369294:W790X	V|W	+|+	1|3	0|0	ITSN1|ITSN1	34105214|34105214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.441000|9.441000	0.97557|0.97557	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GTT|TGG		0.483	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		21	150	0	0	0	0.008871	0	21	150		
CLDN14	23562	broad.mit.edu	37	21	37833718	37833718	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:37833718G>A	ENST00000399137.1	-	3	1142	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AP000695.4_ENST00000454980.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Silent_p.G92G|CLDN14_ENST00000399135.1_Silent_p.G92G|CLDN14_ENST00000399136.1_Silent_p.G92G|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Silent_p.G92G	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	92					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CGCAGGCTATGCCCGAGAGCA	0.662																																						uc002yvk.1		NaN																	0					0						c.(274-276)GGC>GGT		claudin 14							51.0	46.0	47.0					21																	37833718		2203	4300	6503	SO:0001819	synonymous_variant	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833718G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.276C>T	21.37:g.37833718G>A						CLDN14_uc002yvn.1_Silent_p.G92G|CLDN14_uc002yvo.1_Silent_p.G92G|CLDN14_uc002yvl.1_Silent_p.G92G|CLDN14_uc002yvm.1_Silent_p.G92G	p.G92G	NM_012130	NP_036262	O95500	CLD14_HUMAN			2	418	-			92			Helical; (Potential).			Silent	SNP	ENST00000399137.1	37	c.276C>T	CCDS13645.1																																																																																				0.662	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1		NM_144492		26	36	0	0	0	0.004656	0	26	36		
RIPK4	54101	broad.mit.edu	37	21	43171292	43171292	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:43171292C>G	ENST00000352483.2	-	3	652	c.588G>C	c.(586-588)aaG>aaC	p.K196N	RIPK4_ENST00000544709.1_Missense_Mutation_p.K133N|RIPK4_ENST00000332512.3_Missense_Mutation_p.K196N|RIPK4_ENST00000542057.1_Missense_Mutation_p.K133N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGCCGGCTCTTCTCCCTGA	0.602																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(586-588)AAG>AAC		ankyrin repeat domain 3							120.0	101.0	107.0					21																	43171292		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171292C>G	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.588G>C	21.37:g.43171292C>G	ENSP00000330161:p.Lys196Asn						p.K196N	NM_020639	NP_065690	P57078	RIPK4_HUMAN			3	636	-			196					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.588G>C		.	.	.	.	.	.	.	.	.	.	C	15.98	2.991530	0.54041	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.59	3.7	0.42460	.	0.000000	0.64402	D	0.000013	T	0.66147	0.2760	N	0.17631	0.505	0.49389	D	0.999785	D	0.89917	1.0	D	0.83275	0.996	T	0.61758	-0.6997	10	0.27785	T	0.31	-40.3464	9.7145	0.40265	0.0:0.8253:0.0:0.1747	.	196	P57078-2	.	N	196;196;133;133	ENSP00000332454:K196N;ENSP00000330161:K196N;ENSP00000441754:K133N;ENSP00000442901:K133N	ENSP00000332454:K196N	K	-	3	2	RIPK4	42044361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.542000	0.36137	0.914000	0.36822	0.561000	0.74099	AAG		0.602	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		7	79	0	0	0	0.001984	0	7	79		
TRPM2	7226	broad.mit.edu	37	21	45838307	45838307	+	Splice_Site	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr21:45838307G>C	ENST00000397928.1	+	22	3775	c.3330G>C	c.(3328-3330)aaG>aaC	p.K1110N	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Splice_Site_p.K1110N|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Splice_Site_p.K1110N|TRPM2_ENST00000300481.9_Splice_Site_p.K1090N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1110					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTGACAGAGAACAAGCTGG	0.642																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3328-3330)AAG>AAC		transient receptor potential cation channel,							83.0	78.0	80.0					21																	45838307		2203	4300	6503	SO:0001630	splice_region_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45838307G>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3329-1G>C	21.37:g.45838307G>C						TRPM2_uc002zeu.1_Missense_Mutation_p.K1110N|TRPM2_uc002zew.1_Missense_Mutation_p.K1110N|TRPM2_uc010gpt.1_Missense_Mutation_p.K1110N|TRPM2_uc002zex.1_Missense_Mutation_p.K896N|TRPM2_uc002zey.1_Missense_Mutation_p.K623N|uc011afe.1_Intron	p.K1110N	NM_003307	NP_003298	O94759	TRPM2_HUMAN			23	3543	+			1110			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3330G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064098	0.55432	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.87	2.85	0.33270	.	0.329934	0.27696	N	0.018222	T	0.35770	0.0943	M	0.77103	2.36	0.40401	D	0.979643	D;D;D	0.59357	0.968;0.985;0.968	B;P;B	0.45881	0.411;0.496;0.411	T	0.32745	-0.9895	10	0.56958	D	0.05	.	7.312	0.26479	0.4623:0.0:0.5377:0.0	.	1110;896;1110	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	N	1110;1110;1090;1110	ENSP00000300482:K1110N;ENSP00000381023:K1110N;ENSP00000300481:K1090N;ENSP00000381026:K1110N	ENSP00000300481:K1090N	K	+	3	2	TRPM2	44662735	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	2.144000	0.42197	1.096000	0.41439	0.563000	0.77884	AAG		0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307	Missense_Mutation	7	57	0	0	0	0.00308	0	7	57		
CECR5	27440	broad.mit.edu	37	22	17624010	17624010	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:17624010C>T	ENST00000336737.4	-	5	574	c.549G>A	c.(547-549)agG>agA	p.R183R	CECR5_ENST00000399852.3_Silent_p.R46R|CECR5_ENST00000155674.5_Silent_p.R153R	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	183						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGAAGTCATTCCTCGGGAGGG	0.567																																						uc002zmf.2		NaN																	0					0						c.(547-549)AGG>AGA		cat eye syndrome chromosome region, candidate 5							89.0	79.0	83.0					22																	17624010		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17624010C>T	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.549G>A	22.37:g.17624010C>T						CECR5_uc002zmd.2_5'Flank|CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Silent_p.R46R|CECR5_uc002zmh.2_Silent_p.R153R	p.R183R	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			5	577	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	183					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.549G>A	CCDS33595.1																																																																																				0.567	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1		NM_017829		16	52	0	0	0	0.004007	0	16	52		
CDC45	8318	broad.mit.edu	37	22	19495340	19495340	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:19495340G>C	ENST00000407835.1	+	13	1264	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	CDC45_ENST00000437685.2_Missense_Mutation_p.L368F|CDC45_ENST00000404724.3_Missense_Mutation_p.L290F|CDC45_ENST00000263201.1_Missense_Mutation_p.L336F			O75419	CDC45_HUMAN	cell division cycle 45	336					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACATCTCCTTGAAGGAGAATT	0.443																																						uc002zpr.2		NaN																	0				lung(1)	1						c.(1006-1008)TTG>TTC		CDC45-like							102.0	101.0	102.0					22																	19495340		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19495340G>C	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1008G>C	22.37:g.19495340G>C	ENSP00000385240:p.Leu336Phe					CDC45_uc011agz.1_Missense_Mutation_p.L331F|CDC45_uc011aha.1_Missense_Mutation_p.L368F|CDC45_uc002zps.2_Missense_Mutation_p.L336F|CDC45_uc002zpt.2_Missense_Mutation_p.L290F	p.L336F	NM_003504	NP_003495	O75419	CDC45_HUMAN			12	1084	+			336					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.1008G>C	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208443	0.58343	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.26	3.19	0.36642	.	0.068056	0.64402	D	0.000007	T	0.38665	0.1049	L	0.56280	1.765	0.52501	D	0.999957	P;P;P;P;P	0.48911	0.917;0.482;0.503;0.917;0.917	P;P;B;P;P	0.53689	0.732;0.461;0.323;0.732;0.732	T	0.10543	-1.0625	10	0.48119	T	0.1	-18.726	9.1198	0.36780	0.2214:0.0:0.7786:0.0	.	368;331;290;368;336	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	F	336;368;336;290	ENSP00000385240:L336F;ENSP00000405726:L368F;ENSP00000263201:L336F;ENSP00000384978:L290F	ENSP00000263201:L336F	L	+	3	2	CDC45	17875340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.335000	0.33839	0.800000	0.34041	0.561000	0.74099	TTG		0.443	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1		NM_003504		50	95	0	0	0	0.00361	0	50	95		
RTN4R	65078	broad.mit.edu	37	22	20229926	20229926	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:20229926C>T	ENST00000043402.7	-	2	1168	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	244					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCAGGGCCTCAGTGGGCAGC	0.642																																						uc002zrv.2		NaN																	0					0						c.(730-732)GAG>AAG		reticulon 4 receptor precursor							41.0	42.0	41.0					22																	20229926		2203	4300	6503	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229926C>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.730G>A	22.37:g.20229926C>T	ENSP00000043402:p.Glu244Lys					RTN4R_uc002zru.2_Missense_Mutation_p.E16K	p.E244K	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN			2	931	-	Colorectal(54;0.0993)		244			LRR 8.		D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.730G>A	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508589	0.44660	.	.	ENSG00000040608	ENST00000043402	T	0.02498	4.27	4.39	4.39	0.52855	.	0.000000	0.36234	N	0.002705	T	0.04092	0.0114	N	0.25380	0.74	0.53688	D	0.999978	B	0.33841	0.428	B	0.40329	0.326	T	0.53394	-0.8445	10	0.66056	D	0.02	.	14.4963	0.67691	0.0:1.0:0.0:0.0	.	244	Q9BZR6	RTN4R_HUMAN	K	244	ENSP00000043402:E244K	ENSP00000043402:E244K	E	-	1	0	RTN4R	18609926	0.983000	0.35010	0.927000	0.36925	0.027000	0.11550	4.606000	0.61126	2.286000	0.76751	0.561000	0.74099	GAG		0.642	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2				19	32	0	0	0	0.008871	0	19	32		
SERPIND1	3053	broad.mit.edu	37	22	21138315	21138315	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:21138315G>A	ENST00000215727.5	+	3	1228	c.945G>A	c.(943-945)ctG>ctA	p.L315L	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L315L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	315					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACTTCCGGCTGAATGAGAGAG	0.493											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ztb.1		NaN																	0					0						c.(943-945)CTG>CTA		heparin cofactor II precursor	Ardeparin(DB00407)						172.0	159.0	163.0					22																	21138315		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138315G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.945G>A	22.37:g.21138315G>A			OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L343L	p.L315L	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1012	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	315					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.945G>A	CCDS13783.1																																																																																				0.493	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		86	184	0	0	0	0.00361	0	86	184		
MTMR3	8897	broad.mit.edu	37	22	30394779	30394779	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:30394779G>C	ENST00000401950.2	+	8	832	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MTMR3_ENST00000323630.5_Missense_Mutation_p.E28Q|MTMR3_ENST00000333027.3_Missense_Mutation_p.E164Q|MTMR3_ENST00000406629.1_Missense_Mutation_p.E164Q|MTMR3_ENST00000351488.3_Missense_Mutation_p.E164Q	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	164	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTAAAAACGAGGTGGAGAG	0.408																																						uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(490-492)GAG>CAG		myotubularin-related protein 3 isoform c							111.0	100.0	104.0					22																	30394779		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30394779G>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.490G>C	22.37:g.30394779G>C	ENSP00000384651:p.Glu164Gln					MTMR3_uc003agu.3_Missense_Mutation_p.E164Q|MTMR3_uc003agw.3_Missense_Mutation_p.E164Q	p.E164Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		8	818	+			164			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.490G>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129723	0.94473	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	5.75	5.75	0.90469	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.99461	1.0943	10	0.87932	D	0	.	18.933	0.92574	0.0:0.0:1.0:0.0	.	164;164;164	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	Q	164;164;28;164;164	ENSP00000384651:E164Q;ENSP00000331649:E164Q;ENSP00000318070:E28Q;ENSP00000307271:E164Q;ENSP00000384077:E164Q	ENSP00000318070:E28Q	E	+	1	0	MTMR3	28724779	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	9.476000	0.97823	2.696000	0.92011	0.655000	0.94253	GAG		0.408	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		6	21	0	0	0	0.001168	0	6	21		
TCN2	6948	broad.mit.edu	37	22	31011378	31011378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:31011378G>C	ENST00000215838.3	+	5	1165	c.671G>C	c.(670-672)aGa>aCa	p.R224T	TCN2_ENST00000407817.3_Missense_Mutation_p.R197T|TCN2_ENST00000405742.3_Missense_Mutation_p.R220T			P20062	TCO2_HUMAN	transcobalamin II	224					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCCATCAGAACAGTGCGA	0.562																																						uc003aip.1		NaN																	0				central_nervous_system(1)	1						c.(670-672)AGA>ACA		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						90.0	79.0	83.0					22																	31011378		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011378G>C		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.671G>C	22.37:g.31011378G>C	ENSP00000215838:p.Arg224Thr					TCN2_uc003aiq.1_Missense_Mutation_p.R220T|TCN2_uc003air.1_Missense_Mutation_p.R197T	p.R224T	NM_000355	NP_000346	P20062	TCO2_HUMAN			5	829	+			224					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.671G>C	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	7.154	0.584333	0.13749	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.34667	1.35;1.35;1.35	5.82	-7.9	0.01169	.	1.633630	0.02625	N	0.103716	T	0.30572	0.0769	L	0.54323	1.7	0.09310	N	1	B;B;B	0.18013	0.014;0.025;0.007	B;B;B	0.20767	0.012;0.031;0.007	T	0.13629	-1.0502	10	0.17369	T	0.5	1.2932	11.0618	0.47953	0.6504:0.0936:0.256:0.0	.	197;220;224	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	T	224;220;197	ENSP00000215838:R224T;ENSP00000385914:R220T;ENSP00000384914:R197T	ENSP00000215838:R224T	R	+	2	0	TCN2	29341378	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	-1.682000	0.01446	-1.134000	0.01955	AGA		0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2		NM_000355		34	78	0	0	0	0.003271	0	34	78		
DEPDC5	9681	broad.mit.edu	37	22	32188758	32188758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32188758C>G	ENST00000382112.3	+	11	792	c.722C>G	c.(721-723)tCa>tGa	p.S241*	DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.S241*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.S213*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	241					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACCGAGCCTCAATTCGACAG	0.363																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(721-723)TCA>TGA		DEP domain containing 5 isoform 1							127.0	120.0	122.0					22																	32188758		1805	4082	5887	SO:0001587	stop_gained	9681				intracellular signal transduction			g.chr22:32188758C>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.722C>G	22.37:g.32188758C>G	ENSP00000371546:p.Ser241*					DEPDC5_uc011als.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.S241*|DEPDC5_uc003alr.1_Nonsense_Mutation_p.S241*|DEPDC5_uc011alt.1_Nonsense_Mutation_p.S213*	p.S241*	NM_014662	NP_055477	O75140	DEPD5_HUMAN			12	864	+			241					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	c.722C>G	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	39	7.582066	0.98371	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.29	5.29	0.74685	.	0.064072	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.9795	0.89137	0.0:1.0:0.0:0.0	.	.	.	.	X	241;213;241;241;241;241;241;241;241;241;241	.	ENSP00000266091:S241X	S	+	2	0	DEPDC5	30518758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.585000	0.67497	2.493000	0.84123	0.567000	0.79289	TCA		0.363	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		24	63	0	0	0	0.005443	0	24	63		
SLC5A4	6527	broad.mit.edu	37	22	32627028	32627028	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:32627028C>G	ENST00000266086.4	-	10	1067	c.1056G>C	c.(1054-1056)gtG>gtC	p.V352V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	352					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACAGTGTTTCACGCATTCAG	0.493																																						uc003ami.2		NaN																	0					0						c.(1054-1056)GTG>GTC		solute carrier family 5 (low affinity glucose							137.0	100.0	113.0					22																	32627028		2203	4300	6503	SO:0001819	synonymous_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32627028C>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1056G>C	22.37:g.32627028C>G							p.V352V	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			10	1058	-			352			Extracellular (Potential).		O15279	Silent	SNP	ENST00000266086.4	37	c.1056G>C	CCDS13903.1																																																																																				0.493	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1		NM_014227		13	46	0	0	0	0.00499	0	13	46		
MYH9	4627	broad.mit.edu	37	22	36745254	36745254	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:36745254G>C	ENST00000216181.5	-	2	258	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	MYH9_ENST00000401701.1_Missense_Mutation_p.L10V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	10					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCACATAGAGATACTTATCG	0.517			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(28-30)CTC>GTC		myosin, heavy polypeptide 9, non-muscle							56.0	56.0	56.0					22																	36745254		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36745254G>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.28C>G	22.37:g.36745254G>C	ENSP00000216181:p.Leu10Val					MYH9_uc003api.1_Missense_Mutation_p.L10V	p.L10V	NM_002473	NP_002464	P35579	MYH9_HUMAN			2	259	-			10			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.28C>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658645	0.88154	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	D;D;D	0.89123	-2.47;-1.53;-1.54	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	L	0.38175	1.15	0.80722	D	1	D;P	0.71674	0.998;0.625	D;B	0.80764	0.994;0.258	D	0.92997	0.6420	10	0.87932	D	0	.	18.9944	0.92806	0.0:0.0:1.0:0.0	.	10;10	Q5BKV1;P35579	.;MYH9_HUMAN	V	10	ENSP00000216181:L10V;ENSP00000384631:L10V;ENSP00000414852:L10V	ENSP00000216181:L10V	L	-	1	0	MYH9	35075200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.491000	0.84063	0.563000	0.77884	CTC		0.517	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		13	42	0	0	0	0.001855	0	13	42		
CARD10	29775	broad.mit.edu	37	22	37902202	37902202	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:37902202G>C	ENST00000403299.1	-	8	1596	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	CARD10_ENST00000406271.3_Silent_p.L174L|CARD10_ENST00000251973.5_Silent_p.L460L|CARD10_ENST00000494166.1_5'Flank			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	460					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGCTCACCTTGAGGCAGGTGC	0.672																																						uc003asx.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(1378-1380)CTC>CTG		caspase recruitment domain protein 10							31.0	30.0	31.0					22																	37902202		2203	4298	6501	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37902202G>C	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1380C>G	22.37:g.37902202G>C						CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.L174L|CARD10_uc003asy.1_Silent_p.L460L	p.L460L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			7	1383	-	Melanoma(58;0.0574)		460					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.1380C>G	CCDS13948.1																																																																																				0.672	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550		14	30	0	0	0	0.007413	0	14	30		
APOBEC3B	9582	broad.mit.edu	37	22	39378461	39378461	+	Start_Codon_SNP	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39378461G>C	ENST00000333467.3	+	1	48	c.3G>C	c.(1-3)atG>atC	p.M1I	APOBEC3B_ENST00000402182.3_Start_Codon_SNP_p.M1I|APOBEC3B_ENST00000407298.3_Start_Codon_SNP_p.M1I	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	1					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GGCTGAACATGAATCCACAGA	0.597																																						uc011aoe.1		NaN																	0					0						c.(1-3)ATG>ATC		apolipoprotein B mRNA editing enzyme, catalytic							177.0	135.0	149.0					22																	39378461		2197	4283	6480	SO:0001582	initiator_codon_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39378461G>C	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.3G>C	22.37:g.39378461G>C	ENSP00000327459:p.Met1Ile					APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awo.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awp.1_Missense_Mutation_p.M1I|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Missense_Mutation_p.M1I|APOBEC3D_uc011aof.1_Missense_Mutation_p.M1I	p.M1I	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN			1	57	+	Melanoma(58;0.04)		1					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.3G>C	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	9.183	1.024068	0.19433	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66280	-0.08;-0.2;-0.06	1.73	-2.49	0.06403	.	.	.	.	.	T	0.66187	0.2764	.	.	.	0.09310	N	0.999999	P;B;P	0.45126	0.851;0.133;0.69	P;B;B	0.58391	0.838;0.01;0.23	T	0.58758	-0.7580	8	0.87932	D	0	.	2.6847	0.05104	0.3758:0.2582:0.3661:0.0	.	1;1;1	B2CML4;B0QYD2;Q9UH17	.;.;ABC3B_HUMAN	I	1	ENSP00000385068:M1I;ENSP00000385060:M1I;ENSP00000327459:M1I	ENSP00000327459:M1I	M	+	3	0	APOBEC3B	37708407	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.643000	0.05421	-0.553000	0.06158	0.313000	0.20887	ATG		0.597	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1		NM_004900	Missense_Mutation	30	19	0	0	0	0.002445	0	30	19		
APOBEC3G	60489	broad.mit.edu	37	22	39483104	39483104	+	Silent	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:39483104G>T	ENST00000407997.3	+	7	1470	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	APOBEC3G_ENST00000452957.2_Silent_p.L371L	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	371					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCCAAGACCTGAGTGGGAGGC	0.622																																						uc003awx.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1111-1113)CTG>CTT		apolipoprotein B mRNA editing enzyme, catalytic							106.0	97.0	100.0					22																	39483104		2203	4300	6503	SO:0001819	synonymous_variant	60489				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39483104G>T	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.1113G>T	22.37:g.39483104G>T						APOBEC3G_uc003awy.2_Silent_p.L304L	p.L371L	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			7	1455	+	Melanoma(58;0.04)		371					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	37	c.1113G>T	CCDS13984.1																																																																																				0.622	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1		NM_021822		27	70	1	0	6.07407e-21	0.007291	7.71311e-21	27	70		
TNRC6B	23112	broad.mit.edu	37	22	40661277	40661277	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:40661277C>G	ENST00000454349.2	+	5	1254	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S348*|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	348	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GAACAGCAGTCAAAGATGGAA	0.428																																						uc011aor.1		NaN																	0					0						c.(1042-1044)TCA>TGA		trinucleotide repeat containing 6B isoform 1							64.0	63.0	63.0					22																	40661277		1912	4133	6045	SO:0001587	stop_gained	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661277C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1043C>G	22.37:g.40661277C>G	ENSP00000401946:p.Ser348*					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S348*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S152*	p.S348*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	1254	+			348					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	c.1043C>G	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.997083|5.997083	0.97184|0.97184	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.256644	.|0.34802	.|N	.|0.003664	T|.	0.75170|.	0.3813|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79274|.	-0.1871|.	3|.	.|0.56958	.|D	.|0.05	-3.9968|-3.9968	17.1728|17.1728	0.86834|0.86834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	91|348	.|.	.|ENSP00000338371:S348X	Q|S	+|+	1|2	0|0	TNRC6B|TNRC6B	38991223|38991223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.742000|1.742000	0.38248|0.38248	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.428	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding					24	64	0	0	0	0.003954	0	24	64		
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		6	42	0	0	0	0.006214	0	6	42		
CELSR1	9620	broad.mit.edu	37	22	46759985	46759985	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46759985C>T	ENST00000262738.3	-	34	8942	c.8943G>A	c.(8941-8943)aaG>aaA	p.K2981K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2981					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCCAGGGCTCTTGACTGTGA	0.687																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(8941-8943)AAG>AAA		cadherin EGF LAG seven-pass G-type receptor 1							28.0	33.0	32.0					22																	46759985		2201	4299	6500	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46759985C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8943G>A	22.37:g.46759985C>T							p.K2981K	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	34	8943	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2981			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.8943G>A	CCDS14076.1																																																																																				0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		22	50	0	0	0	0.002299	0	22	50		
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TAGCCGCCCTCGCGGCTGCGG	0.687																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4144-4146)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 1							13.0	11.0	12.0					22																	46859643		2128	4185	6313	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859643C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4144G>A	22.37:g.46859643C>T	ENSP00000262738:p.Glu1382Lys						p.E1382K	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4144	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1382			Extracellular (Potential).|EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4144G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586164	0.86851	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	D;D	0.87334	-2.24;-2.05	4.22	4.22	0.49857	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000003	D	0.90065	0.6897	L	0.35723	1.085	0.50039	D	0.999842	D	0.89917	1.0	D	0.76575	0.988	D	0.91493	0.5213	10	0.72032	D	0.01	.	16.3944	0.83563	0.0:1.0:0.0:0.0	.	1382	Q9NYQ6	CELR1_HUMAN	K	1382	ENSP00000262738:E1382K;ENSP00000379293:E1382K	ENSP00000262738:E1382K	E	-	1	0	CELSR1	45238307	1.000000	0.71417	0.991000	0.47740	0.595000	0.36748	6.982000	0.76173	2.173000	0.68751	0.655000	0.94253	GAG		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		5	15	0	0	0	0.001168	0	5	15		
MLC1	23209	broad.mit.edu	37	22	50523236	50523236	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50523236C>T	ENST00000311597.5	-	2	702	c.96G>A	c.(94-96)gcG>gcA	p.A32A	MLC1_ENST00000535444.1_Intron|MLC1_ENST00000538737.1_Silent_p.A32A|MLC1_ENST00000431262.2_Silent_p.A32A|MLC1_ENST00000395876.2_Silent_p.A32A|MLC1_ENST00000450140.2_Silent_p.A32A	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	32					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CGCTCGGCTTCGCGTCTGGGG	0.637																																						uc003bjg.1		NaN																	0				pancreas(1)	1						c.(94-96)GCG>GCA		megalencephalic leukoencephalopathy with							52.0	49.0	50.0					22																	50523236		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50523236C>T	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.96G>A	22.37:g.50523236C>T						MLC1_uc011arl.1_Silent_p.A32A|MLC1_uc003bjh.1_Silent_p.A32A|MLC1_uc011arm.1_Silent_p.A32A|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Silent_p.A32A	p.A32A	NM_139202	NP_631941	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	2	369	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	32					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.96G>A	CCDS14083.1																																																																																				0.637	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2		NM_015166		22	54	0	0	0	0.001882	0	22	54		
TUBGCP6	85378	broad.mit.edu	37	22	50657502	50657502	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr22:50657502C>G	ENST00000248846.5	-	20	4725	c.4621G>C	c.(4621-4623)Gag>Cag	p.E1541Q	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1541					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCACCTTCTCAAAGAGCAGG	0.657																																						uc003bkb.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(4621-4623)GAG>CAG		tubulin, gamma complex associated protein 6							25.0	24.0	24.0					22																	50657502		2203	4299	6502	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657502C>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4621G>C	22.37:g.50657502C>G	ENSP00000248846:p.Glu1541Gln					TUBGCP6_uc003bka.1_Missense_Mutation_p.E628Q|TUBGCP6_uc010har.1_Missense_Mutation_p.E1533Q|TUBGCP6_uc010has.1_RNA	p.E1541Q	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	20	5133	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1541					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4621G>C	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845370	0.71603	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.08282	3.11;3.11	5.16	5.16	0.70880	.	0.211739	0.49305	D	0.000150	T	0.27900	0.0687	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.00529	-1.1687	10	0.46703	T	0.11	.	18.2382	0.89957	0.0:1.0:0.0:0.0	.	1533;1541;1541	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	Q	1541;227	ENSP00000248846:E1541Q;ENSP00000405979:E227Q	ENSP00000248846:E1541Q	E	-	1	0	TUBGCP6	48999629	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.248000	0.78268	2.403000	0.81681	0.591000	0.81541	GAG		0.657	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461		4	47	0	0	0	0.000602	0	4	47		
EDEM1	9695	broad.mit.edu	37	3	5246762	5246762	+	Silent	SNP	G	G	C	rs567245691		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:5246762G>C	ENST00000256497.4	+	6	1186	c.1053G>C	c.(1051-1053)gtG>gtC	p.V351V	EDEM1_ENST00000445686.1_Silent_p.V156V	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	351					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GCAATGTCGTGAACATTCAGA	0.517																																						uc003bqi.2		NaN																	0				ovary(2)|breast(1)	3						c.(1051-1053)GTG>GTC		ER degradation enhancer, mannosidase alpha-like							97.0	103.0	101.0					3																	5246762		2203	4300	6503	SO:0001819	synonymous_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5246762G>C	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1053G>C	3.37:g.5246762G>C						EDEM1_uc011asz.1_Silent_p.V129V|EDEM1_uc003bqh.2_Silent_p.V351V	p.V351V	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	6	1185	+			351			Lumenal (Potential).		A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	c.1053G>C	CCDS33686.1																																																																																				0.517	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		60	76	0	0	0	0.00361	0	60	76		
FANCD2OS	115795	broad.mit.edu	37	3	10146088	10146088	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:10146088G>A	ENST00000450660.2	-	2	587	c.371C>T	c.(370-372)tCa>tTa	p.S124L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S124L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	124																	GCAAAAGGCTGACTTGTCTGA	0.522																																						uc003buz.2		NaN																	0					0						c.(370-372)TCA>TTA		hypothetical protein LOC115795							162.0	150.0	154.0					3																	10146088		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146088G>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.371C>T	3.37:g.10146088G>A	ENSP00000429608:p.Ser124Leu					C3orf24_uc003bva.1_Missense_Mutation_p.S124L	p.S124L	NM_173472	NP_775743	Q96PS1	CC024_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.196)	2	596	-			124						Missense_Mutation	SNP	ENST00000450660.2	37	c.371C>T	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410395	0.83340	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000012	T	0.64832	0.2634	L	0.29908	0.895	0.49389	D	0.999788	D	0.54772	0.968	P	0.61874	0.895	T	0.67914	-0.5547	9	0.87932	D	0	.	16.9439	0.86225	0.0:0.0:1.0:0.0	.	124	Q96PS1	CC024_HUMAN	L	124	.	ENSP00000429608:S124L	S	-	2	0	C3orf24	10121088	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.820000	0.69250	2.608000	0.88229	0.650000	0.86243	TCA		0.522	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2		NM_173472		23	173	0	0	0	0.00278	0	23	173		
PPARG	5468	broad.mit.edu	37	3	12458253	12458253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:12458253C>G	ENST00000287820.6	+	6	991	c.870C>G	c.(868-870)atC>atG	p.I290M	PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397026.2_Missense_Mutation_p.I268M|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.I262M|PPARG_ENST00000309576.6_Missense_Mutation_p.I262M|PPARG_ENST00000397010.2_Missense_Mutation_p.I262M|PPARG_ENST00000397012.2_Missense_Mutation_p.I262M	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	290					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	AAGATAAAATCAAGTTCAAAC	0.473			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															uc003bwx.2		NaN		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		0				ovary(1)|kidney(1)	2						c.(868-870)ATC>ATG		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						63.0	60.0	61.0					3																	12458253		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12458253C>G	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.870C>G	3.37:g.12458253C>G	ENSP00000287820:p.Ile290Met					PPARG_uc003bwr.2_Missense_Mutation_p.I262M|PPARG_uc003bws.2_Missense_Mutation_p.I262M|PPARG_uc003bwu.2_Missense_Mutation_p.I262M|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	p.I290M	NM_015869	NP_056953	P37231	PPARG_HUMAN			6	961	+			290					A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.870C>G	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105659	0.56291	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	6.07	3.98	0.46160	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	L	0.43701	1.375	0.80722	D	1	D	0.53462	0.96	P	0.48114	0.567	T	0.71603	-0.4543	10	0.51188	T	0.08	.	13.971	0.64240	0.0:0.858:0.0:0.142	.	290	P37231	PPARG_HUMAN	M	262;262;262;262;268;290	ENSP00000380205:I262M;ENSP00000312472:I262M;ENSP00000380210:I262M;ENSP00000380207:I262M;ENSP00000380221:I268M;ENSP00000287820:I290M	ENSP00000287820:I290M	I	+	3	3	PPARG	12433253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.159000	0.31749	1.578000	0.49821	0.655000	0.94253	ATC		0.473	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037		17	27	0	0	0	0.00499	0	17	27		
ANKRD28	23243	broad.mit.edu	37	3	15762601	15762601	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:15762601G>C	ENST00000399451.2	-	8	1094	c.727C>G	c.(727-729)Ctt>Gtt	p.L243V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L276V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	243						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCTACATGAAGAGGTGTATTT	0.328																																						uc003caj.1		NaN																	0				breast(1)	1						c.(727-729)CTT>GTT		ankyrin repeat domain 28							300.0	290.0	293.0					3																	15762601		1876	4104	5980	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15762601G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.727C>G	3.37:g.15762601G>C	ENSP00000382379:p.Leu243Val					ANKRD28_uc003cai.1_Missense_Mutation_p.L89V|ANKRD28_uc011avz.1_Missense_Mutation_p.L89V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.L273V|ANKRD28_uc003cam.2_Missense_Mutation_p.L276V	p.L243V	NM_015199	NP_056014	O15084	ANR28_HUMAN			8	870	-			243			ANK 7.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.727C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045185	0.93685	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.35048	1.33;1.33;1.33	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.88512	2.96	0.80722	D	1	D;D;D	0.71674	0.997;0.978;0.998	P;P;D	0.64144	0.806;0.662;0.922	T	0.71906	-0.4451	10	0.87932	D	0	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	276;273;243	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	V	243;276;243	ENSP00000382379:L243V;ENSP00000373287:L276V;ENSP00000397341:L243V	ENSP00000373287:L276V	L	-	1	0	ANKRD28	15737605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.952000	0.87827	2.868000	0.98415	0.557000	0.71058	CTT		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		59	471	0	0	0	0.00361	0	59	471		
TRANK1	9881	broad.mit.edu	37	3	36899292	36899292	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:36899292G>A	ENST00000429976.2	-	12	2036	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	TRANK1_ENST00000301807.6_Silent_p.L47L|TRANK1_ENST00000428977.2_Silent_p.L47L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	597							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCAAGAGCAGAGAGTCGTTC	0.532																																						uc003cgj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(139-141)CTG>TTG		lupus brain antigen 1							139.0	135.0	136.0					3																	36899292		1962	4162	6124	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899292G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1789C>T	3.37:g.36899292G>A							p.L47L	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	441	-			597					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.139C>T	CCDS46789.2																																																																																				0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		34	213	0	0	0	0.002836	0	34	213		
LRRFIP2	9209	broad.mit.edu	37	3	37151043	37151043	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:37151043G>A	ENST00000336686.4	-	11	664	c.584C>T	c.(583-585)tCt>tTt	p.S195F	LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.S195F|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	195	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CAGCAGACCAGAATTTGCAGT	0.438																																						uc003cgp.2		NaN																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(583-585)TCT>TTT		leucine rich repeat (in FLII) interacting							128.0	127.0	127.0					3																	37151043		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37151043G>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.584C>T	3.37:g.37151043G>A	ENSP00000338727:p.Ser195Phe					LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	p.S195F	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			12	1007	-			195			DVL3-binding.|Ser-rich.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.584C>T	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980535	0.53827	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.46063	0.88;0.88	5.4	4.49	0.54785	.	0.506283	0.21247	N	0.077701	T	0.29288	0.0729	N	0.08118	0	0.29722	N	0.838571	P	0.37955	0.612	B	0.41088	0.347	T	0.22243	-1.0222	10	0.44086	T	0.13	-2.5428	15.9771	0.80076	0.0:0.1344:0.8656:0.0	.	195	Q9Y608	LRRF2_HUMAN	F	195	ENSP00000392217:S195F;ENSP00000338727:S195F	ENSP00000338727:S195F	S	-	2	0	LRRFIP2	37126047	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.728000	0.54991	2.818000	0.97014	0.655000	0.94253	TCT		0.438	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3		NM_006309		48	75	0	0	0	0.00361	0	48	75		
SCN10A	6336	broad.mit.edu	37	3	38739903	38739903	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38739903G>T	ENST00000449082.2	-	27	4807	c.4808C>A	c.(4807-4809)tCc>tAc	p.S1603Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1603					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGCAGGCAGGGACATCATGAG	0.562																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4807-4809)TCC>TAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						177.0	163.0	168.0					3																	38739903		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739903G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4808C>A	3.37:g.38739903G>T	ENSP00000390600:p.Ser1603Tyr						p.S1603Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4808	-			1603			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4808C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325757	0.81580	.	.	ENSG00000185313	ENST00000449082	D	0.98996	-5.31	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.99764	4.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97061	0.9771	10	0.87932	D	0	.	19.406	0.94647	0.0:0.0:1.0:0.0	.	1603	Q9Y5Y9	SCNAA_HUMAN	Y	1603	ENSP00000390600:S1603Y	ENSP00000390600:S1603Y	S	-	2	0	SCN10A	38714907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.644000	0.98468	2.822000	0.97130	0.655000	0.94253	TCC		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		27	124	1	0	5.61819e-17	0.005443	7.09044e-17	27	124		
SCN10A	6336	broad.mit.edu	37	3	38743465	38743465	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38743465G>C	ENST00000449082.2	-	26	4521	c.4522C>G	c.(4522-4524)Ctg>Gtg	p.L1508V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1508					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATTTTGCCCAGAATTTTCGTC	0.448																																						uc003ciq.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4522-4524)CTG>GTG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						168.0	146.0	154.0					3																	38743465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743465G>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4522C>G	3.37:g.38743465G>C	ENSP00000390600:p.Leu1508Val						p.L1508V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4522	-			1508			IV.|Helical; Name=S2 of repeat IV; (Potential).		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4522C>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608301	0.66558	.	.	ENSG00000185313	ENST00000449082	D	0.98164	-4.76	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	D	0.99378	0.9781	H	0.97265	3.97	0.58432	D	0.999992	D	0.76494	0.999	D	0.83275	0.996	D	0.98380	1.0558	10	0.87932	D	0	.	17.8452	0.88728	0.0:0.0:1.0:0.0	.	1508	Q9Y5Y9	SCNAA_HUMAN	V	1508	ENSP00000390600:L1508V	ENSP00000390600:L1508V	L	-	1	2	SCN10A	38718469	1.000000	0.71417	0.184000	0.23157	0.526000	0.34562	9.595000	0.98260	2.434000	0.82447	0.557000	0.71058	CTG		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514		14	94	0	0	0	0.00245	0	14	94		
SCN11A	11280	broad.mit.edu	37	3	38962667	38962667	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:38962667G>A	ENST00000302328.3	-	6	990	c.792C>T	c.(790-792)ctC>ctT	p.L264L	SCN11A_ENST00000444237.2_Silent_p.L264L|SCN11A_ENST00000450244.1_Silent_p.L264L|SCN11A_ENST00000456224.3_Silent_p.L264L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	264					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGATGCTGAGGCAAAAGA	0.498																																						uc011ays.1		NaN																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(790-792)CTC>CTT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						168.0	166.0	167.0					3																	38962667		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962667G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.792C>T	3.37:g.38962667G>A							p.L264L	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	991	-			264			Helical; Name=S5 of repeat I; (By similarity).|I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.792C>T	CCDS33737.1																																																																																				0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		34	252	0	0	0	0.002836	0	34	252		
ENTPD3	956	broad.mit.edu	37	3	40457535	40457535	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:40457535G>C	ENST00000301825.3	+	7	920	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	ENTPD3_ENST00000445129.1_Missense_Mutation_p.E268Q|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E268Q|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	268					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552																																						uc003ckd.3		NaN																	0				ovary(1)	1						c.(802-804)GAG>CAG		ectonucleoside triphosphate diphosphohydrolase							85.0	71.0	76.0					3																	40457535		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457535G>C	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.802G>C	3.37:g.40457535G>C	ENSP00000301825:p.Glu268Gln					ENTPD3_uc010hhy.2_Missense_Mutation_p.E268Q|uc003cke.3_Intron	p.E268Q	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	894	+			268			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.802G>C	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209304	0.39003	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.11277	2.79;2.79;2.79	5.38	5.38	0.77491	.	0.092595	0.64402	D	0.000001	T	0.14013	0.0339	L	0.41961	1.31	0.49687	D	0.99981	P	0.42908	0.793	B	0.42959	0.403	T	0.01767	-1.1278	10	0.35671	T	0.21	-24.2202	17.0019	0.86383	0.0:0.0:1.0:0.0	.	268	O75355	ENTP3_HUMAN	Q	268	ENSP00000301825:E268Q;ENSP00000401565:E268Q;ENSP00000404671:E268Q	ENSP00000301825:E268Q	E	+	1	0	ENTPD3	40432539	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.454000	0.66651	2.680000	0.91292	0.655000	0.94253	GAG		0.552	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2		NM_001248		18	36	0	0	0	0.00499	0	18	36		
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692																																						uc003crp.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(355-357)GAT>AAT		chondroitin sulfate proteoglycan 5 (neuroglycan							31.0	37.0	35.0					3																	47619161		2193	4287	6480	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47619161C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.355G>A	3.37:g.47619161C>T	ENSP00000373244:p.Asp119Asn					CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR	p.D119N	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	531	-			119			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.355G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775440	0.90108	.	.	ENSG00000114646	ENST00000383738;ENST00000264723	T;T	0.50548	0.74;0.74	3.92	3.92	0.45320	Chondroitin sulphate attachment (1);	0.086056	0.45126	D	0.000391	T	0.53286	0.1787	L	0.27053	0.805	0.33250	D	0.558451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.64719	-0.6341	10	0.66056	D	0.02	-27.6038	11.6049	0.51026	0.0:1.0:0.0:0.0	.	119;119	O95196;O95196-2	CSPG5_HUMAN;.	N	119	ENSP00000373244:D119N;ENSP00000264723:D119N	ENSP00000264723:D119N	D	-	1	0	CSPG5	47594165	0.419000	0.25449	0.998000	0.56505	0.913000	0.54294	2.246000	0.43142	2.189000	0.69895	0.579000	0.79373	GAT		0.692	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1		NM_006574		16	82	0	0	0	0.00499	0	16	82		
COL7A1	1294	broad.mit.edu	37	3	48612779	48612779	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48612779C>T	ENST00000328333.8	-	73	6280	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2026E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2058	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCTCTCTCCTGGCCTTCC	0.697																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(6172-6174)GGA>GAA		alpha 1 type VII collagen precursor							21.0	25.0	24.0					3																	48612779		2203	4298	6501	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612779C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6173G>A	3.37:g.48612779C>T	ENSP00000332371:p.Gly2058Glu						p.G2058E	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6174	-			2058			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6173G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682319	0.47991	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99619	-6.28;-6.28	4.7	4.7	0.59300	.	0.000000	0.39274	N	0.001401	D	0.99785	0.9910	H	0.97051	3.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96858	0.9630	10	0.87932	D	0	.	17.8303	0.88680	0.0:1.0:0.0:0.0	.	2058	Q02388	CO7A1_HUMAN	E	2058;2026	ENSP00000332371:G2058E;ENSP00000412569:G2026E	ENSP00000332371:G2058E	G	-	2	0	COL7A1	48587783	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.403000	0.79983	2.426000	0.82243	0.563000	0.77884	GGA		0.697	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		26	30	0	0	0	0.007291	0	26	30		
CELSR3	1951	broad.mit.edu	37	3	48697852	48697852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48697852G>A	ENST00000164024.4	-	1	2496	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	CELSR3_ENST00000544264.1_Missense_Mutation_p.S739L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	739	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACACTGGCTGAGGCAGAGAG	0.567																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2215-2217)TCA>TTA		cadherin EGF LAG seven-pass G-type receptor 3							83.0	79.0	80.0					3																	48697852		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697852G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2216C>T	3.37:g.48697852G>A	ENSP00000164024:p.Ser739Leu					CELSR3_uc003cuf.1_Missense_Mutation_p.S809L	p.S739L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2497	-			739			Extracellular (Potential).|Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2216C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778582	0.70107	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.03553	3.89;3.89	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.13670	0.0331	L	0.45352	1.415	0.58432	D	0.999999	D;D	0.57571	0.971;0.98	D;P	0.65323	0.934;0.779	T	0.00112	-1.2043	9	0.72032	D	0.01	.	20.0852	0.97797	0.0:0.0:1.0:0.0	.	739;809	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	739	ENSP00000164024:S739L;ENSP00000445694:S739L	ENSP00000164024:S739L	S	-	2	0	CELSR3	48672856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.866000	0.87056	2.756000	0.94617	0.561000	0.74099	TCA		0.567	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		34	53	0	0	0	0.007835	0	34	53		
CELSR3	1951	broad.mit.edu	37	3	48698805	48698805	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48698805C>G	ENST00000164024.4	-	1	1543	c.1263G>C	c.(1261-1263)gtG>gtC	p.V421V	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.V421V	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	421	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCTACTGTCACGGCCACCA	0.662																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1261-1263)GTG>GTC		cadherin EGF LAG seven-pass G-type receptor 3							27.0	31.0	30.0					3																	48698805		2201	4300	6501	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698805C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1263G>C	3.37:g.48698805C>G						CELSR3_uc003cuf.1_Silent_p.V491V	p.V421V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1544	-			421			Extracellular (Potential).|Cadherin 1.		O75092	Silent	SNP	ENST00000164024.4	37	c.1263G>C	CCDS2775.1																																																																																				0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		36	53	0	0	0	0.004289	0	36	53		
PRKAR2A	5576	broad.mit.edu	37	3	48820513	48820513	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:48820513G>T	ENST00000265563.8	-	5	697	c.448C>A	c.(448-450)Caa>Aaa	p.Q150K	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q150K|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q150K	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	150					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TCGAGAACTTGAGAAAGCTGT	0.383																																						uc010hki.1		NaN																	0				ovary(1)	1						c.(448-450)CAA>AAA		cAMP-dependent protein kinase, regulatory							143.0	123.0	129.0					3																	48820513		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48820513G>T		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.448C>A	3.37:g.48820513G>T	ENSP00000265563:p.Gln150Lys					PRKAR2A_uc003cux.1_Missense_Mutation_p.Q150K|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Q150K	p.Q150K	NM_004157	NP_004148	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	5	689	-			150			cAMP 1.		Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.448C>A	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581278	0.46006	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	T;T;T	0.41400	1.0;1.0;1.0	4.51	0.0239	0.14139	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.391618	0.25674	N	0.029045	T	0.34571	0.0902	M	0.68593	2.085	0.58432	D	0.999997	P;B	0.35944	0.529;0.364	B;B	0.29716	0.098;0.106	T	0.41484	-0.9506	10	0.07813	T	0.8	-0.8676	16.7731	0.85544	0.0:0.4675:0.5325:0.0	.	150;150	Q9BUB1;P13861	.;KAP2_HUMAN	K	150	ENSP00000265563:Q150K;ENSP00000394041:Q150K;ENSP00000296446:Q150K	ENSP00000265563:Q150K	Q	-	1	0	PRKAR2A	48795517	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.098000	0.41757	0.175000	0.19841	0.655000	0.94253	CAA		0.383	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1				10	67	1	0	4.68919e-08	0.008291	5.70789e-08	10	67		
WDR6	11180	broad.mit.edu	37	3	49049462	49049462	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:49049462G>A	ENST00000608424.1	+	2	534	c.495G>A	c.(493-495)ctG>ctA	p.L165L	WDR6_ENST00000448293.1_Silent_p.L114L|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Silent_p.L195L|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	165					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGCCTGCCTGATTGGAGACG	0.567																																						uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(583-585)CTG>CTA		WD repeat domain 6 protein							57.0	50.0	52.0					3																	49049462		2203	4300	6503	SO:0001819	synonymous_variant	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049462G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.495G>A	3.37:g.49049462G>A						WDR6_uc011bbx.1_Silent_p.L66L|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.L139L|WDR6_uc011bbz.1_Silent_p.L114L	p.L195L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	723	+			165			WD 2.		B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	ENST00000608424.1	37	c.585G>A																																																																																					0.567	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				6	50	0	0	0	0.001168	0	6	50		
SEMA3F	6405	broad.mit.edu	37	3	50211515	50211515	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50211515G>A	ENST00000002829.3	+	4	788	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E34K|MIR566_ENST00000385187.1_RNA|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E102K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	102	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACAGCGCATCGAGGAATGCGT	0.627																																						uc003cyj.2		NaN																	0				lung(1)|skin(1)	2						c.(304-306)GAG>AAG		semaphorin 3F precursor							83.0	81.0	82.0					3																	50211515		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50211515G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.304G>A	3.37:g.50211515G>A	ENSP00000002829:p.Glu102Lys					SEMA3F_uc003cyk.2_Missense_Mutation_p.E102K	p.E102K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	4	502	+			102			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.304G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776259	0.49786	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000413852;ENST00000002829;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.216163	0.47852	D	0.000210	T	0.10981	0.0268	L	0.28192	0.835	0.42321	D	0.992251	B;B	0.28258	0.178;0.205	B;B	0.29524	0.103;0.031	T	0.11036	-1.0604	10	0.72032	D	0.01	.	17.6972	0.88285	0.0:0.0:1.0:0.0	.	102;102	C9JQ85;Q13275	.;SEM3F_HUMAN	K	102;102;34;102;102;60	ENSP00000392588:E102K;ENSP00000398399:E102K;ENSP00000388931:E34K;ENSP00000002829:E102K;ENSP00000409859:E102K;ENSP00000416356:E60K	ENSP00000002829:E102K	E	+	1	0	SEMA3F	50186519	1.000000	0.71417	0.998000	0.56505	0.499000	0.33736	4.516000	0.60496	2.598000	0.87819	0.561000	0.74099	GAG		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1		NM_004186		38	37	0	0	0	0.004878	0	38	37		
HYAL2	8692	broad.mit.edu	37	3	50357236	50357236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:50357236C>T	ENST00000447092.1	-	1	2977	c.685G>A	c.(685-687)Gat>Aat	p.D229N	HYAL2_ENST00000395139.3_Missense_Mutation_p.D229N|HYAL2_ENST00000442581.1_Missense_Mutation_p.D229N|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000357750.4_Missense_Mutation_p.D229N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	229					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCTCAACATCAGGGCAGCGG	0.612																																						uc003czu.2		NaN																	0				ovary(1)	1						c.(685-687)GAT>AAT		hyaluronoglucosaminidase 2 precursor	Hyaluronidase(DB00070)						44.0	46.0	45.0					3																	50357236		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357236C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.685G>A	3.37:g.50357236C>T	ENSP00000401853:p.Asp229Asn					HYAL2_uc003czx.2_Missense_Mutation_p.D229N|HYAL2_uc003czv.2_Missense_Mutation_p.D229N|HYAL2_uc003czw.2_Missense_Mutation_p.D229N|HYAL2_uc010hlj.2_Missense_Mutation_p.D229N	p.D229N	NM_033158	NP_149348	Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	905	-			229					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.685G>A	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231867	0.58777	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.93	5.93	0.95920	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.089147	0.85682	D	0.000000	T	0.44561	0.1299	L	0.42581	1.335	0.58432	D	0.999993	D;P	0.76494	0.999;0.642	D;B	0.72625	0.978;0.444	T	0.03463	-1.1034	10	0.32370	T	0.25	-29.6432	18.9179	0.92513	0.0:1.0:0.0:0.0	.	229;229	B3KRZ2;Q12891	.;HYAL2_HUMAN	N	229	ENSP00000401853:D229N;ENSP00000350387:D229N;ENSP00000378571:D229N;ENSP00000406657:D229N	ENSP00000350387:D229N	D	-	1	0	HYAL2	50332240	1.000000	0.71417	0.946000	0.38457	0.009000	0.06853	7.755000	0.85180	2.811000	0.96726	0.557000	0.71058	GAT		0.612	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1		NM_003773		17	32	0	0	0	0.004007	0	17	32		
NT5DC2	64943	broad.mit.edu	37	3	52558487	52558487	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52558487C>T	ENST00000307076.4	-	14	1962	c.1562G>A	c.(1561-1563)tGa>tAa	p.*521*	NT5DC2_ENST00000307092.4_Silent_p.*462*|STAB1_ENST00000321725.6_3'UTR|NT5DC2_ENST00000422318.2_Silent_p.*558*|NT5DC2_ENST00000459839.1_Silent_p.*533*	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	0							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AAGGTGCCCTCAGCGGATGTG	0.612																																						uc003deo.2		NaN																	0					0						c.(1561-1563)TGA>TAA		5'-nucleotidase domain containing 2 isoform 2							82.0	93.0	89.0					3																	52558487		2203	4299	6502	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52558487C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1562G>A	3.37:g.52558487C>T						NT5DC2_uc003dem.2_Silent_p.*391*|NT5DC2_uc003den.2_Silent_p.*558*|NT5DC2_uc010hmi.2_Silent_p.*533*|NT5DC2_uc010hmj.2_Silent_p.*337*|STAB1_uc003dej.2_3'UTR|STAB1_uc003del.2_3'UTR	p.*521*	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	14	1986	-			521					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.1562G>A	CCDS2858.1																																																																																				0.612	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1		NM_022908		98	110	0	0	0	0.00361	0	98	110		
PBRM1	55193	broad.mit.edu	37	3	52643561	52643561	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52643561G>C	ENST00000296302.7	-	16	2336	c.2335C>G	c.(2335-2337)Caa>Gaa	p.Q779E	PBRM1_ENST00000409057.1_Missense_Mutation_p.Q779E|PBRM1_ENST00000356770.4_Missense_Mutation_p.Q747E|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q794E|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q779E|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q779E|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q794E|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q779E			Q86U86	PB1_HUMAN	polybromo 1	779					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q779*(5)|p.Q747*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAGCTCTTGAATCAGCAAA	0.448			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		6	Substitution - Nonsense(6)	p.Q779*(3)	kidney(5)|breast(1)	kidney(136)|breast(4)	140						c.(2335-2337)CAA>GAA		polybromo 1 isoform 4							90.0	84.0	86.0					3																	52643561		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643561G>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2335C>G	3.37:g.52643561G>C	ENSP00000296302:p.Gln779Glu					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.Q779E|PBRM1_uc003der.2_Missense_Mutation_p.Q747E|PBRM1_uc003det.2_Missense_Mutation_p.Q794E|PBRM1_uc003deu.2_Missense_Mutation_p.Q794E|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.Q779E|PBRM1_uc010hmk.1_Missense_Mutation_p.Q779E|PBRM1_uc003dey.2_Missense_Mutation_p.Q779E|PBRM1_uc003dez.1_Missense_Mutation_p.Q779E|PBRM1_uc003dfb.1_Missense_Mutation_p.Q692E|PBRM1_uc003dfa.1_Missense_Mutation_p.Q125E|PBRM1_uc003dfc.2_Missense_Mutation_p.Q146E	p.Q779E	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2347	-			779					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2335C>G		.	.	.	.	.	.	.	.	.	.	G	19.37	3.814981	0.70912	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.37915	1.2;1.18;1.23;1.19;1.19;1.17;1.66;1.2;1.21;1.23	6.17	6.17	0.99709	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.65975	2.015	0.80722	D	1	P;B;B;P;D;P;P;P;P;P;P	0.57899	0.924;0.252;0.43;0.923;0.981;0.905;0.956;0.907;0.941;0.769;0.884	B;B;B;B;P;B;P;P;B;B;P	0.60012	0.371;0.049;0.229;0.336;0.867;0.298;0.455;0.479;0.365;0.195;0.455	T	0.56836	-0.7913	10	0.72032	D	0.01	-15.2806	20.8794	0.99867	0.0:0.0:1.0:0.0	.	779;154;779;779;779;779;794;794;779;747;779	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	E	747;779;779;779;779;779;794;794;779;738	ENSP00000349213:Q747E;ENSP00000378307:Q779E;ENSP00000296302:Q779E;ENSP00000338302:Q779E;ENSP00000386593:Q779E;ENSP00000386529:Q779E;ENSP00000386643:Q794E;ENSP00000386601:Q794E;ENSP00000387775:Q779E;ENSP00000397662:Q738E	ENSP00000296302:Q779E	Q	-	1	0	PBRM1	52618601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAA		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		36	43	0	0	0	0.003755	0	36	43		
PBRM1	55193	broad.mit.edu	37	3	52696218	52696218	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:52696218C>T	ENST00000296302.7	-	4	460	c.459G>A	c.(457-459)caG>caA	p.Q153Q	PBRM1_ENST00000409057.1_Silent_p.Q153Q|PBRM1_ENST00000356770.4_Silent_p.Q153Q|PBRM1_ENST00000409114.3_Silent_p.Q153Q|PBRM1_ENST00000337303.4_Silent_p.Q153Q|PBRM1_ENST00000394830.3_Silent_p.Q153Q|PBRM1_ENST00000409767.1_Silent_p.Q153Q|PBRM1_ENST00000410007.1_Silent_p.Q153Q			Q86U86	PB1_HUMAN	polybromo 1	153					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTCTCCTTTCTGAACAAACT	0.418			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(457-459)CAG>CAA		polybromo 1 isoform 4							265.0	233.0	244.0					3																	52696218		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52696218C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.459G>A	3.37:g.52696218C>T						PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.Q153Q|PBRM1_uc003der.2_Silent_p.Q153Q|PBRM1_uc003det.2_Silent_p.Q153Q|PBRM1_uc003deu.2_Silent_p.Q153Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.Q153Q|PBRM1_uc010hmk.1_Silent_p.Q153Q|PBRM1_uc003dey.2_Silent_p.Q153Q|PBRM1_uc003dez.1_Silent_p.Q153Q|PBRM1_uc003dfb.1_Silent_p.Q51Q	p.Q153Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	471	-			153					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.459G>A																																																																																					0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		32	217	0	0	0	0.001786	0	32	217		
CACNA1D	776	broad.mit.edu	37	3	53783406	53783406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:53783406C>T	ENST00000350061.5	+	27	3937	c.3426C>T	c.(3424-3426)ttC>ttT	p.F1142F	CACNA1D_ENST00000422281.2_Silent_p.F1142F|CACNA1D_ENST00000288139.4_Silent_p.F1162F|CACNA1D_ENST00000540742.1_Silent_p.F49F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1142	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGCTTTCTTCATGATGAACA	0.418																																						uc003dgv.3		NaN																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3424-3426)TTC>TTT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						162.0	138.0	146.0					3																	53783406		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783406C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3426C>T	3.37:g.53783406C>T						CACNA1D_uc003dgu.3_Silent_p.F1162F|CACNA1D_uc003dgy.3_Silent_p.F1142F|CACNA1D_uc003dgw.3_Silent_p.F809F|CACNA1D_uc003dgx.1_Silent_p.F290F	p.F1142F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	27	3589	+			1142			Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).|III.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.3426C>T	CCDS46848.1																																																																																				0.418	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720		33	44	0	0	0	0.002096	0	33	44		
ERC2	26059	broad.mit.edu	37	3	55733504	55733504	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:55733504C>T	ENST00000288221.6	-	16	3004	c.2749G>A	c.(2749-2751)Gat>Aat	p.D917N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	917						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		tggtCATCATCATAGTTGTCT	0.498																																						uc003dhr.1		NaN																	0				ovary(2)	2						c.(2749-2751)GAT>AAT		cytomatrix protein p110							239.0	243.0	242.0					3																	55733504		2076	4221	6297	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733504C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2749G>A	3.37:g.55733504C>T	ENSP00000288221:p.Asp917Asn					ERC2_uc003dhq.1_RNA	p.D917N	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3005	-			917			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2749G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553442	0.65425	.	.	ENSG00000187672	ENST00000288221	T	0.33654	1.4	5.66	4.76	0.60689	.	0.362136	0.31624	N	0.007338	T	0.20414	0.0491	N	0.08118	0	0.47037	D	0.999291	B	0.27498	0.18	B	0.18871	0.023	T	0.06144	-1.0843	10	0.62326	D	0.03	-7.4462	13.4961	0.61426	0.0:0.9208:0.0:0.0792	.	917	O15083	ERC2_HUMAN	N	917	ENSP00000288221:D917N	ENSP00000288221:D917N	D	-	1	0	ERC2	55708544	1.000000	0.71417	0.828000	0.32881	0.989000	0.77384	5.658000	0.68003	1.450000	0.47717	0.655000	0.94253	GAT		0.498	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2		NM_015576		121	193	0	0	0	0.00361	0	121	193		
MAGI1	9223	broad.mit.edu	37	3	65342307	65342307	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:65342307C>T	ENST00000402939.2	-	23	4134	c.4135G>A	c.(4135-4137)Gag>Aag	p.E1379K	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1408					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCTCTGCTCCAGGAGTCTC	0.726																																						uc003dmn.2		NaN																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(4135-4137)GAG>AAG		membrane associated guanylate kinase, WW and PDZ							31.0	35.0	34.0					3																	65342307		2203	4298	6501	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342307C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4135G>A	3.37:g.65342307C>T	ENSP00000385450:p.Glu1379Lys					MAGI1_uc003dmm.2_3'UTR	p.E1379K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4661	-		Lung NSC(201;0.0016)	1408					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4135G>A	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	8.507	0.865666	0.17250	.	.	ENSG00000151276	ENST00000402939	T	0.11712	2.75	5.31	4.43	0.53597	.	0.368291	0.26627	N	0.023340	T	0.07188	0.0182	N	0.14661	0.345	0.80722	D	1	B	0.16802	0.019	B	0.18561	0.022	T	0.21348	-1.0248	10	0.12430	T	0.62	-12.914	15.5059	0.75739	0.1392:0.8608:0.0:0.0	.	1379	Q96QZ7-2	.	K	1379	ENSP00000385450:E1379K	ENSP00000385450:E1379K	E	-	1	0	MAGI1	65317347	0.999000	0.42202	0.465000	0.27155	0.008000	0.06430	2.367000	0.44213	1.224000	0.43551	0.655000	0.94253	GAG		0.726	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1		NM_004742		22	58	0	0	0	0.002299	0	22	58		
LRIG1	26018	broad.mit.edu	37	3	66434683	66434683	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66434683G>A	ENST00000273261.3	-	14	2327	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	LRIG1_ENST00000383703.3_Silent_p.F625F|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	601	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGTTTTGGTGAATGATGGCA	0.547																																						uc003dmx.2		NaN																	0				skin(3)|ovary(2)	5						c.(1801-1803)TTC>TTT		leucine-rich repeats and immunoglobulin-like							229.0	221.0	224.0					3																	66434683		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66434683G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1803C>T	3.37:g.66434683G>A						SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.F221F|LRIG1_uc003dmw.2_Silent_p.F267F|LRIG1_uc010hnz.2_Silent_p.F317F|LRIG1_uc010hoa.2_Silent_p.F625F	p.F601F	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	1817	-		Lung NSC(201;0.0101)	601			Extracellular (Potential).|Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1803C>T	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541		56	283	0	0	0	0.00361	0	56	283		
LRIG1	26018	broad.mit.edu	37	3	66502041	66502041	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:66502041C>T	ENST00000273261.3	-	3	831	c.307G>A	c.(307-309)Gag>Aag	p.E103K	LRIG1_ENST00000383703.3_Missense_Mutation_p.E103K	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	103					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E103*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTGTCAACTCATTATTATTG	0.438																																						uc003dmx.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(307-309)GAG>AAG		leucine-rich repeats and immunoglobulin-like							166.0	148.0	154.0					3																	66502041		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66502041C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.307G>A	3.37:g.66502041C>T	ENSP00000273261:p.Glu103Lys					LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.E103K	p.E103K	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	321	-		Lung NSC(201;0.0101)	103			Extracellular (Potential).|LRR 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.307G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533730	0.64972	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.56444	0.46;0.46	5.91	5.03	0.67393	.	0.120855	0.53938	D	0.000057	T	0.40595	0.1123	N	0.05050	-0.12	0.43703	D	0.996166	P;P	0.47191	0.868;0.891	P;P	0.48952	0.596;0.544	T	0.46400	-0.9194	10	0.46703	T	0.11	.	13.0652	0.59030	0.0:0.8389:0.1611:0.0	.	103;103	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	K	103;103;30	ENSP00000273261:E103K;ENSP00000373208:E103K	ENSP00000273261:E103K	E	-	1	0	LRIG1	66584731	1.000000	0.71417	0.993000	0.49108	0.253000	0.25986	2.651000	0.46674	1.494000	0.48533	0.655000	0.94253	GAG		0.438	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541		51	68	0	0	0	0.00361	0	51	68		
GXYLT2	727936	broad.mit.edu	37	3	73016856	73016856	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:73016856G>A	ENST00000389617.4	+	6	1296	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	379					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AGCACTCTATGAAGCAATACG	0.493																																						uc003dpg.2		NaN																	0					0						c.(1135-1137)GAA>AAA		glycosyltransferase 8 domain containing 4							119.0	112.0	115.0					3																	73016856		2046	4201	6247	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016856G>A	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1135G>A	3.37:g.73016856G>A	ENSP00000374268:p.Glu379Lys						p.E379K	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			6	1135	+			379			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.1135G>A	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923135	0.33908	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.21543	2.0;2.0	5.51	5.51	0.81932	.	0.092120	0.64402	D	0.000001	T	0.25568	0.0622	M	0.68317	2.08	0.54753	D	0.999984	B	0.29590	0.25	B	0.26202	0.067	T	0.08411	-1.0723	10	0.13470	T	0.59	.	19.7923	0.96464	0.0:0.0:1.0:0.0	.	379	A0PJZ3	GXLT2_HUMAN	K	379;140	ENSP00000374268:E379K;ENSP00000420426:E140K	ENSP00000374268:E379K	E	+	1	0	GXYLT2	73099546	1.000000	0.71417	0.996000	0.52242	0.322000	0.28314	9.565000	0.98154	2.752000	0.94435	0.557000	0.71058	GAA		0.493	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1		NM_001080393		9	38	0	0	0	0.008291	0	9	38		
CGGBP1	8545	broad.mit.edu	37	3	88104904	88104904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:88104904C>T	ENST00000398392.2	-	1	1555	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000462901.1_Missense_Mutation_p.E75K|CGGBP1_ENST00000482016.1_Missense_Mutation_p.E75K|CGGBP1_ENST00000309534.6_Missense_Mutation_p.E75K			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	75					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TTCTGCTCTTCAAATTCTGCC	0.453																																						uc003dqs.2		NaN																	0					0						c.(223-225)GAA>AAA		CGG triplet repeat binding protein 1							93.0	94.0	93.0					3																	88104904		1932	4126	6058	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104904C>T	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.223G>A	3.37:g.88104904C>T	ENSP00000381429:p.Glu75Lys					CGGBP1_uc003dqt.2_Missense_Mutation_p.E75K|CGGBP1_uc003dqu.2_Missense_Mutation_p.E75K	p.E75K	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	4	735	-		Lung NSC(201;0.0283)	75					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.223G>A	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936006	0.73442	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.84	5.84	0.93424	.	0.000000	0.40222	U	0.001148	T	0.60599	0.2281	N	0.24115	0.695	0.44424	D	0.99734	P	0.49696	0.927	P	0.56563	0.801	T	0.61569	-0.7036	9	0.52906	T	0.07	-24.471	17.366	0.87364	0.0:1.0:0.0:0.0	.	75	Q9UFW8	CGBP1_HUMAN	K	75	.	ENSP00000381428:E75K	E	-	1	0	CGGBP1	88187594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.986000	0.63851	2.778000	0.95560	0.558000	0.71614	GAA		0.453	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1		NM_001008390		15	112	0	0	0	0.003163	0	15	112		
TMEM45A	55076	broad.mit.edu	37	3	100277340	100277340	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100277340C>T	ENST00000323523.4	+	4	808	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TMEM45A_ENST00000403410.1_Silent_p.L181L	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	165						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TGACAGGCCTCGTTGCCTTCC	0.502																																						uc003dtz.1		NaN																	0				skin(2)|ovary(1)	3						c.(493-495)CTC>CTT		transmembrane protein 45A							222.0	197.0	205.0					3																	100277340		2203	4300	6503	SO:0001819	synonymous_variant	55076					integral to membrane		g.chr3:100277340C>T	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.495C>T	3.37:g.100277340C>T						TMEM45A_uc003dua.1_Silent_p.L181L	p.L165L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN			4	808	+			165			Helical; (Potential).		Q53YW5	Silent	SNP	ENST00000323523.4	37	c.495C>T	CCDS2937.1																																																																																				0.502	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1		NM_018004		32	178	0	0	0	0.008361	0	32	178		
GPR128	84873	broad.mit.edu	37	3	100413798	100413798	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100413798G>A	ENST00000273352.3	+	16	2615	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.E488K	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	783					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCCGAGTACTGAGGAAATCAC	0.433																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NaN																	0				ovary(3)|skin(1)	4						c.(2347-2349)GAG>AAG		G protein-coupled receptor 128 precursor							121.0	115.0	117.0					3																	100413798		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100413798G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2347G>A	3.37:g.100413798G>A	ENSP00000273352:p.Glu783Lys					GPR128_uc011bhc.1_Missense_Mutation_p.E484K|GPR128_uc003dud.2_Missense_Mutation_p.E306K	p.E783K	NM_032787	NP_116176	Q96K78	GP128_HUMAN			16	2615	+			783			Cytoplasmic (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.2347G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300224	0.60195	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.43688	0.94;1.36	5.74	0.738	0.18319	.	0.396451	0.23688	N	0.045549	T	0.31734	0.0806	M	0.64997	1.995	0.21527	N	0.999651	B;B	0.23540	0.022;0.087	B;B	0.20577	0.03;0.03	T	0.20009	-1.0288	10	0.18276	T	0.48	.	5.4197	0.16394	0.3044:0.1325:0.5631:0.0	.	488;783	E9PHI0;Q96K78	.;GP128_HUMAN	K	783;488	ENSP00000273352:E783K;ENSP00000419788:E488K	ENSP00000273352:E783K	E	+	1	0	GPR128	101896488	0.515000	0.26210	0.032000	0.17829	0.018000	0.09664	0.553000	0.23391	0.093000	0.17368	-0.140000	0.14226	GAG		0.433	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1				18	69	0	0	0	0.00499	0	18	69		
IMPG2	50939	broad.mit.edu	37	3	100961751	100961751	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:100961751G>A	ENST00000193391.7	-	14	2990	c.2803C>T	c.(2803-2805)Ctg>Ttg	p.L935L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	935	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TAGGGAACCAGCTACAATATA	0.403																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2803-2805)CTG>TTG		interphotoreceptor matrix proteoglycan 2							62.0	60.0	61.0					3																	100961751		2203	4300	6503	SO:0001630	splice_region_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961751G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2803-1C>T	3.37:g.100961751G>A						IMPG2_uc011bhe.1_Silent_p.L798L	p.L935L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			14	3006	-			935			Extracellular (Potential).|SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.2803C>T	CCDS2940.1																																																																																				0.403	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			Silent	25	69	0	0	0	0.003954	0	25	69		
PHLDB2	90102	broad.mit.edu	37	3	111667878	111667878	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111667878G>A	ENST00000431670.2	+	10	2998	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E820K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E820K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E863K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E847K|PHLDB2_ENST00000495180.1_Intron	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	863						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTGCCACTGAGCCTGCCAC	0.478																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(2587-2589)GAG>AAG		pleckstrin homology-like domain, family B,							59.0	54.0	55.0					3																	111667878		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111667878G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2587G>A	3.37:g.111667878G>A	ENSP00000405405:p.Glu863Lys					PHLDB2_uc003dyc.2_Missense_Mutation_p.E847K|PHLDB2_uc003dyd.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyg.2_Missense_Mutation_p.E863K|PHLDB2_uc003dyh.2_Missense_Mutation_p.E820K|PHLDB2_uc003dyi.2_Intron	p.E863K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			10	2998	+			863					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.2587G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899558	0.52227	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.97	5.97	0.96955	.	0.407171	0.28125	N	0.016515	T	0.39860	0.1094	L	0.34521	1.04	0.44562	D	0.997527	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.09818	-1.0657	10	0.27082	T	0.32	.	17.3555	0.87334	0.0:0.0:1.0:0.0	.	863;820;847	Q86SQ0;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.	K	847;847;863;820;820;863;820	ENSP00000377500:E847K;ENSP00000405405:E863K;ENSP00000405292:E820K;ENSP00000418296:E820K;ENSP00000377502:E863K;ENSP00000418319:E820K	ENSP00000352764:E847K	E	+	1	0	PHLDB2	113150568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.278000	0.65592	2.836000	0.97738	0.655000	0.94253	GAG		0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		16	39	0	0	0	0.004007	0	16	39		
GCSAM	257144	broad.mit.edu	37	3	111851948	111851948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:111851948C>G	ENST00000308910.4	-	1	204	c.20G>C	c.(19-21)aGa>aCa	p.R7T	GCSAM_ENST00000484193.1_Missense_Mutation_p.R7T|RP11-757F18.5_ENST00000563632.1_RNA	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	7					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CCTGTTTTCTCTCAGCAGAGA	0.502																																						uc003dys.1		NaN																	0					0						c.(19-21)AGA>ACA		germinal center expressed transcript 2 isoform							181.0	173.0	176.0					3																	111851948		2203	4300	6503	SO:0001583	missense	257144					mitochondrion		g.chr3:111851948C>G	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.20G>C	3.37:g.111851948C>G	ENSP00000309487:p.Arg7Thr					GCET2_uc003dyt.1_5'UTR	p.R7T	NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			1	170	-			7					C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.20G>C	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599398	0.46318	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387	.	.	.	4.37	3.49	0.39957	.	0.172141	0.28659	N	0.014572	T	0.38108	0.1028	L	0.32530	0.975	0.09310	N	1	D	0.55385	0.971	P	0.55455	0.776	T	0.11203	-1.0597	9	0.87932	D	0	-1.3777	8.2695	0.31836	0.0:0.8939:0.0:0.1061	.	7	Q8N6F7	GCET2_HUMAN	T	7	.	ENSP00000309487:R7T	R	-	2	0	GCET2	113334638	0.034000	0.19679	0.119000	0.21687	0.707000	0.40811	1.666000	0.37460	1.428000	0.47296	0.650000	0.86243	AGA		0.502	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2		NM_152785		30	169	0	0	0	0.002836	0	30	169		
BTLA	151888	broad.mit.edu	37	3	112185019	112185019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:112185019G>C	ENST00000334529.5	-	5	1008	c.806C>G	c.(805-807)tCa>tGa	p.S269*	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Nonsense_Mutation_p.S221*	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	269					immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGCCAGTCTTGAGTTCGGTCC	0.418																																						uc003dza.3		NaN																	0					0						c.(805-807)TCA>TGA		B and T lymphocyte associated isoform 1							197.0	187.0	190.0					3																	112185019		2203	4300	6503	SO:0001587	stop_gained	151888				T cell costimulation		receptor activity	g.chr3:112185019G>C	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.806C>G	3.37:g.112185019G>C	ENSP00000333919:p.Ser269*					BTLA_uc003dzb.3_Nonsense_Mutation_p.S221*	p.S269*	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN			5	1009	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	269			Cytoplasmic (Potential).		Q3B831|Q3HS85|Q6ZNH9	Nonsense_Mutation	SNP	ENST00000334529.5	37	c.806C>G	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251391	0.39797	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	.	.	.	5.02	3.19	0.36642	.	0.786555	0.10998	N	0.610877	.	.	.	.	.	.	0.45762	D	0.998658	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.5796	7.8683	0.29549	0.1924:0.0:0.8076:0.0	.	.	.	.	X	269;221	.	ENSP00000333919:S269X	S	-	2	0	BTLA	113667709	0.947000	0.32204	0.219000	0.23793	0.007000	0.05969	1.404000	0.34623	1.348000	0.45733	0.655000	0.94253	TCA		0.418	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1		NM_181780		35	90	0	0	0	0.004289	0	35	90		
KIAA2018	205717	broad.mit.edu	37	3	113378767	113378767	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:113378767G>C	ENST00000478658.1	-	5	1779	c.1762C>G	c.(1762-1764)Cag>Gag	p.Q588E	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q588E			Q68DE3	K2018_HUMAN	KIAA2018	588						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAAGGATTCTGATTAGCAGCC	0.478																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(1762-1764)CAG>GAG		hypothetical protein LOC205717							194.0	196.0	196.0					3																	113378767		1981	4152	6133	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378767G>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1762C>G	3.37:g.113378767G>C	ENSP00000420721:p.Gln588Glu					KIAA2018_uc003eal.2_Missense_Mutation_p.Q532E	p.Q588E	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2173	-			588					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1762C>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095046	0.56075	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.21031	2.03;2.03	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.34521	1.04	0.51767	D	0.999936	P	0.51057	0.941	B	0.43754	0.43	T	0.00992	-1.1488	10	0.33141	T	0.24	-5.4483	19.2112	0.93755	0.0:0.0:1.0:0.0	.	588	Q68DE3	K2018_HUMAN	E	588	ENSP00000320794:Q588E;ENSP00000420721:Q588E	ENSP00000320794:Q588E	Q	-	1	0	KIAA2018	114861457	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.306000	0.78905	2.520000	0.84964	0.650000	0.86243	CAG		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		21	102	0	0	0	0.008871	0	21	102		
RABL3	285282	broad.mit.edu	37	3	120461334	120461334	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:120461334C>T	ENST00000273375.3	-	1	50	c.21G>A	c.(19-21)gtG>gtA	p.V7V	RABL3_ENST00000483733.1_Silent_p.V7V|RABL3_ENST00000491398.1_5'UTR|GTF2E1_ENST00000283875.5_5'Flank	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	7	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CCAGTACCTTCACCCGATCCA	0.567																																						uc003edx.2		NaN																	0					0						c.(19-21)GTG>GTA		RAB, member of RAS oncogene family-like 3							136.0	107.0	116.0					3																	120461334		2203	4300	6503	SO:0001819	synonymous_variant	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120461334C>T	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.21G>A	3.37:g.120461334C>T						GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank	p.V7V	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	1	51	-			7			Small GTPase-like.		Q8WUD3	Silent	SNP	ENST00000273375.3	37	c.21G>A	CCDS3001.1																																																																																				0.567	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1		NM_173825		9	76	0	0	0	0.004482	0	9	76		
SLC15A2	6565	broad.mit.edu	37	3	121630438	121630438	+	Missense_Mutation	SNP	C	C	G	rs138471341		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:121630438C>G	ENST00000489711.1	+	4	741	c.353C>G	c.(352-354)tCc>tGc	p.S118C	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	118					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.S118F(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATCTATCTCTCCTTGGTGTAT	0.418																																						uc003eep.2		NaN																	1	Substitution - Missense(1)	p.S118F(1)	skin(1)	skin(1)	1						c.(352-354)TCC>TGC		peptide transporter 2 isoform a	Cefadroxil(DB01140)						213.0	170.0	184.0					3																	121630438		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121630438C>G	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.353C>G	3.37:g.121630438C>G	ENSP00000417085:p.Ser118Cys					SLC15A2_uc011bjn.1_Intron	p.S118C	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	4	506	+			118			Helical; (Potential).		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.353C>G	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403687	0.83230	.	.	ENSG00000163406	ENST00000489711;ENST00000469013	T;T	0.07114	3.22;3.22	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);PTR2 family proton/oligopeptide symporter, conserved site (1);	0.110120	0.64402	D	0.000004	T	0.32164	0.0820	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02190	-1.1198	10	0.87932	D	0	-13.9701	16.517	0.84303	0.0:1.0:0.0:0.0	.	118	Q16348	S15A2_HUMAN	C	118;56	ENSP00000417085:S118C;ENSP00000418704:S56C	ENSP00000418704:S56C	S	+	2	0	SLC15A2	123113128	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.753000	0.74904	2.770000	0.95276	0.655000	0.94253	TCC		0.418	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1		NM_021082		22	30	0	0	0	0.00333	0	22	30		
SLC41A3	54946	broad.mit.edu	37	3	125735707	125735707	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:125735707G>C	ENST00000315891.6	-	7	995	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	SLC41A3_ENST00000360370.4_Missense_Mutation_p.L253V|SLC41A3_ENST00000508835.1_Missense_Mutation_p.L136V|SLC41A3_ENST00000346785.5_Missense_Mutation_p.L217V|SLC41A3_ENST00000383598.2_Missense_Mutation_p.L227V	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGCGGCGTCAGATACCGACTA	0.582																																						uc003eij.2		NaN																	0					0						c.(757-759)CTG>GTG		solute carrier family 41, member 3 isoform 1							72.0	60.0	64.0					3																	125735707		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125735707G>C		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.757C>G	3.37:g.125735707G>C	ENSP00000326070:p.Leu253Val					SLC41A3_uc003eii.2_Missense_Mutation_p.L227V|SLC41A3_uc003eil.2_Missense_Mutation_p.L253V|SLC41A3_uc003eik.2_Missense_Mutation_p.L217V|SLC41A3_uc011bkh.1_Missense_Mutation_p.L136V|SLC41A3_uc010hsd.1_Missense_Mutation_p.L268V	p.L253V	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	7	983	-			253			Helical; (Potential).		A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.757C>G	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725178	0.30593	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835;ENST00000514677	T;T;T;T;T	0.32515	1.5;1.48;1.49;1.45;1.54	5.52	3.66	0.41972	.	0.072568	0.56097	D	0.000038	T	0.33585	0.0868	L	0.36672	1.1	0.50813	D	0.999892	D;P;P;D;D;D	0.60160	0.965;0.595;0.939;0.987;0.978;0.964	B;B;B;P;P;P	0.58172	0.426;0.192;0.426;0.834;0.687;0.629	T	0.04413	-1.0953	10	0.20519	T	0.43	4.9022	8.5426	0.33402	0.0821:0.0:0.766:0.1519	.	136;253;253;217;253;227	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	V	253;217;227;244;253;136;268	ENSP00000353533:L253V;ENSP00000264471:L217V;ENSP00000373092:L227V;ENSP00000326070:L253V;ENSP00000422828:L268V	ENSP00000326070:L253V	L	-	1	2	SLC41A3	127218397	1.000000	0.71417	0.061000	0.19648	0.014000	0.08584	2.351000	0.44071	1.334000	0.45468	0.591000	0.81541	CTG		0.582	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1		NM_017836		3	41	0	0	0	0.004672	0	3	41		
ZXDC	79364	broad.mit.edu	37	3	126193905	126193905	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:126193905G>C	ENST00000389709.3	-	1	857	c.804C>G	c.(802-804)ttC>ttG	p.F268L	ZXDC_ENST00000336332.5_Missense_Mutation_p.F268L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	268					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCTCGCACTTGAACAGGCTCT	0.627																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(802-804)TTC>TTG		ZXD family zinc finger C isoform 1							26.0	30.0	28.0					3																	126193905		2201	4300	6501	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126193905G>C	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.804C>G	3.37:g.126193905G>C	ENSP00000374359:p.Phe268Leu					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.F268L	p.F268L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	858	-			268			C2H2-type 4.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.804C>G	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990793	0.74589	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.21932	1.98;1.98	3.99	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.126603	0.52532	U	0.000066	T	0.30135	0.0755	L	0.41492	1.28	0.42611	D	0.993311	D;D	0.65815	0.994;0.995	D;D	0.65010	0.915;0.931	T	0.03534	-1.1027	10	0.72032	D	0.01	-16.8512	6.9196	0.24380	0.2213:0.0:0.7787:0.0	.	268;268	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	L	268	ENSP00000374359:F268L;ENSP00000337694:F268L	ENSP00000337694:F268L	F	-	3	2	ZXDC	127676595	1.000000	0.71417	0.985000	0.45067	0.891000	0.51852	1.947000	0.40293	0.785000	0.33685	0.491000	0.48974	TTC		0.627	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		3	13	0	0	0	0.000248	0	3	13		
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129214429C>A	ENST00000348417.2	+	18	2264	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Silent_p.L780L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000431818.2_Silent_p.L579L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	729					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACACCGACCTCTGCATGTTTG	0.537																																						uc003emm.2		NaN																	0				ovary(1)|skin(1)	2						c.(2185-2187)CTC>CTA		WD repeat domain 10 isoform 2							123.0	110.0	114.0					3																	129214429		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214429C>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2187C>A	3.37:g.129214429C>A						IFT122_uc003eml.2_Silent_p.L780L|IFT122_uc003emn.2_Silent_p.L670L|IFT122_uc003emo.2_Silent_p.L618L|IFT122_uc003emp.2_Silent_p.L579L|IFT122_uc010htc.2_Silent_p.L721L|IFT122_uc011bky.1_Silent_p.L520L|IFT122_uc003emq.2_Silent_p.L569L|IFT122_uc003emr.2_Silent_p.L481L|IFT122_uc011bla.1_Silent_p.L502L|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Silent_p.L110L|IFT122_uc011bkx.1_Silent_p.L569L|IFT122_uc010htd.1_Silent_p.L208L	p.L729L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			18	2393	+			729					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.2187C>A	CCDS3061.1																																																																																				0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1		NM_018262		20	48	1	0	2.27731e-05	0.001882	2.73277e-05	20	48		
IFT122	55764	broad.mit.edu	37	3	129231193	129231193	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129231193C>G	ENST00000348417.2	+	24	3002	c.2925C>G	c.(2923-2925)ttC>ttG	p.F975L	IFT122_ENST00000296266.3_Missense_Mutation_p.F1026L|IFT122_ENST00000504021.1_Missense_Mutation_p.F852L|IFT122_ENST00000347300.2_Missense_Mutation_p.F916L|IFT122_ENST00000440957.2_Missense_Mutation_p.F766L|IFT122_ENST00000349441.2_Missense_Mutation_p.F865L|IFT122_ENST00000507564.1_Missense_Mutation_p.F968L|IFT122_ENST00000431818.2_Missense_Mutation_p.F825L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	975					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACTCTTTTCAACATCTCCA	0.537																																						uc003emm.2		NaN																	0				ovary(1)|skin(1)	2						c.(2923-2925)TTC>TTG		WD repeat domain 10 isoform 2							215.0	196.0	202.0					3																	129231193		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129231193C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2925C>G	3.37:g.129231193C>G	ENSP00000324005:p.Phe975Leu					IFT122_uc003eml.2_Missense_Mutation_p.F1026L|IFT122_uc003emn.2_Missense_Mutation_p.F916L|IFT122_uc003emo.2_Missense_Mutation_p.F865L|IFT122_uc003emp.2_Missense_Mutation_p.F825L|IFT122_uc010htc.2_Missense_Mutation_p.F968L|IFT122_uc011bky.1_Missense_Mutation_p.F766L|IFT122_uc003emq.2_Missense_Mutation_p.F815L|IFT122_uc003emr.2_Missense_Mutation_p.F728L|IFT122_uc011bla.1_Missense_Mutation_p.F749L|IFT122_uc010hte.2_Missense_Mutation_p.F301L|IFT122_uc003ems.2_Missense_Mutation_p.F357L|IFT122_uc011bkx.1_Missense_Mutation_p.F816L	p.F975L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			24	3131	+			975					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2925C>G	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579911	0.65992	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.66280	0.49;-0.2;-0.02;-0.01;0.68;0.64;0.43;0.02	5.53	5.53	0.82687	.	0.049277	0.85682	D	0.000000	T	0.75532	0.3862	L	0.55990	1.75	0.80722	D	1	D;P;B;B;B;B;B;B;D;D	0.61697	0.99;0.936;0.144;0.208;0.185;0.296;0.185;0.281;0.982;0.99	D;P;B;B;B;B;B;B;D;D	0.72982	0.979;0.629;0.021;0.108;0.088;0.117;0.054;0.117;0.952;0.979	T	0.73408	-0.3992	10	0.45353	T	0.12	-29.2485	17.8246	0.88661	0.0:1.0:0.0:0.0	.	766;301;968;363;852;816;865;916;975;1026	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	L	916;1026;968;916;825;852;865;975;816;766	ENSP00000323973:F916L;ENSP00000296266:F1026L;ENSP00000425536:F968L;ENSP00000410946:F825L;ENSP00000422179:F852L;ENSP00000324165:F865L;ENSP00000324005:F975L;ENSP00000401569:F766L	ENSP00000296266:F1026L	F	+	3	2	IFT122	130713883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.321000	0.79088	2.882000	0.98803	0.655000	0.94253	TTC		0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1		NM_018262		45	201	0	0	0	0.00361	0	45	201		
PLXND1	23129	broad.mit.edu	37	3	129290635	129290635	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:129290635G>C	ENST00000324093.4	-	16	3308	c.3130C>G	c.(3130-3132)Ccg>Gcg	p.P1044A	PLXND1_ENST00000393239.1_Missense_Mutation_p.P1044A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1044	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACAGGCACCGGAGCCGGCAGG	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(3130-3132)CCG>GCG		plexin D1 precursor							32.0	32.0	32.0					3																	129290635		2201	4296	6497	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290635G>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3130C>G	3.37:g.129290635G>C	ENSP00000317128:p.Pro1044Ala						p.P1044A	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			16	3230	-			1044			Extracellular (Potential).|IPT/TIG 2.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3130C>G	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.478328	0.01035	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.76968	-1.06;-1.06	4.48	-0.28	0.12886	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.161710	0.06373	N	0.713948	T	0.60117	0.2244	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36138	-0.9760	10	0.20519	T	0.43	.	2.4413	0.04495	0.0934:0.2459:0.2131:0.4476	.	1044	Q9Y4D7	PLXD1_HUMAN	A	1044	ENSP00000317128:P1044A;ENSP00000376931:P1044A	ENSP00000317128:P1044A	P	-	1	0	PLXND1	130773325	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	0.121000	0.15667	0.020000	0.15106	-0.321000	0.08615	CCG		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		5	27	0	0	0	0.000602	0	5	27		
MSL2	55167	broad.mit.edu	37	3	135913868	135913868	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:135913868C>T	ENST00000309993.2	-	1	820	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	30	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTGTTAATCTCAGTAAACGCC	0.493																																						uc003eqx.1		NaN																	0				central_nervous_system(1)	1						c.(88-90)GAG>AAG		ring finger protein 184 isoform 1							188.0	198.0	195.0					3																	135913868		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913868C>T	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.88G>A	3.37:g.135913868C>T	ENSP00000311827:p.Glu30Lys					MSL2_uc011bmb.1_5'Flank	p.E30K	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN			1	821	-			30					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.88G>A	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269297	0.80469	.	.	ENSG00000174579	ENST00000309993	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	T	0.72326	0.3446	L	0.47190	1.495	0.80722	D	1	D	0.64830	0.994	D	0.62955	0.909	T	0.73474	-0.3971	9	0.52906	T	0.07	-6.4897	17.2722	0.87105	0.0:1.0:0.0:0.0	.	30	Q9HCI7	MSL2_HUMAN	K	30	.	ENSP00000311827:E30K	E	-	1	0	MSL2	137396558	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.354000	0.79424	2.427000	0.82271	0.561000	0.74099	GAG		0.493	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1		NM_018133		99	160	0	0	0	0.00361	0	99	160		
ESYT3	83850	broad.mit.edu	37	3	138195290	138195290	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:138195290G>A	ENST00000389567.4	+	22	2766	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	860	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTAGGTACTGATTGACTTAT	0.353																																						uc003esk.2		NaN																	0					0						c.(2578-2580)CTG>CTA		family with sequence similarity 62 (C2 domain							151.0	139.0	143.0					3																	138195290		1846	4099	5945	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138195290G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2580G>A	3.37:g.138195290G>A							p.L860L	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			22	2806	+			860			C2 3.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.2580G>A	CCDS3101.2																																																																																				0.353	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1		NM_031913		4	55	0	0	0	0.001168	0	4	55		
MRPS22	56945	broad.mit.edu	37	3	139063001	139063001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139063001G>C	ENST00000495075.1	+	3	565	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	MRPS22_ENST00000478464.1_5'Flank|MRPS22_ENST00000310776.4_Missense_Mutation_p.E45Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.E45Q			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	45						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTGCTCTTTCGAGATGGGGCT	0.627																																						uc003etb.2		NaN																	0				ovary(2)|skin(1)	3						c.(133-135)GAG>CAG		mitochondrial ribosomal protein S22							19.0	21.0	20.0					3																	139063001		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139063001G>C	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.133G>C	3.37:g.139063001G>C	ENSP00000418008:p.Glu45Gln					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E45Q|MRPS22_uc003ete.2_5'Flank	p.E45Q	NM_020191	NP_064576	P82650	RT22_HUMAN			1	141	+			45					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.133G>C	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834664	0.32421	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	D;D;D;T	0.83673	-1.75;-1.75;-1.75;-1.2	4.01	3.13	0.36017	.	0.633406	0.14698	N	0.303734	T	0.68229	0.2978	N	0.19112	0.55	0.09310	N	1	P;B	0.34724	0.465;0.335	B;B	0.33960	0.173;0.084	T	0.55903	-0.8067	10	0.27082	T	0.32	0.225	7.7134	0.28690	0.118:0.0:0.882:0.0	.	45;45	G5E9V5;P82650	.;RT22_HUMAN	Q	45;45;45;41	ENSP00000418008:E45Q;ENSP00000310785:E45Q;ENSP00000418233:E45Q;ENSP00000419920:E41Q	ENSP00000310785:E45Q	E	+	1	0	MRPS22	140545691	0.029000	0.19370	0.007000	0.13788	0.008000	0.06430	2.509000	0.45459	1.034000	0.39945	0.591000	0.81541	GAG		0.627	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1		NM_020191		6	23	0	0	0	0.001168	0	6	23		
COPB2	9276	broad.mit.edu	37	3	139092111	139092111	+	Silent	SNP	C	C	T	rs566517940		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:139092111C>T	ENST00000333188.5	-	9	1219	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	COPB2_ENST00000507777.1_Silent_p.K317K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	346					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGCCCATATCCTTTACTGCCA	0.438																																						uc003etf.3		NaN																	0				ovary(2)	2						c.(1036-1038)AAG>AAA		coatomer protein complex, subunit beta 2 (beta							206.0	181.0	189.0					3																	139092111		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139092111C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1038G>A	3.37:g.139092111C>T						COPB2_uc011bmv.1_Silent_p.K317K|COPB2_uc010hui.2_Silent_p.K317K	p.K346K	NM_004766	NP_004757	P35606	COPB2_HUMAN			9	1168	-			346					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.1038G>A	CCDS3108.1																																																																																				0.438	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2		NM_004766		7	104	0	0	0	0.004482	0	7	104		
SPSB4	92369	broad.mit.edu	37	3	140785627	140785627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:140785627C>G	ENST00000310546.2	+	2	1425	c.681C>G	c.(679-681)atC>atG	p.I227M		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	227	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGCGCTACATCAACGGCCTTG	0.637																																						uc003ett.2		NaN																	0					0						c.(679-681)ATC>ATG		splA/ryanodine receptor domain and SOCS box							68.0	64.0	65.0					3																	140785627		2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785627C>G		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.681C>G	3.37:g.140785627C>G	ENSP00000311609:p.Ile227Met					SPSB4_uc010hum.2_Missense_Mutation_p.I227M	p.I227M	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN			2	935	+			227			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000310546.2	37	c.681C>G	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856721	0.51376	.	.	ENSG00000175093	ENST00000310546	T	0.44083	0.93	5.21	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.113620	0.64402	D	0.000013	T	0.57917	0.2086	M	0.89904	3.07	0.49798	D	0.999821	P	0.40909	0.732	P	0.46796	0.527	T	0.66152	-0.5995	10	0.56958	D	0.05	-32.4771	11.9522	0.52961	0.0:0.8986:0.0:0.1014	.	227	Q96A44	SPSB4_HUMAN	M	227	ENSP00000311609:I227M	ENSP00000311609:I227M	I	+	3	3	SPSB4	142268317	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.930000	0.28858	2.424000	0.82194	0.563000	0.77884	ATC		0.637	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1		NM_080862		14	37	0	0	0	0.008871	0	14	37		
ATR	545	broad.mit.edu	37	3	142168301	142168301	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:142168301C>G	ENST00000350721.4	-	47	8026	c.7905G>C	c.(7903-7905)caG>caC	p.Q2635H	XRN1_ENST00000392981.2_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000264951.4_5'Flank|ATR_ENST00000383101.3_Missense_Mutation_p.Q2571H|XRN1_ENST00000544157.1_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2635	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAAGATACATCTGGCATAGTA	0.333								Other conserved DNA damage response genes																														uc003eux.3		NaN																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7903-7905)CAG>CAC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							112.0	111.0	111.0					3																	142168301		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168301C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7905G>C	3.37:g.142168301C>G	ENSP00000343741:p.Gln2635His					XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR	p.Q2635H	NM_001184	NP_001175	Q13535	ATR_HUMAN			47	8027	-			2635			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7905G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481140	0.63849	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.80033	-1.33;-1.33	5.5	-3.01	0.05463	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.87617	2.895	0.53005	D	0.999964	D	0.89917	1.0	D	0.75484	0.986	D	0.89462	0.3737	10	0.72032	D	0.01	-13.8203	16.0308	0.80577	0.0:0.7309:0.0:0.2691	.	2635	Q13535	ATR_HUMAN	H	2635;2571	ENSP00000343741:Q2635H;ENSP00000372581:Q2571H	ENSP00000343741:Q2635H	Q	-	3	2	ATR	143650991	0.984000	0.35163	0.988000	0.46212	0.994000	0.84299	0.262000	0.18460	-0.458000	0.07023	-0.302000	0.09304	CAG		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		12	72	0	0	0	0.00245	0	12	72		
P2RY13	53829	broad.mit.edu	37	3	151046539	151046539	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151046539G>C	ENST00000325602.5	-	2	324	c.305C>G	c.(304-306)tCt>tGt	p.S102C	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	102					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTGTGAGTCAGAGAGGATTTT	0.468																																						uc003eyv.2		NaN																	0				ovary(3)|lung(1)	4						c.(304-306)TCT>TGT		purinergic receptor P2Y, G-protein coupled, 13							101.0	98.0	99.0					3																	151046539		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046539G>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.305C>G	3.37:g.151046539G>C	ENSP00000320376:p.Ser102Cys					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.S102C	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	326	-			102			Extracellular (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.305C>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705291	0.68615	.	.	ENSG00000181631	ENST00000325602	T	0.73047	-0.71	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.104801	0.64402	D	0.000010	D	0.83436	0.5254	M	0.67953	2.075	0.36781	D	0.884353	D	0.89917	1.0	D	0.79108	0.992	D	0.83820	0.0246	10	0.39692	T	0.17	-23.6321	19.9944	0.97379	0.0:0.0:1.0:0.0	.	102	Q9BPV8	P2Y13_HUMAN	C	102	ENSP00000320376:S102C	ENSP00000320376:S102C	S	-	2	0	P2RY13	152529229	0.998000	0.40836	0.963000	0.40424	0.966000	0.64601	3.662000	0.54510	2.720000	0.93068	0.557000	0.71058	TCT		0.468	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1		NM_023914		21	36	0	0	0	0.001882	0	21	36		
IGSF10	285313	broad.mit.edu	37	3	151154669	151154669	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:151154669G>A	ENST00000282466.3	-	6	7679	c.7680C>T	c.(7678-7680)atC>atT	p.I2560I	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2560	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCCCATGTGATTTCTGGCT	0.522																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7678-7680)ATC>ATT		immunoglobulin superfamily, member 10 precursor							73.0	67.0	69.0					3																	151154669		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154669G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7680C>T	3.37:g.151154669G>A						IGSF10_uc011bob.1_Silent_p.I587I|IGSF10_uc011boc.1_Silent_p.I539I	p.I2560I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7680	-			2560			Ig-like C2-type 12.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.7680C>T	CCDS3160.1																																																																																				0.522	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		15	57	0	0	0	0.00245	0	15	57		
MME	4311	broad.mit.edu	37	3	154834674	154834674	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:154834674G>A	ENST00000460393.1	+	7	673	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	MME_ENST00000492661.1_Missense_Mutation_p.E185K|MME_ENST00000360490.2_Missense_Mutation_p.E185K|MME_ENST00000493237.1_Missense_Mutation_p.E185K|MME_ENST00000462745.1_Missense_Mutation_p.E185K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	185					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTGGACAGCTGAAAAAGCTAT	0.284																																						uc010hvr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(553-555)GAA>AAA		membrane metallo-endopeptidase	Candoxatril(DB00616)						57.0	61.0	60.0					3																	154834674		2202	4297	6499	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834674G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.553G>A	3.37:g.154834674G>A	ENSP00000418525:p.Glu185Lys					MME_uc003fab.1_Missense_Mutation_p.E185K|MME_uc003fac.1_Missense_Mutation_p.E185K|MME_uc003fad.1_Missense_Mutation_p.E185K|MME_uc003fae.1_Missense_Mutation_p.E185K	p.E185K	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	764	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	185			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.553G>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657257	0.88154	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	6.06	6.06	0.98353	Peptidase M13 (1);	0.047911	0.85682	D	0.000000	D	0.87489	0.6190	L	0.45470	1.425	0.80722	D	1	D	0.63046	0.992	D	0.63381	0.914	D	0.87443	0.2396	10	0.62326	D	0.03	-30.5954	16.0307	0.80574	0.0:0.1335:0.8665:0.0	.	185	P08473	NEP_HUMAN	K	185	ENSP00000420389:E185K;ENSP00000418525:E185K;ENSP00000420101:E185K;ENSP00000419653:E185K;ENSP00000417079:E185K;ENSP00000353679:E185K	ENSP00000353679:E185K	E	+	1	0	MME	156317368	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.094000	0.76944	2.882000	0.98803	0.655000	0.94253	GAA		0.284	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902		12	35	0	0	0	0.001368	0	12	35		
GMPS	8833	broad.mit.edu	37	3	155633963	155633963	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:155633963C>T	ENST00000496455.2	+	9	1529	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	GMPS_ENST00000295920.7_Silent_p.I299I	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	398	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CAGAGCTCATCAGAAAGTTGA	0.403			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NaN		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				ovary(2)|lung(1)	3						c.(1192-1194)ATC>ATT		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						110.0	101.0	104.0					3																	155633963		1881	4116	5997	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155633963C>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1194C>T	3.37:g.155633963C>T						GMPS_uc011bom.1_Silent_p.I299I	p.I398I	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		9	1529	+			398					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.1194C>T	CCDS46941.1																																																																																				0.403	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2				36	84	0	0	0	0.007835	0	36	84		
SI	6476	broad.mit.edu	37	3	164735823	164735823	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:164735823T>C	ENST00000264382.3	-	29	3517	c.3455A>G	c.(3454-3456)tAt>tGt	p.Y1152C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1152	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCCATGTAATAGGGATGAAA	0.313										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3454-3456)TAT>TGT		sucrase-isomaltase	Acarbose(DB00284)						96.0	96.0	96.0					3																	164735823		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735823T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3455A>G	3.37:g.164735823T>C	ENSP00000264382:p.Tyr1152Cys	HNSCC(35;0.089)					p.Y1152C	NM_001041	NP_001032	P14410	SUIS_HUMAN			29	3517	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1152			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3455A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521609	0.64747	.	.	ENSG00000090402	ENST00000264382	D	0.85629	-2.01	5.17	5.17	0.71159	Glycoside hydrolase-type carbohydrate-binding (1);	0.060661	0.64402	D	0.000004	D	0.92391	0.7585	M	0.89904	3.07	0.39822	D	0.972855	D	0.89917	1.0	D	0.73708	0.981	D	0.93487	0.6832	10	0.87932	D	0	.	8.6457	0.34005	0.2903:0.0:0.0:0.7097	.	1152	P14410	SUIS_HUMAN	C	1152	ENSP00000264382:Y1152C	ENSP00000264382:Y1152C	Y	-	2	0	SI	166218517	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	5.705000	0.68355	2.171000	0.68590	0.402000	0.26972	TAT		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		7	64	0	0	0	0.004482	0	7	64		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				20	57	0	0	0	0.001523	0	20	57		
MCCC1	56922	broad.mit.edu	37	3	182763328	182763328	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182763328C>T	ENST00000265594.4	-	10	1102	c.956G>A	c.(955-957)gGg>gAg	p.G319E	MCCC1_ENST00000492597.1_Splice_Site_p.G210E|MCCC1_ENST00000539926.1_Splice_Site_p.G184E	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	319	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTCCACAGTCCCTAAAAGGTA	0.363																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(955-957)GGG>GAG		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						78.0	76.0	77.0					3																	182763328		2203	4300	6503	SO:0001630	splice_region_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182763328C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.956-1G>A	3.37:g.182763328C>T						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.G202E|MCCC1_uc003flg.2_Missense_Mutation_p.G210E|MCCC1_uc011bqp.1_Missense_Mutation_p.G272E|MCCC1_uc011bqq.1_Missense_Mutation_p.G210E	p.G319E	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		10	1093	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		319			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.956G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806511	0.90623	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75	5.63	5.63	0.86233	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98032	1.0377	10	0.87932	D	0	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	272;210;319	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	E	319;210;169;184;272;272	ENSP00000265594:G319E;ENSP00000419898:G210E;ENSP00000441253:G184E;ENSP00000420433:G272E	ENSP00000265594:G319E	G	-	2	0	MCCC1	184246022	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.480000	0.81109	2.644000	0.89710	0.563000	0.77884	GGG		0.363	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166	Missense_Mutation	13	54	0	0	0	0.001368	0	13	54		
MCF2L2	23101	broad.mit.edu	37	3	182923668	182923668	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:182923668G>C	ENST00000328913.3	-	25	3177	c.2880C>G	c.(2878-2880)atC>atG	p.I960M	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.I960M	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	960							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTACCTTTGATATTATTTT	0.368																																						uc003fli.1		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2878-2880)ATC>ATG		Rho family guanine-nucleotide exchange factor							78.0	82.0	81.0					3																	182923668		2202	4299	6501	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182923668G>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2880C>G	3.37:g.182923668G>C	ENSP00000328118:p.Ile960Met						p.I960M	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		25	2970	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		960					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2880C>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	0.768	-0.766649	0.02974	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.22945	1.93;1.93	4.42	-8.85	0.00799	Pleckstrin homology-type (1);	0.435794	0.23979	N	0.042697	T	0.12860	0.0312	L	0.51422	1.61	0.09310	N	0.999993	B	0.13145	0.007	B	0.08055	0.003	T	0.09596	-1.0667	10	0.29301	T	0.29	.	2.5959	0.04854	0.177:0.4488:0.1575:0.2168	.	960	Q86YR7	MF2L2_HUMAN	M	960	ENSP00000328118:I960M;ENSP00000420070:I960M	ENSP00000328118:I960M	I	-	3	3	MCF2L2	184406362	0.001000	0.12720	0.006000	0.13384	0.009000	0.06853	-0.660000	0.05317	-1.715000	0.01389	-0.414000	0.06135	ATC		0.368	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078		10	21	0	0	0	0.001368	0	10	21		
KLHL6	89857	broad.mit.edu	37	3	183225916	183225916	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183225916G>A	ENST00000341319.3	-	3	875	c.840C>T	c.(838-840)ctC>ctT	p.L280L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	280					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACTGCCTGATGAGAGGATCTG	0.527																																						uc003flr.2		NaN																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(838-840)CTC>CTT		kelch-like 6							113.0	106.0	108.0					3																	183225916		2203	4300	6503	SO:0001819	synonymous_variant	89857							g.chr3:183225916G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.840C>T	3.37:g.183225916G>A						KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.L278L	p.L280L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		3	898	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		280					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.840C>T	CCDS3245.2																																																																																				0.527	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446		28	66	0	0	0	0.005443	0	28	66		
ECE2	9718	broad.mit.edu	37	3	183967544	183967544	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:183967544G>T	ENST00000402825.3	+	1	62	c.62G>T	c.(61-63)cGc>cTc	p.R21L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_5'Flank|ECE2_ENST00000324557.4_Missense_Mutation_p.R21L|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000455059.1_5'Flank|ALG3_ENST00000397676.3_5'Flank	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	21	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCGGGTACCGCGAAGTCGAG	0.667											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3		NaN																	0				ovary(2)|skin(2)	4						c.(61-63)CGC>CTC		endothelin converting enzyme 2 isoform A							42.0	42.0	42.0					3																	183967544		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183967544G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.62G>T	3.37:g.183967544G>T	ENSP00000384223:p.Arg21Leu		OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.R21L	p.R21L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	100	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		21			Cytoplasmic (Potential).|Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.62G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277803	0.59758	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.61627	0.09;0.09	5.57	5.57	0.84162	.	.	.	.	.	T	0.45135	0.1327	L	0.32530	0.975	0.80722	D	1	B;B	0.27013	0.031;0.166	B;B	0.24269	0.014;0.052	T	0.36962	-0.9726	9	0.40728	T	0.16	0.2749	10.7878	0.46415	0.0865:0.0:0.9135:0.0	.	21;21	O60344;O60344-4	ECE2_HUMAN;.	L	21	ENSP00000314295:R21L;ENSP00000384223:R21L	ENSP00000314295:R21L	R	+	2	0	ECE2	185450238	0.254000	0.23992	0.636000	0.29352	0.647000	0.38526	3.745000	0.55119	2.781000	0.95711	0.591000	0.81541	CGC		0.667	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		8	56	1	0	0.00307968	0.00308	0.00364399	8	56		
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:184870595G>C	ENST00000335012.2	-	1	207	c.17C>G	c.(16-18)tCg>tGg	p.S6W		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						uc003fpd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(16-18)TCG>TGG		hypothetical protein LOC285382							16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382							g.chr3:184870595G>C		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>G	3.37:g.184870595G>C	ENSP00000334974:p.Ser6Trp						p.S6W	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	208	-			6					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.17C>G	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453691	0.12283	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.22936	0.0554	N	0.08118	0	0.38949	D	0.958313	P	0.37688	0.605	B	0.28849	0.095	T	0.18023	-1.0350	9	0.48119	T	0.1	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	W	6	.	ENSP00000334974:S6W	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266		3	14	0	0	0	0.000248	0	3	14		
DGKG	1608	broad.mit.edu	37	3	185879433	185879433	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:185879433T>C	ENST00000265022.3	-	24	2775	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	DGKG_ENST00000344484.4_Missense_Mutation_p.M721V|DGKG_ENST00000544847.1_Missense_Mutation_p.M687V|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Missense_Mutation_p.M707V	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	746					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACTTGCATTGGCAGCAGC	0.483																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2236-2238)ATG>GTG		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						109.0	98.0	101.0					3																	185879433		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185879433T>C	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2236A>G	3.37:g.185879433T>C	ENSP00000265022:p.Met746Val					DGKG_uc003fqb.2_Missense_Mutation_p.M707V|DGKG_uc003fqc.2_Missense_Mutation_p.M721V|DGKG_uc011brx.1_Missense_Mutation_p.M687V	p.M746V	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	24	2773	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		746					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.2236A>G	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082824	0.36758	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.52	3.34	0.38264	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.48362	1.52	0.52099	D	0.999941	P;P;D;P	0.53312	0.812;0.931;0.959;0.565	B;P;P;B	0.54346	0.421;0.55;0.749;0.401	T	0.12604	-1.0541	10	0.66056	D	0.02	.	9.5435	0.39266	0.1579:0.0:0.0:0.8421	.	687;721;707;746	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	V	746;721;707;687	ENSP00000265022:M746V;ENSP00000339777:M721V;ENSP00000371599:M707V;ENSP00000440507:M687V	ENSP00000265022:M746V	M	-	1	0	DGKG	187362127	1.000000	0.71417	0.860000	0.33809	0.811000	0.45836	7.739000	0.84976	0.756000	0.33013	-0.691000	0.03719	ATG		0.483	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				8	65	0	0	0	0.006214	0	8	65		
ACAP2	23527	broad.mit.edu	37	3	195102746	195102746	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:195102746C>A	ENST00000326793.6	-	3	347	c.117G>T	c.(115-117)gtG>gtT	p.V39V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	39	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TACAAAGTTTCACAAGCTGAA	0.338																																						uc003fun.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(115-117)GTG>GTT		centaurin, beta 2							53.0	54.0	54.0					3																	195102746		2203	4299	6502	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195102746C>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.117G>T	3.37:g.195102746C>A						ACAP2_uc003fuo.2_Silent_p.V39V	p.V39V	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			3	358	-			39			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.117G>T	CCDS33924.1																																																																																				0.338	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2		NM_012287		13	24	1	0	1.15088e-07	0.004007	1.39853e-07	13	24		
IQCG	84223	broad.mit.edu	37	3	197652962	197652962	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652962C>T	ENST00000265239.6	-	7	1083	c.659G>A	c.(658-660)aGa>aAa	p.R220K	IQCG_ENST00000455191.1_Missense_Mutation_p.R220K|IQCG_ENST00000453254.1_Missense_Mutation_p.R220K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	220						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TATCTGTTTTCTTCCTTTTTC	0.373																																						uc003fyo.2		NaN																	0					0						c.(658-660)AGA>AAA		IQ motif containing G							196.0	177.0	183.0					3																	197652962		2203	4298	6501	SO:0001583	missense	84223							g.chr3:197652962C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.659G>A	3.37:g.197652962C>T	ENSP00000265239:p.Arg220Lys					IQCG_uc003fyn.2_Missense_Mutation_p.R122K|IQCG_uc003fyp.2_Missense_Mutation_p.R220K|IQCG_uc003fyq.3_Missense_Mutation_p.R220K	p.R220K	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	6	805	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		220					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.659G>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818868	0.32145	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254	T;T;T	0.49139	0.79;0.79;1.11	4.44	0.485	0.16830	.	0.221592	0.38217	N	0.001762	T	0.25232	0.0613	L	0.35542	1.07	0.34357	D	0.690529	P;B	0.36683	0.565;0.146	B;B	0.29785	0.107;0.098	T	0.39078	-0.9631	10	0.09338	T	0.73	-9.5196	7.4067	0.26995	0.0:0.6167:0.0:0.3833	.	220;220	C9JKX8;Q9H095	.;IQCG_HUMAN	K	220	ENSP00000265239:R220K;ENSP00000407736:R220K;ENSP00000389897:R220K	ENSP00000265239:R220K	R	-	2	0	IQCG	199137359	0.994000	0.37717	0.924000	0.36721	0.885000	0.51271	0.542000	0.23222	-0.131000	0.11578	-0.156000	0.13503	AGA		0.373	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1		NM_032263		24	43	0	0	0	0.002299	0	24	43		
IQCG	84223	broad.mit.edu	37	3	197652965	197652965	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr3:197652965C>T	ENST00000265239.6	-	7	1080	c.656G>A	c.(655-657)gGa>gAa	p.G219E	IQCG_ENST00000455191.1_Missense_Mutation_p.G219E|IQCG_ENST00000453254.1_Missense_Mutation_p.G219E	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	219						extracellular vesicular exosome (GO:0070062)		p.G219V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTGTTTTCTTCCTTTTTCCTC	0.368																																						uc003fyo.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(655-657)GGA>GAA		IQ motif containing G							198.0	177.0	184.0					3																	197652965		2203	4298	6501	SO:0001583	missense	84223							g.chr3:197652965C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.656G>A	3.37:g.197652965C>T	ENSP00000265239:p.Gly219Glu					IQCG_uc003fyn.2_Missense_Mutation_p.G121E|IQCG_uc003fyp.2_Missense_Mutation_p.G219E|IQCG_uc003fyq.3_Missense_Mutation_p.G219E	p.G219E	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	6	802	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		219					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.656G>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648067	0.67358	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254	T;T;T	0.48836	0.9;0.9;0.8	4.44	4.44	0.53790	.	0.072571	0.53938	D	0.000054	T	0.64713	0.2623	M	0.80746	2.51	0.48135	D	0.999596	D;D	0.65815	0.995;0.994	D;P	0.65323	0.934;0.729	T	0.63355	-0.6656	10	0.19147	T	0.46	-18.7748	13.0046	0.58696	0.0:1.0:0.0:0.0	.	219;219	C9JKX8;Q9H095	.;IQCG_HUMAN	E	219	ENSP00000265239:G219E;ENSP00000407736:G219E;ENSP00000389897:G219E	ENSP00000265239:G219E	G	-	2	0	IQCG	199137362	1.000000	0.71417	0.989000	0.46669	0.922000	0.55478	3.745000	0.55119	2.202000	0.70862	0.650000	0.86243	GGA		0.368	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1		NM_032263		21	41	0	0	0	0.008871	0	21	41		
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:1806119G>A	ENST00000260795.2	+	8	1240	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000340107.4_Missense_Mutation_p.G382R|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380			G -> R (in keratinocytic non- epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling; dbSNP:rs28931614). {ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7847369, ECO:0000269|PubMed:8078586}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTCAGCTACGGGGTGGGCTT	0.672		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		14	Substitution - Missense(14)	p.G380R(15)|p.G380E(1)	urinary_tract(13)|skin(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM940785|CM940786|CX090489	FGFR3	M|X	rs28931614	c.(1138-1140)GGG>AGG		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						160.0	153.0	156.0					4																	1806119		2203	4300	6503	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806119G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1138G>A	4.37:g.1806119G>A	ENSP00000260795:p.Gly380Arg					FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1394	+		Breast(71;0.212)|all_epithelial(65;0.241)	380			Helical; (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1138G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	19.38	3.816739	0.70912	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.68	3.82	0.43975	.	0.059512	0.64402	D	0.000003	D	0.88224	0.6379	L	0.54323	1.7	0.80722	D	1	D;P;D	0.67145	0.959;0.94;0.996	P;B;P	0.57371	0.637;0.255;0.819	D	0.88921	0.3366	10	0.62326	D	0.03	.	14.9577	0.71131	0.0:0.144:0.856:0.0	rs28931614	382;380;380	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	R	380;382;380;380	ENSP00000420533:G380R;ENSP00000339824:G382R;ENSP00000414914:G380R;ENSP00000260795:G380R	ENSP00000260795:G380R	G	+	1	0	FGFR3	1775917	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	3.516000	0.53436	1.066000	0.40716	0.462000	0.41574	GGG		0.672	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		167	154	0	0	0	0.00361	0	167	154		
ADRA2C	152	broad.mit.edu	37	4	3769370	3769370	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:3769370C>G	ENST00000330055.5	+	1	1246	c.1037C>G	c.(1036-1038)tCg>tGg	p.S346W	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	346					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCCGCCTGTCGCGCGCCAGC	0.821																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NaN																	0					0						c.(1036-1038)TCG>TGG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						7.0	6.0	6.0					4																	3769370		1403	3155	4558	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769370C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1037C>G	4.37:g.3769370C>G	ENSP00000386069:p.Ser346Trp					ADRA2C_uc010icx.2_Intron	p.S346W	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1075	+			346			Cytoplasmic (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1037C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667054	0.47677	.	.	ENSG00000184160	ENST00000330055	T	0.66460	-0.21	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.83464	0.5260	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.87165	0.2217	9	0.66056	D	0.02	.	13.6572	0.62346	0.0:1.0:0.0:0.0	.	346	P18825	ADA2C_HUMAN	W	346	ENSP00000386069:S346W	ENSP00000386069:S346W	S	+	2	0	ADRA2C	3739168	0.998000	0.40836	0.998000	0.56505	0.390000	0.30446	3.321000	0.51999	1.646000	0.50622	0.436000	0.28706	TCG		0.821	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1		NM_000683		5	2	0	0	0	0.001168	0	5	2		
CLNK	116449	broad.mit.edu	37	4	10566338	10566338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:10566338G>A	ENST00000226951.6	-	7	595	c.356C>T	c.(355-357)tCc>tTc	p.S119F	CLNK_ENST00000507719.1_Missense_Mutation_p.S77F|CLNK_ENST00000442825.2_Missense_Mutation_p.S77F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	119					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.S119C(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTGTCCAATGGAGATAGAGGT	0.453																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.3		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(355-357)TCC>TTC		mast cell immunoreceptor signal transducer							200.0	190.0	194.0					4																	10566338		1989	4151	6140	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10566338G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.356C>T	4.37:g.10566338G>A	ENSP00000226951:p.Ser119Phe					CLNK_uc003gmp.2_Missense_Mutation_p.S77F	p.S119F	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			7	493	-			119					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.356C>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683254	0.29872	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.53423	1.68;0.62;0.62	5.39	4.55	0.56014	.	1.920360	0.02476	N	0.088004	T	0.41396	0.1157	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.34079	-0.9843	10	0.87932	D	0	0.0049	10.7377	0.46135	0.0888:0.0:0.9112:0.0	.	77;119	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	F	119;119;77;77	ENSP00000226951:S119F;ENSP00000390744:S77F;ENSP00000427208:S77F	ENSP00000226951:S119F	S	-	2	0	CLNK	10175436	0.070000	0.21116	0.002000	0.10522	0.009000	0.06853	2.764000	0.47613	1.425000	0.47237	0.644000	0.83932	TCC		0.453	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1		NM_052964		37	42	0	0	0	0.002852	0	37	42		
PGM2	55276	broad.mit.edu	37	4	37839181	37839181	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:37839181C>T	ENST00000381967.4	+	4	487	c.387C>T	c.(385-387)atC>atT	p.I129I	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	129					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CCACATTTATCAGTCAGGGGA	0.458																																						uc011byb.1		NaN																	0				ovary(1)	1						c.(385-387)ATC>ATT		phosphoglucomutase 2							221.0	202.0	208.0					4																	37839181		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37839181C>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.387C>T	4.37:g.37839181C>T						PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	p.I129I	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			4	460	+			129					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.387C>T	CCDS3443.1																																																																																				0.458	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2		NM_018290		49	128	0	0	0	0.00361	0	49	128		
SGCB	6443	broad.mit.edu	37	4	52894145	52894145	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:52894145C>G	ENST00000381431.5	-	5	964	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SGCB_ENST00000535450.1_Missense_Mutation_p.E178Q	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	248	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCCTTTAACTCCATATTACCA	0.333																																						uc003gzj.2		NaN																	0					0						c.(742-744)GAG>CAG		sarcoglycan, beta							123.0	122.0	122.0					4																	52894145		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52894145C>G	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.742G>C	4.37:g.52894145C>G	ENSP00000370839:p.Glu248Gln					SGCB_uc011bzp.1_Missense_Mutation_p.E178Q	p.E248Q	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		5	802	-			248			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.742G>C	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654252	0.47467	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94723	-3.5;-3.5	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	L	0.51422	1.61	0.53688	D	0.999977	D;D	0.59767	0.986;0.986	D;P	0.64144	0.922;0.864	D	0.94169	0.7421	10	0.25106	T	0.35	-10.8664	17.5408	0.87846	0.0:1.0:0.0:0.0	.	178;248	B7Z635;Q16585	.;SGCB_HUMAN	Q	248;178	ENSP00000370839:E248Q;ENSP00000441199:E178Q	ENSP00000370839:E248Q	E	-	1	0	SGCB	52588902	1.000000	0.71417	0.895000	0.35142	0.417000	0.31264	5.884000	0.69729	2.381000	0.81170	0.655000	0.94253	GAG		0.333	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2				18	90	0	0	0	0.007413	0	18	90		
SRD5A3	79644	broad.mit.edu	37	4	56236183	56236183	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:56236183C>T	ENST00000264228.4	+	5	1110	c.882C>T	c.(880-882)ctC>ctT	p.L294L	SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	294					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|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)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	CTGCCTTTCTCAGCCACCAAT	0.423																																						uc003hau.2		NaN																	0					0						c.(880-882)CTC>CTT		steroid 5 alpha-reductase 3							148.0	132.0	137.0					4																	56236183		2203	4300	6503	SO:0001819	synonymous_variant	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56236183C>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.882C>T	4.37:g.56236183C>T						uc003hav.1_Intron|uc003haw.1_Intron	p.L294L	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		5	977	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		294			Cytoplasmic (Potential).		Q4W5Q6	Silent	SNP	ENST00000264228.4	37	c.882C>T	CCDS3498.1																																																																																				0.423	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2		NM_024592		26	86	0	0	0	0.004656	0	26	86		
LPHN3	23284	broad.mit.edu	37	4	62542622	62542622	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:62542622C>T	ENST00000514591.1	+	5	677	c.348C>T	c.(346-348)taC>taT	p.Y116Y	LPHN3_ENST00000504896.1_Silent_p.Y116Y|LPHN3_ENST00000545650.1_Silent_p.Y116Y|LPHN3_ENST00000508693.1_Silent_p.Y184Y|LPHN3_ENST00000507625.1_Silent_p.Y184Y|LPHN3_ENST00000514157.1_Silent_p.Y116Y|LPHN3_ENST00000506720.1_Silent_p.Y184Y|LPHN3_ENST00000506700.1_Silent_p.Y116Y|LPHN3_ENST00000508946.1_Silent_p.Y116Y|LPHN3_ENST00000514996.1_Silent_p.Y116Y|LPHN3_ENST00000507164.1_Silent_p.Y184Y|LPHN3_ENST00000506746.1_Silent_p.Y184Y|LPHN3_ENST00000509896.1_Silent_p.Y184Y|LPHN3_ENST00000512091.2_Silent_p.Y116Y|LPHN3_ENST00000511324.1_Silent_p.Y184Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	116	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTATAAATACCTTGAAGTGC	0.398																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(346-348)TAC>TAT		latrophilin 3 precursor							236.0	231.0	233.0					4																	62542622		1970	4198	6168	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62542622C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.348C>T	4.37:g.62542622C>T						LPHN3_uc003hcq.3_Silent_p.Y116Y|LPHN3_uc010ihg.1_Silent_p.Y184Y	p.Y116Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			3	521	+			116			SUEL-type lectin.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.348C>T	CCDS54768.1																																																																																				0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				12	274	0	0	0	0.001368	0	12	274		
SMR3A	26952	broad.mit.edu	37	4	71232530	71232530	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:71232530G>A	ENST00000226460.4	+	3	320	c.224G>A	c.(223-225)aGa>aAa	p.R75K		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	75	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGAATCCCACCA	0.537																																						uc003hfg.1		NaN																	0					0						c.(223-225)AGA>AAA		submaxillary gland androgen regulated protein 3							175.0	158.0	164.0					4																	71232530		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232530G>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.224G>A	4.37:g.71232530G>A	ENSP00000226460:p.Arg75Lys					SMR3B_uc011cas.1_Intron	p.R75K	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	305	+		all_hematologic(202;0.196)	75			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.224G>A	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671568	0.14776	.	.	ENSG00000109208	ENST00000226460	T	0.34472	1.36	2.94	-3.31	0.04988	.	.	.	.	.	T	0.16471	0.0396	L	0.27053	0.805	0.09310	N	1	P	0.38677	0.642	B	0.29077	0.098	T	0.10683	-1.0619	9	0.87932	D	0	.	2.0392	0.03546	0.1157:0.1543:0.2312:0.4988	.	75	Q99954	SMR3A_HUMAN	K	75	ENSP00000226460:R75K	ENSP00000226460:R75K	R	+	2	0	SMR3A	71267119	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.110000	0.03306	-0.845000	0.04179	0.561000	0.74099	AGA		0.537	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1		NM_012390		27	173	0	0	0	0.007291	0	27	173		
SHROOM3	57619	broad.mit.edu	37	4	77357273	77357273	+	Missense_Mutation	SNP	G	G	A	rs142735873		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77357273G>A	ENST00000296043.6	+	1	1021	c.68G>A	c.(67-69)gGa>gAa	p.G23E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	23					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCACCAAGGGAAGGTACATT	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(67-69)GGA>GAA		shroom family member 3 protein		G	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	197.0	193.0	194.0		68	2.7	0.8	4	dbSNP_134	194	0,8600		0,0,4300	yes	missense	SHROOM3	NM_020859.3	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	23/1997	77357273	2,13004	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77357273G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.68G>A	4.37:g.77357273G>A	ENSP00000296043:p.Gly23Glu						p.G23E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		1	1021	+			23					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.68G>A	CCDS3579.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.175	-0.639708	0.03557	4.54E-4	0.0	ENSG00000138771	ENST00000296043	T	0.21734	1.99	5.44	2.69	0.31865	PDZ/DHR/GLGF (1);	0.424043	0.20218	N	0.096760	T	0.11367	0.0277	L	0.31752	0.955	0.27836	N	0.94128	B	0.33494	0.414	B	0.28638	0.092	T	0.24764	-1.0151	10	0.14252	T	0.57	-7.1577	6.9542	0.24562	0.1585:0.1434:0.6981:0.0	.	23	Q8TF72	SHRM3_HUMAN	E	23	ENSP00000296043:G23E	ENSP00000296043:G23E	G	+	2	0	SHROOM3	77576297	0.809000	0.29036	0.757000	0.31301	0.016000	0.09150	0.904000	0.28491	0.447000	0.26695	0.650000	0.86243	GGA		0.473	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		54	143	0	0	0	0.00361	0	54	143		
SHROOM3	57619	broad.mit.edu	37	4	77651964	77651964	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:77651964G>A	ENST00000296043.6	+	4	1416	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	155					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGGCGCAGTGAGCCTGCAGG	0.562																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(463-465)GAG>AAG		shroom family member 3 protein							120.0	111.0	114.0					4																	77651964		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77651964G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.463G>A	4.37:g.77651964G>A	ENSP00000296043:p.Glu155Lys					SHROOM3_uc011cbz.1_5'UTR|SHROOM3_uc003hkf.1_Missense_Mutation_p.E30K	p.E155K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	1416	+			155					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.463G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	31	5.072585	0.93950	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.23552	1.9	5.73	5.73	0.89815	.	0.549134	0.18257	N	0.146757	T	0.46112	0.1376	M	0.71036	2.16	0.52099	D	0.999949	D	0.59767	0.986	P	0.53266	0.722	T	0.41395	-0.9511	10	0.62326	D	0.03	-7.9607	19.8928	0.96935	0.0:0.0:1.0:0.0	.	155	Q8TF72	SHRM3_HUMAN	K	155;30	ENSP00000296043:E155K	ENSP00000296043:E155K	E	+	1	0	SHROOM3	77870988	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.666000	0.83877	2.713000	0.92767	0.591000	0.81541	GAG		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		48	87	0	0	0	0.00361	0	48	87		
SPARCL1	8404	broad.mit.edu	37	4	88401595	88401595	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88401595C>G	ENST00000282470.6	-	9	2216	c.1746G>C	c.(1744-1746)aaG>aaC	p.K582N	SPARCL1_ENST00000503414.1_Missense_Mutation_p.K457N|SPARCL1_ENST00000418378.1_Missense_Mutation_p.K582N	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	582					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.N584fs*25(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTAGTTTTTCTTAAAGTCCC	0.423																																						uc010ikm.2		NaN																	1	Deletion - Frameshift(1)		breast(1)	ovary(1)	1						c.(1744-1746)AAG>AAC		SPARC-like 1 precursor							127.0	128.0	128.0					4																	88401595		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88401595C>G	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1746G>C	4.37:g.88401595C>G	ENSP00000282470:p.Lys582Asn					SPARCL1_uc011cdc.1_Missense_Mutation_p.K457N|SPARCL1_uc003hqs.3_Missense_Mutation_p.K582N|SPARCL1_uc011cdd.1_Missense_Mutation_p.K457N	p.K582N	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	10	2318	-			582					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1746G>C	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934375	0.73442	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26373	2.3;2.3;1.74	5.34	4.48	0.54585	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.055434	0.85682	D	0.000000	T	0.36413	0.0966	N	0.25647	0.755	0.39522	D	0.968538	D	0.89917	1.0	D	0.79784	0.993	T	0.12319	-1.0552	10	0.48119	T	0.1	-23.8468	14.037	0.64651	0.0:0.9231:0.0:0.0769	.	582	Q14515	SPRL1_HUMAN	N	582;582;457;457	ENSP00000282470:K582N;ENSP00000414856:K582N;ENSP00000422903:K457N	ENSP00000282470:K582N	K	-	3	2	SPARCL1	88620619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.263000	0.43293	2.663000	0.90544	0.585000	0.79938	AAG		0.423	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2				27	81	0	0	0	0.001786	0	27	81		
PKD2	5311	broad.mit.edu	37	4	88996667	88996667	+	Missense_Mutation	SNP	C	C	A	rs377398357		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:88996667C>A	ENST00000508588.1	+	10	1377	c.982C>A	c.(982-984)Cgt>Agt	p.R328S	PKD2_ENST00000237596.2_Missense_Mutation_p.R910S|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R328S			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACGGCTAGTACGTGAAGAGTT	0.507																																						uc003hre.2		NaN																	0				skin(1)	1						c.(2728-2730)CGT>AGT		polycystin 2							158.0	158.0	158.0					4																	88996667		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88996667C>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.982C>A	4.37:g.88996667C>A	ENSP00000427131:p.Arg328Ser					PKD2_uc011cdf.1_Missense_Mutation_p.R328S|PKD2_uc011cdg.1_Missense_Mutation_p.R236S|PKD2_uc011cdh.1_Missense_Mutation_p.R133S	p.R910S	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	15	2794	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	910			Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2728C>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.177222	0.78564	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.94330	-0.68;-3.4;-3.4	5.2	4.34	0.51931	.	0.053699	0.64402	D	0.000001	D	0.94039	0.8090	M	0.66939	2.045	0.58432	D	0.999999	D	0.58620	0.983	P	0.52267	0.694	D	0.93949	0.7230	10	0.87932	D	0	-17.1627	12.7771	0.57455	0.2985:0.7015:0.0:0.0	.	910	Q13563	PKD2_HUMAN	S	910;328;328	ENSP00000237596:R910S;ENSP00000427131:R328S;ENSP00000425289:R328S	ENSP00000237596:R910S	R	+	1	0	PKD2	89215691	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	2.154000	0.42291	1.139000	0.42245	0.585000	0.79938	CGT		0.507	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2		NM_000297		33	256	1	0	2.61193e-14	0.001786	3.27344e-14	33	256		
FAM13A	10144	broad.mit.edu	37	4	89709016	89709016	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:89709016G>T	ENST00000264344.5	-	10	1366	c.1159C>A	c.(1159-1161)Caa>Aaa	p.Q387K	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q33K|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q61K|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q61K|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q47K|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	387					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTGAACTTTGACCTCCAGAG	0.463																																						uc003hse.1		NaN																	0				ovary(1)|liver(1)	2						c.(1159-1161)CAA>AAA		family with sequence similarity 13, member A1							103.0	104.0	104.0					4																	89709016		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89709016G>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1159C>A	4.37:g.89709016G>T	ENSP00000264344:p.Gln387Lys					FAM13A_uc003hsb.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsd.1_Missense_Mutation_p.Q61K|FAM13A_uc003hsc.1_Missense_Mutation_p.Q47K|FAM13A_uc011cdq.1_Missense_Mutation_p.Q33K|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q201K|FAM13A_uc010ikr.1_5'UTR	p.Q387K	NM_014883	NP_055698	O94988	FA13A_HUMAN			10	1367	-			387					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1159C>A	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521956	0.85600	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	T;T;T;T;T	0.62941	-0.01;-0.01;1.34;-0.01;1.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.998;0.998;0.998	D;D;D;D;D	0.78314	0.991;0.98;0.991;0.991;0.991	T	0.76263	-0.3023	10	0.49607	T	0.09	.	18.8395	0.92177	0.0:0.0:1.0:0.0	.	33;387;61;47;61	O94988-6;O94988;O94988-3;O94988-5;O94988-1	.;FA13A_HUMAN;.;.;.	K	61;387;47;61;33	ENSP00000378450:Q61K;ENSP00000264344:Q387K;ENSP00000427189:Q47K;ENSP00000421562:Q61K;ENSP00000423252:Q33K	ENSP00000264344:Q387K	Q	-	1	0	FAM13A	89928039	1.000000	0.71417	0.965000	0.40720	0.836000	0.47400	7.174000	0.77620	2.762000	0.94881	0.655000	0.94253	CAA		0.463	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1				13	94	1	0	1.05317e-09	0.00245	1.29843e-09	13	94		
TIGD2	166815	broad.mit.edu	37	4	90034378	90034378	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:90034378G>C	ENST00000317005.2	+	1	411	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	85	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AGTTATGATAGAGTGGTTTAA	0.393																																						uc003hsk.2		NaN																	0					0						c.(253-255)GAG>CAG		tigger transposable element derived 2							122.0	119.0	120.0					4																	90034378		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034378G>C	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.253G>C	4.37:g.90034378G>C	ENSP00000317170:p.Glu85Gln					FAM13A_uc003hsh.1_5'Flank	p.E85Q	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	411	+		Hepatocellular(203;0.114)	85			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.253G>C	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.084908	0.55861	.	.	ENSG00000180346	ENST00000317005	T	0.25250	1.81	3.9	3.9	0.45041	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.41605	U	0.000848	T	0.41351	0.1155	L	0.58969	1.84	0.28649	N	0.90676	D	0.69078	0.997	D	0.67725	0.953	T	0.23440	-1.0188	10	0.17369	T	0.5	.	13.43	0.61049	0.0:0.0:1.0:0.0	.	85	Q4W5G0	TIGD2_HUMAN	Q	85	ENSP00000317170:E85Q	ENSP00000317170:E85Q	E	+	1	0	TIGD2	90253401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.628000	0.46477	2.023000	0.59567	0.552000	0.68991	GAG		0.393	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2		NM_145715		15	65	0	0	0	0.006122	0	15	65		
MTTP	4547	broad.mit.edu	37	4	100503108	100503108	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:100503108C>G	ENST00000265517.5	+	2	311	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MTTP_ENST00000422897.2_Silent_p.L36L|MTTP_ENST00000457717.1_Silent_p.L36L|MTTP_ENST00000511045.1_Silent_p.L63L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	36	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L36L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGTACAAGCTCACGTACTCCA	0.458																																						uc003hvc.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(106-108)CTC>CTG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						163.0	142.0	149.0					4																	100503108		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503108C>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.108C>G	4.37:g.100503108C>G						MTTP_uc011cej.1_Silent_p.L63L|MTTP_uc003hvb.2_Silent_p.L36L	p.L36L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	364	+			36			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.108C>G	CCDS3651.1																																																																																				0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				17	79	0	0	0	0.00499	0	17	79		
CENPE	1062	broad.mit.edu	37	4	104079969	104079969	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:104079969C>T	ENST00000265148.3	-	23	2765	c.2676G>A	c.(2674-2676)ctG>ctA	p.L892L	CENPE_ENST00000380026.3_Silent_p.L867L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	892					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTGTTCCTTCAGCTGTTCCA	0.348																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.(2674-2676)CTG>CTA		centromere protein E							80.0	76.0	78.0					4																	104079969		2203	4299	6502	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104079969C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2676G>A	4.37:g.104079969C>T						CENPE_uc003hxc.1_Silent_p.L867L	p.L892L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	23	2766	-			892			Potential.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.2676G>A	CCDS34042.1																																																																																				0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					22	49	0	0	0	0.001882	0	22	49		
KIAA1109	84162	broad.mit.edu	37	4	123270446	123270446	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:123270446G>T	ENST00000264501.4	+	78	13787	c.13414G>T	c.(13414-13416)Gat>Tat	p.D4472Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D4472Y			Q2LD37	K1109_HUMAN	KIAA1109	4472					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGGACCATAGATGTCAATGC	0.368																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13414-13416)GAT>TAT		fragile site-associated protein							155.0	163.0	161.0					4																	123270446		1896	4110	6006	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123270446G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13414G>T	4.37:g.123270446G>T	ENSP00000264501:p.Asp4472Tyr					KIAA1109_uc003iem.2_Missense_Mutation_p.D828Y	p.D4472Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			76	13459	+			4472					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13414G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.920720|3.920720	0.73213|0.73213	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Fragile site-associated protein, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71736|.	0.3375|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77004|.	0.971;0.989|.	T|.	0.65643|.	-0.6118|.	10|.	0.87932|.	D|.	0|.	.|.	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4471;4472|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	Y|Y	4472;4472;1141;73|847	ENSP00000264501:D4472Y;ENSP00000373390:D4472Y;ENSP00000410874:D1141Y|.	ENSP00000264501:D4472Y|.	D|X	+|+	1|3	0|2	KIAA1109|KIAA1109	123489896|123489896	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.062000|8.062000	0.89475|0.89475	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAT|TAG		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		19	27	1	0	2.4624e-09	0.008871	3.02032e-09	19	27		
PGRMC2	10424	broad.mit.edu	37	4	129193566	129193566	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193566C>G	ENST00000296425.5	-	2	545	c.525G>C	c.(523-525)ttG>ttC	p.L175F	PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.L43F|PGRMC2_ENST00000520121.1_Missense_Mutation_p.L199F|PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503872.1_5'UTR			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	175	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										GTACTGCATTCAAATCTGAGA	0.353																																					Colon(78;371 1268 8296 41305 53030)	uc003igg.2		NaN																	0					0						c.(523-525)TTG>TTC		progesterone receptor membrane component 2							73.0	71.0	72.0					4																	129193566		2203	4300	6503	SO:0001583	missense	10424							g.chr4:129193566C>G		CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.525G>C	4.37:g.129193566C>G	ENSP00000296425:p.Leu175Phe						p.L175F	NM_006320	NP_006311					2	530	-								Q569H1	Missense_Mutation	SNP	ENST00000296425.5	37	c.525G>C		.	.	.	.	.	.	.	.	.	.	C	17.54	3.415038	0.62511	.	.	ENSG00000164040	ENST00000296425;ENST00000520121	D;D	0.81739	-1.53;-1.53	4.96	4.1	0.47936	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	M	0.87456	2.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86904	0.2056	10	0.72032	D	0.01	-6.9782	3.2548	0.06827	0.2295:0.5711:0.0:0.1994	.	175	O15173	PGRC2_HUMAN	F	175;199	ENSP00000296425:L175F;ENSP00000429301:L199F	ENSP00000296425:L175F	L	-	3	2	PGRMC2	129413016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.725000	0.38074	1.279000	0.44446	0.555000	0.69702	TTG		0.353	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1				5	39	0	0	0	0.001984	0	5	39		
PGRMC2	10424	broad.mit.edu	37	4	129193594	129193594	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:129193594C>G	ENST00000296425.5	-	2	517	c.497G>C	c.(496-498)aGa>aCa	p.R166T	PGRMC2_ENST00000394276.3_5'UTR|PGRMC2_ENST00000503588.1_Missense_Mutation_p.R34T|PGRMC2_ENST00000520121.1_Missense_Mutation_p.R190T|PGRMC2_ENST00000512483.1_5'UTR|PGRMC2_ENST00000503872.1_5'UTR			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	166	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										ATATTCATCTCTAAGTGCATC	0.373																																					Colon(78;371 1268 8296 41305 53030)	uc003igg.2		NaN																	0					0						c.(496-498)AGA>ACA		progesterone receptor membrane component 2							66.0	65.0	65.0					4																	129193594		2203	4300	6503	SO:0001583	missense	10424							g.chr4:129193594C>G		CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.497G>C	4.37:g.129193594C>G	ENSP00000296425:p.Arg166Thr						p.R166T	NM_006320	NP_006311					2	502	-								Q569H1	Missense_Mutation	SNP	ENST00000296425.5	37	c.497G>C		.	.	.	.	.	.	.	.	.	.	C	14.44	2.535225	0.45176	.	.	ENSG00000164040	ENST00000296425;ENST00000520121	T;T	0.76448	-1.01;-1.02	5.07	1.81	0.25067	Cytochrome b5 (3);	0.139037	0.64402	D	0.000006	T	0.57873	0.2083	N	0.17594	0.5	0.53688	D	0.999971	B	0.30236	0.274	B	0.34346	0.18	T	0.46992	-0.9151	10	0.06757	T	0.87	-3.0582	9.6569	0.39932	0.0:0.6975:0.0:0.3025	.	166	O15173	PGRC2_HUMAN	T	166;190	ENSP00000296425:R166T;ENSP00000429301:R190T	ENSP00000296425:R166T	R	-	2	0	PGRMC2	129413044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.318000	0.33643	0.554000	0.29061	0.555000	0.69702	AGA		0.373	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1				5	33	0	0	0	0.001168	0	5	33		
MAML3	55534	broad.mit.edu	37	4	140641044	140641044	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:140641044C>G	ENST00000509479.2	-	5	3706	c.2850G>C	c.(2848-2850)caG>caC	p.Q950H	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATAAGGCTCTGCAGCCTTG	0.567																																						uc003ihz.1		NaN																	0				ovary(1)	1						c.(2833-2835)CAG>CAC		mastermind-like 3							65.0	69.0	68.0					4																	140641044		2003	4169	6172	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641044C>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2850G>C	4.37:g.140641044C>G	ENSP00000421180:p.Gln950His					MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.Q413H	p.Q945H	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			7	3587	-	all_hematologic(180;0.162)		946			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2835G>C	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951905	0.34471	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.26067	1.76	4.86	1.87	0.25490	.	0.000000	0.64402	D	0.000001	T	0.46964	0.1420	M	0.77820	2.39	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.35992	-0.9766	10	0.62326	D	0.03	.	9.1564	0.36996	0.0:0.4885:0.0:0.5115	.	950;946	E7EVW8;Q96JK9	.;MAML3_HUMAN	H	950;257	ENSP00000421180:Q950H	ENSP00000421180:Q950H	Q	-	3	2	MAML3	140860494	0.959000	0.32827	0.988000	0.46212	0.454000	0.32378	-0.015000	0.12634	0.102000	0.17638	0.591000	0.81541	CAG		0.567	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2				42	96	0	0	0	0.002522	0	42	96		
TBC1D9	23158	broad.mit.edu	37	4	141555214	141555214	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:141555214G>C	ENST00000442267.2	-	16	2708	c.2634C>G	c.(2632-2634)ctC>ctG	p.L878L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	878							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCAAGGAAAGAGAAGAGCAA	0.522																																						uc010ioj.2		NaN																	0				ovary(1)	1						c.(2632-2634)CTC>CTG		TBC1 domain family, member 9 (with GRAM domain)							74.0	75.0	75.0					4																	141555214		2090	4214	6304	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141555214G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2634C>G	4.37:g.141555214G>C							p.L878L	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			16	2906	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	878					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2634C>G	CCDS47136.1																																																																																				0.522	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130		8	32	0	0	0	0.00308	0	8	32		
LRBA	987	broad.mit.edu	37	4	151511949	151511949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:151511949G>C	ENST00000357115.3	-	40	6385	c.6142C>G	c.(6142-6144)Cag>Gag	p.Q2048E	LRBA_ENST00000510413.1_Missense_Mutation_p.Q2037E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q2037E|LRBA_ENST00000535741.1_Missense_Mutation_p.Q2037E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2048						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTGAGTTCTGATTTCCTAAA	0.428																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(6142-6144)CAG>GAG		LPS-responsive vesicle trafficking, beach and							111.0	95.0	100.0					4																	151511949		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151511949G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6142C>G	4.37:g.151511949G>C	ENSP00000349629:p.Gln2048Glu					LRBA_uc003ilt.3_Missense_Mutation_p.Q696E|LRBA_uc003ilu.3_Missense_Mutation_p.Q2037E	p.Q2048E	NM_006726	NP_006717	P50851	LRBA_HUMAN			40	6616	-	all_hematologic(180;0.151)		2048					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6142C>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.899689|3.899689	0.72754|0.72754	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Domain of unknown function DUF1088 (1);	.|0.184759	.|0.48767	.|D	.|0.000168	T|T	0.47414|0.47414	0.1444|0.1444	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|P;B	.|0.46457	.|0.878;0.032	.|P;B	.|0.45753	.|0.492;0.033	T|T	0.42965|0.42965	-0.9420|-0.9420	5|10	.|0.06365	.|T	.|0.9	.|.	20.3606|20.3606	0.98856|0.98856	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2048;2037	.|P50851;P50851-2	.|LRBA_HUMAN;.	M|E	689|2037;2037;2048;2037	.|ENSP00000446299:Q2037E;ENSP00000421552:Q2037E;ENSP00000349629:Q2048E;ENSP00000422180:Q2037E	.|ENSP00000349629:Q2048E	I|Q	-|-	3|1	3|0	LRBA|LRBA	151731399|151731399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.576000|9.576000	0.98192|0.98192	2.817000|2.817000	0.96982|0.96982	0.557000|0.557000	0.71058|0.71058	ATC|CAG		0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				40	45	0	0	0	0.00874	0	40	45		
GUCY1A3	2982	broad.mit.edu	37	4	156632044	156632044	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:156632044G>C	ENST00000296518.7	+	6	936	c.727G>C	c.(727-729)Gat>Cat	p.D243H	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D243H|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D243H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D243H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	243					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTCCATAATGATTGCAGCGA	0.502																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(727-729)GAT>CAT		guanylate cyclase 1, soluble, alpha 3 isoform A							126.0	119.0	121.0					4																	156632044		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632044G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.727G>C	4.37:g.156632044G>C	ENSP00000296518:p.Asp243His					GUCY1A3_uc003iou.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqc.2_Missense_Mutation_p.D243H|GUCY1A3_uc003iow.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D242H|GUCY1A3_uc003iox.2_Missense_Mutation_p.D243H|GUCY1A3_uc003ioz.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D243H|GUCY1A3_uc010iqe.2_Missense_Mutation_p.D8H|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D243H	p.D243H	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1263	+	all_hematologic(180;0.24)	Renal(120;0.0854)	243					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.727G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751869	0.49362	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.81;-1.95;-1.95;-1.95	5.76	4.01	0.46588	.	0.267388	0.31809	N	0.007028	D	0.87763	0.6259	L	0.56769	1.78	0.46849	D	0.999222	P;P;P	0.48834	0.916;0.916;0.836	P;P;P	0.51833	0.681;0.681;0.606	D	0.87702	0.2561	10	0.52906	T	0.07	.	16.7357	0.85446	0.0:0.2439:0.7561:0.0	.	243;243;243	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	H	243	ENSP00000424361:D243H;ENSP00000421493:D243H;ENSP00000426968:D243H;ENSP00000412201:D243H;ENSP00000296518:D243H;ENSP00000426040:D243H	ENSP00000296518:D243H	D	+	1	0	GUCY1A3	156851494	0.474000	0.25886	0.003000	0.11579	0.252000	0.25951	2.397000	0.44477	0.865000	0.35603	0.643000	0.83706	GAT		0.502	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				32	103	0	0	0	0.002836	0	32	103		
RAPGEF2	9693	broad.mit.edu	37	4	160244633	160244633	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:160244633T>G	ENST00000264431.4	+	5	949	c.530T>G	c.(529-531)cTc>cGc	p.L177R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	177					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGTGATTCTCAATGGATCT	0.398																																						uc003iqg.3		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(529-531)CTC>CGC		Rap guanine nucleotide exchange factor 2							119.0	110.0	113.0					4																	160244633		1879	4113	5992	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160244633T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.530T>G	4.37:g.160244633T>G	ENSP00000264431:p.Leu177Arg						p.L177R	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	5	840	+	all_hematologic(180;0.24)		177			cNMP.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.530T>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857283	0.91433	.	.	ENSG00000109756	ENST00000511336;ENST00000264431	D;D	0.93906	-2.05;-3.31	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.96904	0.8989	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97598	1.0121	10	0.87932	D	0	.	15.7203	0.77705	0.0:0.0:0.0:1.0	.	177	Q9Y4G8	RPGF2_HUMAN	R	105;177	ENSP00000421602:L105R;ENSP00000264431:L177R	ENSP00000264431:L177R	L	+	2	0	RAPGEF2	160464083	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.997000	0.88414	2.113000	0.64589	0.383000	0.25322	CTC		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		22	46	0	0	0	0.00333	0	22	46		
MSMO1	6307	broad.mit.edu	37	4	166254535	166254535	+	Missense_Mutation	SNP	G	G	A	rs146748626	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166254535G>A	ENST00000261507.6	+	2	186	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.E5K	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	5					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										GGCAACAAATGAAAGTGTCAG	0.323																																						uc003ire.2		NaN																	0					0						c.(13-15)GAA>AAA		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						61.0	60.0	60.0					4																	166254535		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254535G>A	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.13G>A	4.37:g.166254535G>A	ENSP00000261507:p.Glu5Lys					SC4MOL_uc010irb.2_Missense_Mutation_p.E5K|SC4MOL_uc003irf.2_Intron	p.E5K	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	2	143	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	5					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.13G>A	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	G	5.209	0.224166	0.09863	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T	0.63417	-0.04;0.94;0.94	5.72	2.99	0.34606	.	0.592231	0.19258	N	0.118757	T	0.39517	0.1081	N	0.14661	0.345	0.26978	N	0.965439	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18777	-1.0326	10	0.09590	T	0.72	-0.7995	10.5298	0.44971	0.0688:0.2519:0.6793:0.0	.	5;5	D6R952;Q15800	.;MSMO1_HUMAN	K	5	ENSP00000261507:E5K;ENSP00000425241:E5K;ENSP00000423633:E5K	ENSP00000261507:E5K	E	+	1	0	SC4MOL	166473985	1.000000	0.71417	0.416000	0.26546	0.089000	0.18198	4.405000	0.59741	0.320000	0.23234	-0.176000	0.13171	GAA		0.323	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1		NM_006745		21	56	0	0	0	0.00333	0	21	56		
MSMO1	6307	broad.mit.edu	37	4	166258996	166258996	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:166258996A>T	ENST00000261507.6	+	3	484	c.311A>T	c.(310-312)aAt>aTt	p.N104I	MSMO1_ENST00000393766.2_5'UTR|MSMO1_ENST00000504317.1_Missense_Mutation_p.N104I	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	104					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										CTTCTCTTTAATCACTTCTGT	0.353																																						uc003ire.2		NaN																	0					0						c.(310-312)AAT>ATT		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						127.0	128.0	128.0					4																	166258996		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166258996A>T	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.311A>T	4.37:g.166258996A>T	ENSP00000261507:p.Asn104Ile					SC4MOL_uc010irb.2_Missense_Mutation_p.N104I|SC4MOL_uc003irf.2_5'UTR	p.N104I	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	3	441	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	104			Helical; (Potential).		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.311A>T	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662772	0.88251	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317	T;T;T	0.40476	1.03;1.03;1.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.62266	1.93	0.80722	D	1	B;D	0.71674	0.435;0.998	B;D	0.66716	0.23;0.946	T	0.60727	-0.7206	10	0.45353	T	0.12	-14.0538	16.0623	0.80847	1.0:0.0:0.0:0.0	.	104;104	D6R952;Q15800	.;MSMO1_HUMAN	I	104	ENSP00000261507:N104I;ENSP00000425241:N104I;ENSP00000423633:N104I	ENSP00000261507:N104I	N	+	2	0	SC4MOL	166478446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.195000	0.70347	0.533000	0.62120	AAT		0.353	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1		NM_006745		21	48	0	0	0	0.001523	0	21	48		
SNX25	83891	broad.mit.edu	37	4	186244769	186244769	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186244769G>C	ENST00000504273.1	+	9	1366	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E358Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	358	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ACTTTACAAAGAAATTCAGCA	0.328																																						uc003ixh.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1072-1074)GAA>CAA		sorting nexin 25							62.0	67.0	65.0					4																	186244769		2203	4297	6500	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186244769G>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1072G>C	4.37:g.186244769G>C	ENSP00000426255:p.Glu358Gln					SNX25_uc010ish.2_Missense_Mutation_p.E129Q|SNX25_uc003ixi.2_5'UTR	p.E358Q	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	9	1261	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	358			RGS.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1072G>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.392446	0.83011	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.02067	4.47;4.47	5.92	5.92	0.95590	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.160031	0.56097	D	0.000035	T	0.08268	0.0206	L	0.57536	1.79	0.50039	D	0.999841	P;P	0.43885	0.608;0.82	P;P	0.52793	0.564;0.709	T	0.36407	-0.9749	10	0.25751	T	0.34	-8.066	20.3242	0.98691	0.0:0.0:1.0:0.0	.	129;358	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	Q	358	ENSP00000426255:E358Q;ENSP00000264694:E358Q	ENSP00000264694:E358Q	E	+	1	0	SNX25	186481763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.299000	0.96137	2.811000	0.96726	0.555000	0.69702	GAA		0.328	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		20	31	0	0	0	0.008871	0	20	31		
CCDC110	256309	broad.mit.edu	37	4	186392204	186392204	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:186392204C>T	ENST00000307588.3	-	2	86		c.e2-1		CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000510617.1_Splice_Site|RP11-279O9.4_ENST00000512874.1_5'Flank|CCDC110_ENST00000393540.3_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGCTGCTTTTCTGTAACAGAA	0.617																																						uc003ixu.3		NaN																	0				central_nervous_system(1)	1						c.e2-1		coiled-coil domain containing 110 isoform a							90.0	88.0	89.0					4																	186392204		2203	4300	6503	SO:0001630	splice_region_variant	256309					nucleus		g.chr4:186392204C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.11-1G>A	4.37:g.186392204C>T						CCDC110_uc003ixv.3_Splice_Site_p.E4_splice|CCDC110_uc011ckt.1_Splice_Site_p.E4_splice	p.E4_splice	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	2	87	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)						Q86YI9|Q8N7W0	Splice_Site	SNP	ENST00000307588.3	37	c.11_splice	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585506	0.28268	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4069	0.55445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC110	186629198	1.000000	0.71417	0.992000	0.48379	0.176000	0.22953	3.293000	0.51779	2.277000	0.76020	0.491000	0.48974	.		0.617	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2		NM_152775	Intron	42	74	0	0	0	0.002222	0	42	74		
KLKB1	3818	broad.mit.edu	37	4	187173013	187173013	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187173013C>G	ENST00000264690.6	+	10	1329	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	KLKB1_ENST00000513864.1_Missense_Mutation_p.S381C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	381			S -> A (in dbSNP:rs4253301). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGGGACAACTCTGGTGAGTAA	0.423																																						uc003iyy.2		NaN																	0				ovary(1)	1						c.(1141-1143)TCT>TGT		plasma kallikrein B1 precursor							120.0	125.0	123.0					4																	187173013		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173013C>G	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1142C>G	4.37:g.187173013C>G	ENSP00000264690:p.Ser381Cys					KLKB1_uc011clc.1_Missense_Mutation_p.S179C|KLKB1_uc011cld.1_Missense_Mutation_p.S343C	p.S381C	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	10	1213	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	381					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1142C>G	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.53|16.53	3.149746|3.149746	0.57151|0.57151	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.93019	.|-2.54;-3.15	5.15|5.15	4.29|4.29	0.51040|0.51040	.|.	.|0.575398	.|0.16596	.|N	.|0.207553	D|D	0.92685|0.92685	0.7675|0.7675	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	0.999999|0.999999	.|D;D;D	.|0.63880	.|0.983;0.989;0.993	.|P;P;P	.|0.53185	.|0.533;0.701;0.72	D|D	0.86707|0.86707	0.1933|0.1933	5|10	.|0.62326	.|D	.|0.03	.|.	14.2027|14.2027	0.65714|0.65714	0.0:0.8503:0.1497:0.0|0.0:0.8503:0.1497:0.0	.|.	.|343;381;381	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	V|C	429|381;381;343	.|ENSP00000264690:S381C;ENSP00000424469:S381C	.|ENSP00000264690:S381C	L|S	+|+	1|2	2|0	KLKB1|KLKB1	187410007|187410007	0.427000|0.427000	0.25514|0.25514	0.882000|0.882000	0.34594|0.34594	0.702000|0.702000	0.40608|0.40608	0.850000|0.850000	0.27737|0.27737	1.266000|1.266000	0.44231|0.44231	0.645000|0.645000	0.84053|0.84053	CTG|TCT		0.423	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1		NM_000892		20	109	0	0	0	0.001523	0	20	109		
FAT1	2195	broad.mit.edu	37	4	187521209	187521209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187521209C>G	ENST00000441802.2	-	22	12155	c.11946G>C	c.(11944-11946)ttG>ttC	p.L3982F	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3982	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGCCCATTCAAATAAATGG	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11944-11946)TTG>TTC		FAT tumor suppressor 1 precursor							143.0	144.0	144.0					4																	187521209		1947	4162	6109	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521209C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11946G>C	4.37:g.187521209C>G	ENSP00000406229:p.Leu3982Phe	HNSCC(5;0.00058)				FAT1_uc003ize.2_5'Flank	p.L3982F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			22	12134	-			3982			Extracellular (Potential).|Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11946G>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021939	0.35701	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.78707	-1.2	4.79	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.151214	0.44285	N	0.000473	T	0.69369	0.3103	L	0.39326	1.205	0.51482	D	0.999922	P	0.37038	0.579	B	0.42593	0.392	T	0.63571	-0.6607	10	0.37606	T	0.19	.	6.3427	0.21332	0.1309:0.651:0.0:0.2181	.	3982	Q14517	FAT1_HUMAN	F	3982;3984	ENSP00000406229:L3982F	ENSP00000260147:L3984F	L	-	3	2	FAT1	187758203	1.000000	0.71417	0.991000	0.47740	0.445000	0.32107	0.959000	0.29240	0.742000	0.32697	0.655000	0.94253	TTG		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		60	114	0	0	0	0.00361	0	60	114		
FAT1	2195	broad.mit.edu	37	4	187531098	187531098	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187531098C>T	ENST00000441802.2	-	15	10134	c.9925G>A	c.(9925-9927)Gat>Aat	p.D3309N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3309	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCCTCCATCAGTGGCCTCT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9925-9927)GAT>AAT		FAT tumor suppressor 1 precursor							96.0	98.0	97.0					4																	187531098		2001	4176	6177	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531098C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9925G>A	4.37:g.187531098C>T	ENSP00000406229:p.Asp3309Asn	HNSCC(5;0.00058)					p.D3309N	NM_005245	NP_005236	Q14517	FAT1_HUMAN			15	10113	-			3309			Extracellular (Potential).|Cadherin 30.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9925G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785433	0.70337	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.65364	-0.15	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81788	-0.0772	10	0.42905	T	0.14	.	18.9748	0.92731	0.0:1.0:0.0:0.0	.	3309	Q14517	FAT1_HUMAN	N	3309;3311	ENSP00000406229:D3309N	ENSP00000260147:D3311N	D	-	1	0	FAT1	187768092	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	5.876000	0.69667	2.721000	0.93114	0.650000	0.86243	GAT		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		10	43	0	0	0	0.008291	0	10	43		
PLEKHG4B	153478	broad.mit.edu	37	5	174135	174135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174135G>C	ENST00000283426.6	+	16	3306	c.3256G>C	c.(3256-3258)Gca>Cca	p.A1086P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1086	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATTCTCCAAGCAAGCTCGGC	0.582																																						uc003jak.2		NaN																	0				skin(2)	2						c.(3256-3258)GCA>CCA		pleckstrin homology domain containing, family G							70.0	56.0	60.0					5																	174135		2202	4300	6502	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:174135G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3256G>C	5.37:g.174135G>C	ENSP00000283426:p.Ala1086Pro						p.A1086P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	16	3306	+			1086			PH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3256G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581845	0.46006	.	.	ENSG00000153404	ENST00000283426	T	0.16897	2.31	3.38	3.38	0.38709	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.41880	0.1178	M	0.82132	2.575	0.40286	D	0.978456	D	0.89917	1.0	D	0.78314	0.991	T	0.49263	-0.8958	9	0.87932	D	0	.	12.2521	0.54603	0.0:0.0:1.0:0.0	.	1086	Q96PX9	PKH4B_HUMAN	P	1086	ENSP00000283426:A1086P	ENSP00000283426:A1086P	A	+	1	0	PLEKHG4B	227135	1.000000	0.71417	0.990000	0.47175	0.628000	0.37860	8.000000	0.88501	1.426000	0.47256	0.467000	0.42956	GCA		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		9	11	0	0	0	0.004482	0	9	11		
PLEKHG4B	153478	broad.mit.edu	37	5	174155	174155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:174155G>C	ENST00000283426.6	+	16	3326	c.3276G>C	c.(3274-3276)aaG>aaC	p.K1092N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1092	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGTCAAGAGTGCATGGA	0.592																																						uc003jak.2		NaN																	0				skin(2)	2						c.(3274-3276)AAG>AAC		pleckstrin homology domain containing, family G							58.0	46.0	50.0					5																	174155		2201	4299	6500	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:174155G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3276G>C	5.37:g.174155G>C	ENSP00000283426:p.Lys1092Asn						p.K1092N	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	16	3326	+			1092			PH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3276G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516241	0.27123	.	.	ENSG00000153404	ENST00000283426	T	0.15139	2.45	3.38	2.27	0.28462	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.43389	0.1245	M	0.92691	3.335	0.32507	N	0.538046	D	0.89917	1.0	D	0.81914	0.995	T	0.54675	-0.8258	9	0.87932	D	0	.	3.2489	0.06807	0.448:0.0:0.552:0.0	.	1092	Q96PX9	PKH4B_HUMAN	N	1092	ENSP00000283426:K1092N	ENSP00000283426:K1092N	K	+	3	2	PLEKHG4B	227155	0.994000	0.37717	0.300000	0.25030	0.041000	0.13682	2.430000	0.44766	1.426000	0.47256	0.467000	0.42956	AAG		0.592	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		6	7	0	0	0	0.001168	0	6	7		
SLC6A3	6531	broad.mit.edu	37	5	1414876	1414876	+	Missense_Mutation	SNP	G	G	C	rs28363072	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:1414876G>C	ENST00000270349.9	-	8	1213	c.1086C>G	c.(1084-1086)ttC>ttG	p.F362L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.F362L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	362					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGAAGACGACGAAGCCGGAGG	0.617																																						uc003jck.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(1084-1086)TTC>TTG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						100.0	85.0	90.0					5																	1414876		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1414876G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1086C>G	5.37:g.1414876G>C	ENSP00000270349:p.Phe362Leu						p.F362L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		8	1207	-			362			Helical; Name=7; (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1086C>G	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096969	0.76870	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.73469	-0.75;-0.75	4.09	-3.65	0.04502	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.71036	2.16	0.53005	D	0.999963	D	0.89917	1.0	D	0.85130	0.997	T	0.79533	-0.1764	10	0.72032	D	0.01	.	10.9772	0.47473	0.7865:0.0:0.2135:0.0	.	362	Q01959	SC6A3_HUMAN	L	362	ENSP00000270349:F362L;ENSP00000399806:F362L	ENSP00000270349:F362L	F	-	3	2	SLC6A3	1467876	0.889000	0.30405	0.964000	0.40570	0.957000	0.61999	0.023000	0.13533	-0.707000	0.05022	-1.105000	0.02106	TTC		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3		NM_001044		14	62	0	0	0	0.00499	0	14	62		
ICE1	23379	broad.mit.edu	37	5	5464123	5464123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:5464123C>T	ENST00000296564.7	+	13	4898	c.4676C>T	c.(4675-4677)tCa>tTa	p.S1559L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1559					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCAAAGATTTCAAACAAAGAT	0.373																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4675-4677)TCA>TTA		hypothetical protein LOC23379							40.0	37.0	38.0					5																	5464123		1828	4084	5912	SO:0001583	missense	23379							g.chr5:5464123C>T																												ENST00000296564.7:c.4676C>T	5.37:g.5464123C>T	ENSP00000296564:p.Ser1559Leu						p.S1559L	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4898	+			1559					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4676C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205989	0.39003	.	.	ENSG00000164151	ENST00000296564	T	0.16743	2.32	5.27	4.4	0.53042	.	.	.	.	.	T	0.13884	0.0336	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.17433	0.018	T	0.17653	-1.0362	9	0.59425	D	0.04	-1.2687	9.8463	0.41028	0.0:0.9048:0.0:0.0952	.	1559	Q9Y2F5	K0947_HUMAN	L	1559	ENSP00000296564:S1559L	ENSP00000296564:S1559L	S	+	2	0	KIAA0947	5517123	0.001000	0.12720	0.001000	0.08648	0.173000	0.22820	1.274000	0.33132	1.218000	0.43458	-0.384000	0.06662	TCA		0.373	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				8	55	0	0	0	0.00308	0	8	55		
NSUN2	54888	broad.mit.edu	37	5	6620355	6620355	+	Missense_Mutation	SNP	G	G	C	rs387907190		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:6620355G>C	ENST00000264670.6	-	7	990	c.679C>G	c.(679-681)Caa>Gaa	p.Q227E	NSUN2_ENST00000506139.1_Missense_Mutation_p.Q192E|NSUN2_ENST00000539938.1_De_novo_Start_OutOfFrame|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	227					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTCTTGGCTTGATGGACGAGC	0.522																																						uc003jdu.2		NaN																	0				ovary(1)	1						c.(679-681)CAA>GAA		NOL1/NOP2/Sun domain family, member 2							98.0	98.0	98.0					5																	6620355		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620355G>C	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.679C>G	5.37:g.6620355G>C	ENSP00000264670:p.Gln227Glu					NSUN2_uc003jdt.2_Translation_Start_Site|NSUN2_uc011cmk.1_Missense_Mutation_p.Q192E|NSUN2_uc003jdv.2_Translation_Start_Site	p.Q227E	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	744	-			227					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.679C>G	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242671	0.95272	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.40476	1.03;1.07	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68957	-0.5272	10	0.87932	D	0	-39.9524	20.2561	0.98419	0.0:0.0:1.0:0.0	.	192;227	B4DQW2;Q08J23	.;NSUN2_HUMAN	E	227;192	ENSP00000264670:Q227E;ENSP00000420957:Q192E	ENSP00000264670:Q227E	Q	-	1	0	NSUN2	6673355	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	9.285000	0.95894	2.797000	0.96272	0.563000	0.77884	CAA		0.522	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1		NM_017755		37	114	0	0	0	0.00623	0	37	114		
ADCY2	108	broad.mit.edu	37	5	7789838	7789838	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7789838G>A	ENST00000338316.4	+	20	2642	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	ADCY2_ENST00000537121.1_Silent_p.L671L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	851					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGAACCTGAACCGCGTGC	0.527																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2551-2553)CTG>CTA		adenylate cyclase 2							86.0	88.0	88.0					5																	7789838		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789838G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2553G>A	5.37:g.7789838G>A						ADCY2_uc011cmo.1_Silent_p.L671L|ADCY2_uc010itm.1_Silent_p.L47L	p.L851L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2620	+			851			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2553G>A	CCDS3872.2																																																																																				0.527	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		33	83	0	0	0	0.002096	0	33	83		
FASTKD3	79072	broad.mit.edu	37	5	7861360	7861360	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:7861360C>G	ENST00000264669.5	-	6	1922	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	596	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTGGACCATCAATACACAGT	0.294																																						uc003jeb.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1786-1788)GAT>CAT		FAST kinase domains 3							127.0	124.0	125.0					5																	7861360		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861360C>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1786G>C	5.37:g.7861360C>G	ENSP00000264669:p.Asp596His					FASTKD3_uc011cmp.1_Missense_Mutation_p.D298H|FASTKD3_uc003jec.2_RNA	p.D596H	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			6	1923	-			596			RAP.		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1786G>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156269	0.57259	.	.	ENSG00000124279	ENST00000264669	T	0.15139	2.45	5.08	4.21	0.49690	RAP domain (3);	0.055638	0.64402	D	0.000001	T	0.40956	0.1138	M	0.86268	2.805	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.44390	-0.9331	10	0.15499	T	0.54	-21.8589	13.5993	0.62010	0.0:0.9247:0.0:0.0753	.	596	Q14CZ7	FAKD3_HUMAN	H	596	ENSP00000264669:D596H	ENSP00000264669:D596H	D	-	1	0	FASTKD3	7914360	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	4.229000	0.58625	1.132000	0.42129	0.561000	0.74099	GAT		0.294	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		22	87	0	0	0	0.00278	0	22	87		
DNAH5	1767	broad.mit.edu	37	5	13862845	13862845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:13862845G>A	ENST00000265104.4	-	29	4712	c.4608C>T	c.(4606-4608)atC>atT	p.I1536I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1536	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCACCGCACTGATACAGATGT	0.413									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4606-4608)ATC>ATT		dynein, axonemal, heavy chain 5							175.0	160.0	165.0					5																	13862845		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13862845G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4608C>T	5.37:g.13862845G>A							p.I1536I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			29	4650	-	Lung NSC(4;0.00476)		1536			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4608C>T	CCDS3882.1																																																																																				0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		26	96	0	0	0	0.007291	0	26	96		
CDH10	1008	broad.mit.edu	37	5	24505321	24505321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:24505321G>C	ENST00000264463.4	-	8	1800	c.1293C>G	c.(1291-1293)atC>atG	p.I431M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAATGTTAAAGATTCTGTCAA	0.363										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1291-1293)ATC>ATG		cadherin 10, type 2 preproprotein							99.0	95.0	96.0					5																	24505321		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505321G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1293C>G	5.37:g.24505321G>C	ENSP00000264463:p.Ile431Met	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.I431M	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1625	-			431			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1293C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728816	0.30593	.	.	ENSG00000040731	ENST00000264463	T	0.50813	0.73	5.57	1.15	0.20763	Cadherin (4);Cadherin-like (1);	0.053511	0.64402	D	0.000001	T	0.28101	0.0693	L	0.28115	0.83	0.35251	D	0.778743	B	0.30727	0.292	B	0.30572	0.117	T	0.14531	-1.0469	10	0.40728	T	0.16	.	4.0537	0.09806	0.3103:0.0:0.4099:0.2798	.	431	Q9Y6N8	CAD10_HUMAN	M	431	ENSP00000264463:I431M	ENSP00000264463:I431M	I	-	3	3	CDH10	24541078	0.970000	0.33590	1.000000	0.80357	0.997000	0.91878	0.308000	0.19314	0.279000	0.22186	0.655000	0.94253	ATC		0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		10	34	0	0	0	0.006214	0	10	34		
PDZD2	23037	broad.mit.edu	37	5	32087406	32087406	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:32087406C>T	ENST00000438447.1	+	20	4240	c.3852C>T	c.(3850-3852)ctC>ctT	p.L1284L	PDZD2_ENST00000282493.3_Silent_p.L1284L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1284					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGTCAGGCTCCCCCATGAGG	0.622																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(3850-3852)CTC>CTT		PDZ domain containing 2							58.0	68.0	65.0					5																	32087406		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087406C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3852C>T	5.37:g.32087406C>T						PDZD2_uc003jhm.2_Silent_p.L1284L	p.L1284L	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	4240	+			1284					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.3852C>T	CCDS34137.1																																																																																				0.622	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				34	100	0	0	0	0.004878	0	34	100		
NIPBL	25836	broad.mit.edu	37	5	37064931	37064931	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:37064931G>A	ENST00000282516.8	+	47	8851	c.8352G>A	c.(8350-8352)ctG>ctA	p.L2784L		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2784					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTAATAAGCTGACTAATAAAG	0.408																																						uc003jkl.3		NaN																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(8350-8352)CTG>CTA		delangin isoform A							55.0	57.0	56.0					5																	37064931		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064931G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8352G>A	5.37:g.37064931G>A						NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	p.L2784L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8851	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2784					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.8352G>A	CCDS3920.1																																																																																				0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		23	61	0	0	0	0.002299	0	23	61		
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:52371064G>A	ENST00000296585.5	+	23	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	919					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348																																						uc003joy.2		NaN																	0				lung(1)	1						c.(2755-2757)GAA>AAA		integrin alpha 2 precursor							69.0	72.0	71.0					5																	52371064		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52371064G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2755G>A	5.37:g.52371064G>A	ENSP00000296585:p.Glu919Lys					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E843K|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.E919K	NM_002203	NP_002194	P17301	ITA2_HUMAN			23	2898	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	919			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2755G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888160	0.72524	.	.	ENSG00000164171	ENST00000296585	T	0.45276	0.9	6.16	4.34	0.51931	Integrin alpha-2 (1);	0.413038	0.27764	N	0.017945	T	0.44030	0.1274	L	0.52011	1.625	0.34654	D	0.721986	P;P	0.42692	0.787;0.747	P;B	0.51516	0.672;0.441	T	0.51601	-0.8685	10	0.17832	T	0.49	.	7.5741	0.27926	0.0665:0.1217:0.6854:0.1264	.	919;919	E7ESP4;P17301	.;ITA2_HUMAN	K	919	ENSP00000296585:E919K	ENSP00000296585:E919K	E	+	1	0	ITGA2	52406821	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	3.736000	0.55052	0.884000	0.36064	0.650000	0.86243	GAA		0.348	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		NM_002203		15	45	0	0	0	0.003163	0	15	45		
GZMA	3001	broad.mit.edu	37	5	54398580	54398580	+	Splice_Site	SNP	G	G	C	rs142297007	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54398580G>C	ENST00000274306.6	+	1	105	c.70G>C	c.(70-72)Gat>Cat	p.D24H		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	24					apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AATTCCTGAAGGTAAGACTGA	0.408																																						uc003jpm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(70-72)GAT>CAT		granzyme A precursor							176.0	155.0	162.0					5																	54398580		2203	4300	6503	SO:0001630	splice_region_variant	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54398580G>C		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.70+1G>C	5.37:g.54398580G>C							p.D24H	NM_006144	NP_006135	P12544	GRAA_HUMAN			1	107	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	24					A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.70G>C	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311859	0.60414	.	.	ENSG00000145649	ENST00000274306	D	0.89485	-2.52	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);	0.517494	0.22219	N	0.062986	D	0.87261	0.6133	N	0.17474	0.49	0.38089	D	0.936892	D	0.65815	0.995	P	0.57371	0.819	D	0.88690	0.3208	10	0.49607	T	0.09	.	13.7685	0.63010	0.0:0.0:1.0:0.0	.	24	P12544	GRAA_HUMAN	H	24	ENSP00000274306:D24H	ENSP00000274306:D24H	D	+	1	0	GZMA	54434337	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.431000	0.59915	2.622000	0.88805	0.655000	0.94253	GAT		0.408	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2		NM_006144	Missense_Mutation	21	81	0	0	0	0.001523	0	21	81		
DHX29	54505	broad.mit.edu	37	5	54567922	54567922	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54567922C>G	ENST00000251636.5	-	18	3005	c.2857G>C	c.(2857-2859)Gaa>Caa	p.E953Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	953	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TACTTATTTTCTTTTGTTCTT	0.318																																						uc003jpx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2857-2859)GAA>CAA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							41.0	44.0	43.0					5																	54567922		2198	4289	6487	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54567922C>G	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2857G>C	5.37:g.54567922C>G	ENSP00000251636:p.Glu953Gln					DHX29_uc010ivw.2_RNA	p.E953Q	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			18	2977	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	953			Helicase C-terminal.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2857G>C	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304775	0.81247	.	.	ENSG00000067248	ENST00000251636	T	0.02552	4.25	5.35	4.46	0.54185	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	L	0.39085	1.19	0.50313	D	0.999868	D	0.76494	0.999	D	0.76071	0.987	T	0.07635	-1.0762	10	0.72032	D	0.01	.	15.5516	0.76158	0.139:0.861:0.0:0.0	.	953	Q7Z478	DHX29_HUMAN	Q	953	ENSP00000251636:E953Q	ENSP00000251636:E953Q	E	-	1	0	DHX29	54603679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.386000	0.79775	1.342000	0.45619	0.655000	0.94253	GAA		0.318	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		45	31	0	0	0	0.002522	0	45	31		
DHX29	54505	broad.mit.edu	37	5	54585110	54585110	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54585110C>T	ENST00000251636.5	-	8	1202	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	352						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTCTCTTCTTCAGTAGCAGCT	0.313																																						uc003jpx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1054-1056)GAA>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							45.0	46.0	46.0					5																	54585110		2201	4299	6500	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54585110C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1054G>A	5.37:g.54585110C>T	ENSP00000251636:p.Glu352Lys					DHX29_uc010ivw.2_RNA	p.E352K	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			8	1174	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	352					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.1054G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119994	0.56613	.	.	ENSG00000067248	ENST00000251636	T	0.51325	0.71	6.06	6.06	0.98353	.	0.249196	0.47455	D	0.000240	T	0.32285	0.0824	N	0.16478	0.41	0.44104	D	0.996875	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	10	0.35671	T	0.21	.	12.4356	0.55598	0.0:0.9178:0.0:0.0822	.	352	Q7Z478	DHX29_HUMAN	K	352	ENSP00000251636:E352K	ENSP00000251636:E352K	E	-	1	0	DHX29	54620867	0.985000	0.35326	0.979000	0.43373	0.987000	0.75469	2.253000	0.43205	2.880000	0.98712	0.650000	0.86243	GAA		0.313	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		11	86	0	0	0	0.000978	0	11	86		
SLC38A9	153129	broad.mit.edu	37	5	54922343	54922343	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:54922343C>G	ENST00000396865.2	-	16	2256	c.1665G>C	c.(1663-1665)ctG>ctC	p.L555L	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Silent_p.L492L|SLC38A9_ENST00000318672.3_Silent_p.L555L|SLC38A9_ENST00000512595.1_Silent_p.L492L|SLC38A9_ENST00000416547.2_Silent_p.L431L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	555					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ACTGAACAATCAGGTTAGCCA	0.358																																						uc003jqf.2		NaN																	0					0						c.(1663-1665)CTG>CTC		solute carrier family 38, member 9							112.0	107.0	109.0					5																	54922343		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54922343C>G		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1665G>C	5.37:g.54922343C>G						SLC38A9_uc003jqd.2_Silent_p.L492L|SLC38A9_uc010ivx.2_Silent_p.L492L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L426L	p.L555L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			16	1866	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	555			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1665G>C	CCDS3968.1																																																																																				0.358	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2		NM_173514		85	90	0	0	0	0.00361	0	85	90		
ERBB2IP	55914	broad.mit.edu	37	5	65349978	65349978	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:65349978C>T	ENST00000284037.5	+	21	3221	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	ERBB2IP_ENST00000508515.1_Silent_p.F944F|ERBB2IP_ENST00000506030.1_Silent_p.F944F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Silent_p.F940F|ERBB2IP_ENST00000380938.2_Silent_p.F944F|ERBB2IP_ENST00000380943.2_Silent_p.F944F|ERBB2IP_ENST00000380936.1_Silent_p.F944F|ERBB2IP_ENST00000380935.1_Silent_p.F944F|ERBB2IP_ENST00000380939.2_Silent_p.F944F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	944					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGGCAATTTTCAAGTTTGATT	0.403																																						uc003juk.1		NaN																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2830-2832)TTC>TTT		ERBB2 interacting protein isoform 2							167.0	170.0	169.0					5																	65349978		2203	4299	6502	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349978C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2832C>T	5.37:g.65349978C>T						ERBB2IP_uc003jui.1_Silent_p.F944F|ERBB2IP_uc003juj.1_Silent_p.F944F|ERBB2IP_uc011cqx.1_Silent_p.F944F|ERBB2IP_uc011cqy.1_Silent_p.F944F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.F940F|ERBB2IP_uc003jul.1_Silent_p.F940F	p.F944F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3140	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	944					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.2832C>T	CCDS58953.1																																																																																				0.403	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		11	69	0	0	0	0.008291	0	11	69		
BDP1	55814	broad.mit.edu	37	5	70751838	70751838	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70751838C>T	ENST00000358731.4	+	1	397	c.134C>T	c.(133-135)tCc>tTc	p.S45F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	45	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GACTCTGCTTCCAAGCCCGCG	0.632																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(133-135)TCC>TTC		transcription factor-like nuclear regulator							25.0	28.0	27.0					5																	70751838		1892	4116	6008	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70751838C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.134C>T	5.37:g.70751838C>T	ENSP00000351575:p.Ser45Phe					BDP1_uc003kbn.1_Missense_Mutation_p.S45F|BDP1_uc003kbo.2_Missense_Mutation_p.S45F	p.S45F	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	1	397	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	45			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.134C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231247	0.22626	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.24538	1.85	5.08	4.22	0.49857	.	0.445395	0.22015	N	0.065816	T	0.22437	0.0541	N	0.22421	0.69	0.31696	N	0.641268	P;D;D	0.55605	0.799;0.972;0.962	B;P;B	0.49085	0.295;0.6;0.321	T	0.13150	-1.0520	10	0.49607	T	0.09	.	9.3763	0.38286	0.0:0.9036:0.0:0.0964	.	45;45;45	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	F	45	ENSP00000351575:S45F	ENSP00000351575:S45F	S	+	2	0	BDP1	70787594	0.056000	0.20664	0.028000	0.17463	0.016000	0.09150	2.250000	0.43178	1.368000	0.46115	-0.140000	0.14226	TCC		0.632	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		12	34	0	0	0	0.00245	0	12	34		
BDP1	55814	broad.mit.edu	37	5	70805391	70805391	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:70805391G>T	ENST00000358731.4	+	17	2735	c.2472G>T	c.(2470-2472)agG>agT	p.R824S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	824	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAACTGGAAGGAGAGAAATTT	0.413																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(2470-2472)AGG>AGT		transcription factor-like nuclear regulator							102.0	97.0	98.0					5																	70805391		1837	4084	5921	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805391G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2472G>T	5.37:g.70805391G>T	ENSP00000351575:p.Arg824Ser					BDP1_uc003kbn.1_Missense_Mutation_p.R824S|BDP1_uc003kbo.2_Missense_Mutation_p.R824S	p.R824S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	2735	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	824			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|1; approximate.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2472G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917128	0.33815	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000444711	T	0.15834	2.39	4.75	-4.88	0.03113	.	0.125902	0.36167	N	0.002753	T	0.27933	0.0688	M	0.72894	2.215	0.22017	N	0.999417	D;D;D	0.76494	0.959;0.972;0.999	P;P;D	0.71414	0.675;0.742;0.973	T	0.04481	-1.0948	10	0.44086	T	0.13	.	5.795	0.18381	0.4107:0.0:0.4452:0.1441	.	824;824;824	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	S	824;404;824	ENSP00000351575:R824S	ENSP00000351575:R824S	R	+	3	2	BDP1	70841147	0.166000	0.22962	0.017000	0.16124	0.023000	0.10783	-0.031000	0.12287	-1.002000	0.03429	-0.670000	0.03821	AGG		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		14	106	1	0	6.72482e-11	0.003163	8.35526e-11	14	106		
HEXB	3074	broad.mit.edu	37	5	73981280	73981280	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:73981280G>A	ENST00000261416.7	+	1	312	c.195G>A	c.(193-195)atG>atA	p.M65I	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	65					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGGTGAAGATGACCCCGAACC	0.697																																					Melanoma(66;841 1270 13391 18706 27225)	uc003kdf.3		NaN																	0				ovary(1)	1						c.(193-195)ATG>ATA		hexosaminidase B preproprotein							15.0	19.0	18.0					5																	73981280		2201	4300	6501	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:73981280G>A	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.195G>A	5.37:g.73981280G>A	ENSP00000261416:p.Met65Ile					HEXB_uc003kdd.2_Intron|HEXB_uc003kde.2_Missense_Mutation_p.M65I|HEXB_uc010izh.2_RNA	p.M65I	NM_000521	NP_000512	P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	1	312	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	65						Missense_Mutation	SNP	ENST00000261416.7	37	c.195G>A	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	G	9.978	1.227470	0.22542	.	.	ENSG00000049860	ENST00000261416	D	0.87103	-2.21	4.86	3.98	0.46160	.	1.191530	0.05763	N	0.605250	T	0.73760	0.3628	N	0.08118	0	0.20563	N	0.999881	B	0.02656	0.0	B	0.01281	0.0	T	0.60459	-0.7259	10	0.13470	T	0.59	0.0138	6.9142	0.24352	0.0967:0.1766:0.7267:0.0	.	65	P07686	HEXB_HUMAN	I	65	ENSP00000261416:M65I	ENSP00000261416:M65I	M	+	3	0	HEXB	74017036	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.493000	0.22451	1.019000	0.39547	0.561000	0.74099	ATG		0.697	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6		NM_000521		10	20	0	0	0	0.008291	0	10	20		
SV2C	22987	broad.mit.edu	37	5	75621207	75621207	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:75621207C>G	ENST00000502798.2	+	13	2461	c.2019C>G	c.(2017-2019)ttC>ttG	p.F673L	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	673					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTTTGGCTTCTTAAATGCGC	0.463																																						uc003kei.1		NaN																	0				skin(1)	1						c.(2017-2019)TTC>TTG		synaptic vesicle glycoprotein 2C							109.0	102.0	104.0					5																	75621207		1949	4144	6093	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75621207C>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2019C>G	5.37:g.75621207C>G	ENSP00000423541:p.Phe673Leu						p.F673L	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	13	2153	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	673			Helical; (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.2019C>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802830	0.31869	.	.	ENSG00000122012	ENST00000502798	T	0.53640	0.61	5.62	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048920	0.85682	D	0.000000	T	0.30572	0.0769	N	0.04787	-0.16	0.80722	D	1	P	0.42871	0.792	P	0.48952	0.596	T	0.03863	-1.0997	10	0.20046	T	0.44	-14.3441	7.8413	0.29400	0.0:0.6132:0.0:0.3868	.	673	Q496J9	SV2C_HUMAN	L	673	ENSP00000423541:F673L	ENSP00000423541:F673L	F	+	3	2	SV2C	75656963	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	1.481000	0.35476	0.744000	0.32741	0.561000	0.74099	TTC		0.463	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4				26	71	0	0	0	0.00632	0	26	71		
ZCCHC9	84240	broad.mit.edu	37	5	80604427	80604427	+	Silent	SNP	C	C	T	rs149561750	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:80604427C>T	ENST00000254037.2	+	2	3587	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Silent_p.P144P|ZCCHC9_ENST00000380199.5_Silent_p.P144P|ZCCHC9_ENST00000438268.2_Silent_p.P144P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	144					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CAGATTGCCCCGCCGCCCTTG	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0					uc003khj.2		NaN																	0				ovary(1)	1						c.(430-432)CCC>CCT		zinc finger, CCHC domain containing 9		C	,,	20,4386	28.1+/-56.4	1,18,2184	87.0	88.0	88.0		432,432,432	-11.9	0.6	5	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZCCHC9	NM_001131035.1,NM_001131036.1,NM_032280.2	,,	1,18,6484	TT,TC,CC		0.0,0.4539,0.1538	,,	144/272,144/272,144/272	80604427	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80604427C>T	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.432C>T	5.37:g.80604427C>T						RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P144P|ZCCHC9_uc003khi.2_Silent_p.P144P	p.P144P	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	3	565	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	144			CCHC-type 1.		B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.432C>T	CCDS4054.1																																																																																				0.473	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1		NM_032280		20	51	0	0	0	0.001523	0	20	51		
VCAN	1462	broad.mit.edu	37	5	82850806	82850806	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:82850806C>T	ENST00000265077.3	+	12	10249	c.9684C>T	c.(9682-9684)ctC>ctT	p.L3228L	VCAN_ENST00000512590.2_Silent_p.L1426L|VCAN_ENST00000502527.2_Silent_p.L487L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.L2241L|VCAN_ENST00000342785.4_Silent_p.L1474L|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3228	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGATAGGCCTCAATGACAAGA	0.403																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9682-9684)CTC>CTT		versican isoform 1 precursor							249.0	204.0	219.0					5																	82850806		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82850806C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9684C>T	5.37:g.82850806C>T						VCAN_uc003kij.3_Silent_p.L2241L|VCAN_uc010jau.2_Silent_p.L1474L|VCAN_uc003kik.3_Silent_p.L487L|VCAN_uc003kil.3_Silent_p.L1892L	p.L3228L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	12	10040	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3228			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9684C>T	CCDS4060.1																																																																																				0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		23	62	0	0	0	0.00333	0	23	62		
RASA1	5921	broad.mit.edu	37	5	86564633	86564633	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:86564633C>T	ENST00000274376.6	+	1	929	c.365C>T	c.(364-366)tCg>tTg	p.S122L	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	122					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.S122*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCACTTCGTTGCTTGCT	0.657																																						uc003kiw.2		NaN																	1	Substitution - Nonsense(1)		cervix(1)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(364-366)TCG>TTG		RAS p21 protein activator 1 isoform 1							48.0	41.0	43.0					5																	86564633		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86564633C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.365C>T	5.37:g.86564633C>T	ENSP00000274376:p.Ser122Leu					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.S122L	p.S122L	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	1	483	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	122					B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.365C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746728	0.30955	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	T	0.75154	-0.91	3.79	2.91	0.33838	.	1.163050	0.06618	N	0.756847	T	0.57519	0.2059	N	0.08118	0	0.34152	D	0.667593	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.53885	-0.8375	10	0.49607	T	0.09	.	10.1402	0.42730	0.0:0.8996:0.0:0.1004	.	155;122	Q59GK3;P20936	.;RASA1_HUMAN	L	122;155	ENSP00000274376:S122L	ENSP00000274376:S122L	S	+	2	0	RASA1	86600389	0.004000	0.15560	0.144000	0.22314	0.618000	0.37518	0.825000	0.27393	0.921000	0.36994	0.561000	0.74099	TCG		0.657	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890		6	27	0	0	0	0.004482	0	6	27		
FBXL17	64839	broad.mit.edu	37	5	107521822	107521822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:107521822C>T	ENST00000542267.1	-	6	2147	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FBXL17_ENST00000496714.1_Missense_Mutation_p.D183N|FBXL17_ENST00000359660.5_Missense_Mutation_p.D183N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	581										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTTACCTGTCATTTATGATC	0.313																																						uc011cvc.1		NaN																	0					0						c.(1741-1743)GAC>AAC		F-box and leucine-rich repeat protein 17							79.0	76.0	77.0					5																	107521822		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107521822C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1741G>A	5.37:g.107521822C>T	ENSP00000437464:p.Asp581Asn					FBXL17_uc003kon.3_Missense_Mutation_p.D183N	p.D581N	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	6	2148	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	581					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1741G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039492	0.93630	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.11063	2.81;2.81;2.81	5.26	5.26	0.73747	.	0.121857	0.53938	D	0.000048	T	0.34513	0.0900	M	0.75777	2.31	0.54753	D	0.999984	D;D	0.89917	1.0;0.996	D;P	0.66716	0.946;0.892	T	0.04216	-1.0968	10	0.59425	D	0.04	.	19.2159	0.93778	0.0:1.0:0.0:0.0	.	581;183	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	N	183;581;183	ENSP00000352683:D183N;ENSP00000437464:D581N;ENSP00000418111:D183N	ENSP00000352683:D183N	D	-	1	0	FBXL17	107549721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.603000	0.88011	0.591000	0.81541	GAC		0.313	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					6	45	0	0	0	0.001984	0	6	45		
ZNF608	57507	broad.mit.edu	37	5	123983433	123983433	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:123983433C>T	ENST00000306315.5	-	4	3079	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	ZNF608_ENST00000504926.1_Missense_Mutation_p.E455K	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	882							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTATCGGCCTCAGCTTTGATA	0.527																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(2644-2646)GAG>AAG		zinc finger protein 608							77.0	72.0	74.0					5																	123983433		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983433C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2644G>A	5.37:g.123983433C>T	ENSP00000307746:p.Glu882Lys					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.E882K|ZNF608_uc003ktt.1_Missense_Mutation_p.E882K	p.E882K	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2767	-		all_cancers(142;0.186)|Prostate(80;0.081)	882					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.2644G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829024	0.90955	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.61859	0.07;0.07	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.73217	2.22	0.80722	D	1	D	0.60575	0.988	D	0.77557	0.99	T	0.76366	-0.2985	10	0.59425	D	0.04	-35.4819	20.5161	0.99213	0.0:1.0:0.0:0.0	.	882	Q9ULD9	ZN608_HUMAN	K	455;882	ENSP00000427657:E455K;ENSP00000307746:E882K	ENSP00000307746:E882K	E	-	1	0	ZNF608	124011332	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.731000	0.84895	2.852000	0.98041	0.643000	0.83706	GAG		0.527	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		14	87	0	0	0	0.00245	0	14	87		
C5orf56	441108	broad.mit.edu	37	5	131796262	131796262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:131796262C>G	ENST00000337752.2	+	4	228	c.97C>G	c.(97-99)Caa>Gaa	p.Q33E	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	33										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						agggaatcttcaaactcttct	0.552																																						uc003kwy.1		NaN																	0					0						c.(97-99)CAA>GAA		hypothetical protein LOC441108							215.0	212.0	213.0					5																	131796262		2203	4300	6503	SO:0001583	missense	441108							g.chr5:131796262C>G	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.97C>G	5.37:g.131796262C>G	ENSP00000338228:p.Gln33Glu					C5orf56_uc003kwz.1_Intron|C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron	p.Q33E	NM_001013717	NP_001013739	Q8N8D9	CE056_HUMAN			4	228	+			33					A1L3V9|A6NKA0	Missense_Mutation	SNP	ENST00000337752.2	37	c.97C>G		.	.	.	.	.	.	.	.	.	.	C	2.498	-0.315890	0.05422	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.0	1.07	0.20283	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.09310	N	0.999999	B	0.25809	0.135	B	0.19391	0.025	T	0.20240	-1.0281	7	0.52906	T	0.07	.	5.3375	0.15965	0.2358:0.535:0.2292:0.0	.	33	Q8N8D9	CE056_HUMAN	E	33	.	ENSP00000338228:Q33E	Q	+	1	0	C5orf56	131824161	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	2.062000	0.41413	0.261000	0.21753	-0.243000	0.11985	CAA		0.552	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1		NM_001013717		33	254	0	0	0	0.003755	0	33	254		
SKP1	6500	broad.mit.edu	37	5	133502935	133502935	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:133502935C>T	ENST00000353411.6	-	3	281		c.e3-1		SKP1_ENST00000517625.1_Splice_Site|SKP1_ENST00000522552.1_Splice_Site|SKP1_ENST00000521216.1_Splice_Site|SKP1_ENST00000522855.1_Splice_Site|CTD-2410N18.5_ENST00000519718.1_Splice_Site	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCAAATCTAAGAAAACC	0.353																																						uc003kzc.3		NaN																	0					0						c.e3-1		S-phase kinase-associated protein 1 isoform b							73.0	70.0	71.0					5																	133502935		2203	4297	6500	SO:0001630	splice_region_variant	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133502935C>T	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.98-1G>A	5.37:g.133502935C>T						SKP1_uc003kzd.3_Splice_Site_p.D33_splice|SKP1_uc010jdv.2_Splice_Site_p.D33_splice	p.D33_splice	NM_170679	NP_733779	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	277	-								D3DQ97|D3DQ98|P34991|Q8TAY2	Splice_Site	SNP	ENST00000353411.6	37	c.98_splice	CCDS4171.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611002	0.87258	.	.	ENSG00000113558	ENST00000353411;ENST00000522552;ENST00000521216;ENST00000517625;ENST00000522855;ENST00000328392;ENST00000519321;ENST00000520417;ENST00000519718	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SKP1	133530834	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.732000	0.93576	0.557000	0.71058	.		0.353	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2		NM_170679	Intron	12	69	0	0	0	0.000978	0	12	69		
HSPA9	3313	broad.mit.edu	37	5	137902369	137902369	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:137902369C>G	ENST00000297185.3	-	9	1043	c.918G>C	c.(916-918)caG>caC	p.Q306H	HSPA9_ENST00000501917.2_5'UTR	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	306					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCGTACCCTCTGAAGTGCCA	0.438																																						uc003ldf.2		NaN																	0					0						c.(916-918)CAG>CAC		heat shock 70kDa protein 9 precursor							157.0	145.0	149.0					5																	137902369		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137902369C>G	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.918G>C	5.37:g.137902369C>G	ENSP00000297185:p.Gln306His					HSPA9_uc011cyw.1_Missense_Mutation_p.Q237H	p.Q306H	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1026	-			306					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.918G>C	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654349	0.67472	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01133	5.29	4.98	1.23	0.21249	.	0.053636	0.85682	D	0.000000	T	0.11367	0.0277	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01010	-1.1482	10	0.87932	D	0	-9.154	9.57	0.39422	0.0:0.7097:0.0:0.2903	.	237;306	B7Z1V7;P38646	.;GRP75_HUMAN	H	306;259;292	ENSP00000297185:Q306H	ENSP00000297185:Q306H	Q	-	3	2	HSPA9	137930268	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.437000	0.21543	0.003000	0.14656	-0.229000	0.12294	CAG		0.438	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1		NM_004134		22	185	0	0	0	0.004656	0	22	185		
SLC35A4	113829	broad.mit.edu	37	5	139947635	139947635	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:139947635C>T	ENST00000514199.1	+	2	2567	c.881C>T	c.(880-882)tCa>tTa	p.S294L	SLC35A4_ENST00000323146.3_Missense_Mutation_p.S294L|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	294	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGCTCTCAGCAGTCCTG	0.592																																						uc003lgg.1		NaN																	0					0						c.(880-882)TCA>TTA		solute carrier family 35, member A4							66.0	50.0	55.0					5																	139947635		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947635C>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.881C>T	5.37:g.139947635C>T	ENSP00000424566:p.Ser294Leu					SLC35A4_uc003lgh.1_Missense_Mutation_p.S294L	p.S294L	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1609	+			294			Leu-rich.|Helical; (Potential).		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.881C>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918066	0.92249	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.58797	0.31;0.31	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.78748	0.4332	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79827	-0.1639	9	.	.	.	-9.7935	18.6291	0.91352	0.0:1.0:0.0:0.0	.	294	Q96G79	S35A4_HUMAN	L	294	ENSP00000327133:S294L;ENSP00000424566:S294L	.	S	+	2	0	SLC35A4	139927819	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.731000	0.93534	0.555000	0.69702	TCA		0.592	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1		NM_080670		19	49	0	0	0	0.007413	0	19	49		
PCDHA5	56143	broad.mit.edu	37	5	140202747	140202747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140202747G>A	ENST00000529859.1	+	1	1387	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V463M|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V463M|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V463M(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTGTTCGTGAAGGAGAA	0.662																																						uc003lhl.2		NaN																	2	Substitution - Missense(2)		endometrium(2)	ovary(1)|breast(1)|skin(1)	3						c.(1387-1389)GTG>ATG		protocadherin alpha 5 isoform 1 precursor							69.0	73.0	71.0					5																	140202747		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202747G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1387G>A	5.37:g.140202747G>A	ENSP00000436557:p.Val463Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V463M|PCDHA5_uc003lhj.1_Missense_Mutation_p.V463M	p.V463M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1387	+			463			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1387G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743346	0.49151	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.58358	0.34;0.34;0.34	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72985	0.3529	M	0.87097	2.86	0.22521	N	0.999028	D;D;D	0.89917	1.0;1.0;0.998	D;P;P	0.79108	0.992;0.887;0.887	T	0.62258	-0.6892	9	0.87932	D	0	.	8.6674	0.34130	0.1834:0.0:0.8166:0.0	.	463;463;463	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	M	463	ENSP00000433416:V463M;ENSP00000436557:V463M;ENSP00000367366:V463M	ENSP00000367366:V463M	V	+	1	0	PCDHA5	140182931	0.954000	0.32549	1.000000	0.80357	0.829000	0.46940	1.818000	0.39012	1.864000	0.54056	0.461000	0.40582	GTG		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908		28	94	0	0	0	0.00632	0	28	94		
PCDHA6	56142	broad.mit.edu	37	5	140209836	140209836	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140209836G>A	ENST00000529310.1	+	1	2274	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	720					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACAGCGCTGCGGTGCT	0.677																																						uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2158-2160)GCG>GCA		protocadherin alpha 6 isoform 1 precursor							49.0	49.0	49.0					5																	140209836		2203	4298	6501	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209836G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2160G>A	5.37:g.140209836G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.A720A	p.A720A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2187	+			720			Cytoplasmic (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2160G>A	CCDS47281.1																																																																																				0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		12	79	0	0	0	0.000978	0	12	79		
PCDHA8	56140	broad.mit.edu	37	5	140222611	140222611	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140222611C>G	ENST00000531613.1	+	1	1705	c.1705C>G	c.(1705-1707)Cgg>Ggg	p.R569G	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R569G|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	569					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R569W(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAGCCTCGGGTGGGTGG	0.721																																						uc003lhs.2		NaN																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1705-1707)CGG>GGG		protocadherin alpha 8 isoform 1 precursor							49.0	55.0	53.0					5																	140222611		2196	4262	6458	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222611C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1705C>G	5.37:g.140222611C>G	ENSP00000434655:p.Arg569Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R569G	p.R569G	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1705	+			569			Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1705C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	8.352	0.831198	0.16820	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.63744	-0.06;-0.06	3.71	-4.18	0.03846	Cadherin-like (1);	1.949110	0.03815	N	0.266655	T	0.45155	0.1328	L	0.39326	1.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.12041	-1.0563	10	0.13853	T	0.58	.	3.5883	0.07979	0.1001:0.4786:0.1768:0.2445	.	569;569	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	G	569	ENSP00000434655:R569G;ENSP00000367363:R569G	ENSP00000367363:R569G	R	+	1	2	PCDHA8	140202795	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-0.064000	0.11636	-0.477000	0.06832	0.306000	0.20318	CGG		0.721	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		36	76	0	0	0	0.005524	0	36	76		
PCDHA9	9752	broad.mit.edu	37	5	140228108	140228108	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140228108G>C	ENST00000532602.1	+	1	1061	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E10Q|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGATCCAGAGGGTCAGCC	0.493																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(28-30)GAG>CAG		protocadherin alpha 9 isoform 1 precursor							84.0	85.0	84.0					5																	140228108		2197	4269	6466	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228108G>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.28G>C	5.37:g.140228108G>C	ENSP00000436042:p.Glu10Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.E10Q	p.E10Q	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	752	+			10					O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.28G>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498247	0.12762	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.79;0.72	3.73	0.843	0.18935	Cadherin (1);	.	.	.	.	T	0.24774	0.0601	N	0.10685	0.025	0.09310	N	1	B;B	0.26195	0.001;0.144	B;B	0.24701	0.004;0.055	T	0.19516	-1.0303	9	0.62326	D	0.03	.	5.2561	0.15548	0.2039:0.1693:0.6268:0.0	.	10;10	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	10	ENSP00000436042:E10Q;ENSP00000367362:E10Q	ENSP00000367362:E10Q	E	+	1	0	PCDHA9	140208292	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.098000	0.15189	0.030000	0.15379	0.591000	0.81541	GAG		0.493	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		50	113	0	0	0	0.00361	0	50	113		
PCDHA10	56139	broad.mit.edu	37	5	140236081	140236081	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140236081C>G	ENST00000307360.5	+	1	448	c.448C>G	c.(448-450)Cga>Gga	p.R150G	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R150G|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	150	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R150*(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGATTTCCACT	0.438																																						uc003lhx.2		NaN																	2	Substitution - Nonsense(2)		large_intestine(2)	ovary(2)|skin(2)|breast(1)	5						c.(448-450)CGA>GGA		protocadherin alpha 10 isoform 1 precursor							123.0	129.0	127.0					5																	140236081		2197	4270	6467	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236081C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.448C>G	5.37:g.140236081C>G	ENSP00000304234:p.Arg150Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R150G|PCDHA10_uc011dad.1_Missense_Mutation_p.R150G	p.R150G	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	448	+			150			Extracellular (Potential).|Cadherin 2.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.448C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226738	0.39399	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20738	2.05;2.05	4.38	-1.3	0.09259	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.56262	0.1973	H	0.96430	3.82	0.09310	N	1	D;P;D	0.63046	0.992;0.934;0.987	D;P;P	0.63597	0.916;0.619;0.84	T	0.60520	-0.7247	9	0.87932	D	0	.	16.0496	0.80745	0.6466:0.3534:0.0:0.0	.	150;150;150	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	150	ENSP00000421030:R150G;ENSP00000304234:R150G	ENSP00000304234:R150G	R	+	1	2	PCDHA10	140216265	0.000000	0.05858	0.414000	0.26521	0.980000	0.70556	-0.585000	0.05794	-0.067000	0.12976	-0.314000	0.08810	CGA		0.438	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901		66	130	0	0	0	0.00361	0	66	130		
PCDHB6	56130	broad.mit.edu	37	5	140530815	140530815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140530815C>T	ENST00000231136.1	+	1	977	c.977C>T	c.(976-978)tCa>tTa	p.S326L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S190L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	326	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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCCTATCAGGAAAATGC	0.468																																						uc003lir.2		NaN																	0				skin(1)	1						c.(976-978)TCA>TTA		protocadherin beta 6 precursor							91.0	93.0	93.0					5																	140530815		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530815C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.977C>T	5.37:g.140530815C>T	ENSP00000231136:p.Ser326Leu					PCDHB6_uc011dah.1_Missense_Mutation_p.S190L	p.S326L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	977	+			326			Cadherin 3.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.977C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926427	0.34002	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01821	4.62;4.62	4.84	4.84	0.62591	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05090	0.0136	M	0.81682	2.555	0.24048	N	0.996058	B	0.12630	0.006	B	0.26416	0.069	T	0.06917	-1.0800	9	0.59425	D	0.04	.	13.9695	0.64230	0.0:0.8481:0.1519:0.0	.	326	Q9Y5E3	PCDB6_HUMAN	L	190;326;111	ENSP00000438466:S190L;ENSP00000231136:S326L	ENSP00000231136:S326L	S	+	2	0	PCDHB6	140510999	0.000000	0.05858	0.930000	0.37139	0.374000	0.29953	0.543000	0.23237	2.384000	0.81235	0.549000	0.68633	TCA		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2		NM_018939		17	48	0	0	0	0.004007	0	17	48		
PCDHB7	56129	broad.mit.edu	37	5	140554506	140554506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140554506C>T	ENST00000231137.3	+	1	2264	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	697					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.706																																						uc003lit.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2089-2091)TCG>TTG		protocadherin beta 7 precursor							70.0	112.0	98.0					5																	140554506		2202	4292	6494	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554506C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2090C>T	5.37:g.140554506C>T	ENSP00000231137:p.Ser697Leu					PCDHB8_uc011dai.1_5'Flank	p.S697L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2264	+			697			Helical; (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2090C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601589	0.46423	.	.	ENSG00000113212	ENST00000231137	T	0.12984	2.63	3.77	2.55	0.30701	.	.	.	.	.	T	0.15262	0.0368	M	0.80616	2.505	0.31558	N	0.657896	P	0.39157	0.662	B	0.37015	0.239	T	0.11891	-1.0569	9	0.33940	T	0.23	.	3.2782	0.06906	0.0:0.5218:0.0:0.4782	.	697	Q9Y5E2	PCDB7_HUMAN	L	697	ENSP00000231137:S697L	ENSP00000231137:S697L	S	+	2	0	PCDHB7	140534690	0.000000	0.05858	0.999000	0.59377	0.941000	0.58515	-0.153000	0.10144	1.808000	0.52836	0.449000	0.29647	TCG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		35	375	0	0	0	0.003755	0	35	375		
PCDHB11	56125	broad.mit.edu	37	5	140580555	140580555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140580555T>A	ENST00000354757.3	+	1	1208	c.1208T>A	c.(1207-1209)tTg>tAg	p.L403*	PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.L38*	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTACACGTTGGAAACAGAG	0.478																																						uc003liy.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1207-1209)TTG>TAG		protocadherin beta 11 precursor							111.0	110.0	110.0					5																	140580555		2203	4300	6503	SO:0001587	stop_gained	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580555T>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1208T>A	5.37:g.140580555T>A	ENSP00000346802:p.Leu403*					PCDHB11_uc011daj.1_Nonsense_Mutation_p.L38*	p.L403*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1208	+			403			Extracellular (Potential).|Cadherin 4.		B4DSF7|Q2M223	Nonsense_Mutation	SNP	ENST00000354757.3	37	c.1208T>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	T	39	7.790931	0.98492	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	.	.	.	2.52	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4304	0.44405	0.0:0.0:0.0:1.0	.	.	.	.	X	38;403;91	.	ENSP00000346802:L403X	L	+	2	0	PCDHB11	140560739	0.781000	0.28676	0.002000	0.10522	0.847000	0.48162	4.961000	0.63681	1.164000	0.42652	0.254000	0.18369	TTG		0.478	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931		20	114	0	0	0	0.001882	0	20	114		
PCDHB13	56123	broad.mit.edu	37	5	140596055	140596055	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140596055C>G	ENST00000341948.4	+	1	2547	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	787					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGAAATTCTACCTTCCCC	0.428																																						uc003lja.1		NaN																	0				skin(2)|ovary(1)	3						c.(2359-2361)TCT>TGT		protocadherin beta 13 precursor							83.0	88.0	86.0					5																	140596055		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140596055C>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2360C>G	5.37:g.140596055C>G	ENSP00000345491:p.Ser787Cys						p.S787C	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2547	+			787			Cytoplasmic (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2360C>G	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	11.27	1.588675	0.28357	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51574	0.7	4.21	2.39	0.29439	.	.	.	.	.	T	0.49304	0.1549	M	0.84683	2.71	0.09310	N	1	P	0.43412	0.806	B	0.41299	0.353	T	0.51036	-0.8756	9	0.87932	D	0	.	3.9492	0.09361	0.1687:0.5773:0.163:0.091	.	787	Q9Y5F0	PCDBD_HUMAN	C	787;787;733	ENSP00000345491:S787C	ENSP00000345491:S787C	S	+	2	0	PCDHB13	140576239	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.251000	0.08818	0.357000	0.24183	0.313000	0.20887	TCT		0.428	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933		14	76	0	0	0	0.003163	0	14	76		
PCDHGA3	56112	broad.mit.edu	37	5	140724723	140724723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140724723G>C	ENST00000253812.6	+	1	1123	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGACCGAGATTCTGGGCA	0.448																																						uc003ljm.1		NaN																	0				breast(1)	1						c.(1123-1125)GAT>CAT		protocadherin gamma subfamily A, 3 isoform 1							117.0	119.0	118.0					5																	140724723		1951	4166	6117	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724723G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1123G>C	5.37:g.140724723G>C	ENSP00000253812:p.Asp375His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.D135H|PCDHGA3_uc011dap.1_Missense_Mutation_p.D375H	p.D375H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1123	+			375			Cadherin 4.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1123G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.060040	0.76074	.	.	ENSG00000254245	ENST00000253812	T	0.74632	-0.86	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.34025	U	0.004322	D	0.93419	0.7901	H	0.99777	4.77	0.46678	D	0.999159	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96344	0.9253	10	0.87932	D	0	.	19.1813	0.93625	0.0:0.0:1.0:0.0	.	375;375	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	375	ENSP00000253812:D375H	ENSP00000253812:D375H	D	+	1	0	PCDHGA3	140704907	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	9.513000	0.98010	2.709000	0.92574	0.655000	0.94253	GAT		0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1		NM_018916		23	99	0	0	0	0.00333	0	23	99		
PCDHGB3	56102	broad.mit.edu	37	5	140750497	140750497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140750497C>G	ENST00000576222.1	+	1	667	c.536C>G	c.(535-537)tCt>tGt	p.S179C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCACTTCTCTTTGATTCAG	0.542																																						uc003ljw.1		NaN																	0					0						c.(535-537)TCT>TGT		protocadherin gamma subfamily B, 3 isoform 1							15.0	15.0	15.0					5																	140750497		1948	4023	5971	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750497C>G	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.536C>G	5.37:g.140750497C>G	ENSP00000461862:p.Ser179Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.S179C	p.S179C	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	536	+			179			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.536C>G	CCDS58980.1																																																																																				0.542	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		92	170	0	0	0	0.00361	0	92	170		
PCDHGB4	8641	broad.mit.edu	37	5	140769071	140769071	+	Silent	SNP	C	C	G	rs564944158		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140769071C>G	ENST00000519479.1	+	1	1620	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAGCGCTCAGCGCGAACG	0.701																																						uc003lkc.1		NaN																	0					0						c.(1618-1620)CTC>CTG		protocadherin gamma subfamily B, 4 isoform 1							31.0	38.0	36.0					5																	140769071		2073	4212	6285	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769071C>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1620C>G	5.37:g.140769071C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.L540L	p.L540L	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1620	+			540			Cadherin 5.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1620C>G	CCDS54928.1																																																																																				0.701	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736		7	50	0	0	0	0.001984	0	7	50		
PCDHGB6	56100	broad.mit.edu	37	5	140788139	140788139	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:140788139G>A	ENST00000520790.1	+	1	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGATTGAGGATGTTAA	0.398																																						uc003lkj.1		NaN																	0					0						c.(370-372)GAG>AAG		protocadherin gamma subfamily B, 6 isoform 1							140.0	143.0	142.0					5																	140788139		1832	4089	5921	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788139G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.370G>A	5.37:g.140788139G>A	ENSP00000428603:p.Glu124Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.E124K	p.E124K	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	370	+			124			Extracellular (Potential).|Cadherin 1.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.370G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	2.882	-0.231606	0.05983	.	.	ENSG00000253305	ENST00000520790	T	0.38240	1.15	5.16	4.27	0.50696	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.24967	0.0606	L	0.37897	1.145	0.21841	N	0.999511	B;B	0.25955	0.04;0.138	B;B	0.26614	0.058;0.071	T	0.21965	-1.0230	9	0.07175	T	0.84	.	9.4011	0.38433	0.0932:0.2358:0.671:0.0	.	124;124	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	K	124	ENSP00000428603:E124K	ENSP00000428603:E124K	E	+	1	0	PCDHGB6	140768323	0.001000	0.12720	0.998000	0.56505	0.694000	0.40290	0.547000	0.23299	2.399000	0.81585	0.467000	0.42956	GAG		0.398	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1		NM_018926		47	88	0	0	0	0.00361	0	47	88		
ARAP3	64411	broad.mit.edu	37	5	141041670	141041670	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:141041670G>A	ENST00000239440.4	-	20	3018	c.2953C>T	c.(2953-2955)Cgt>Tgt	p.R985C	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R647C|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	985	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGAGCTCACGAAAGAAGCGT	0.592																																						uc003llm.2		NaN																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(2953-2955)CGT>TGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							142.0	128.0	133.0					5																	141041670		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141041670G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2953C>T	5.37:g.141041670G>A	ENSP00000239440:p.Arg985Cys					ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.R647C|ARAP3_uc003lln.2_Intron	p.R985C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			20	3031	-			985			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2953C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051924	0.75960	.	.	ENSG00000120318	ENST00000239440;ENST00000513878	T;T	0.28666	1.6;1.6	5.54	5.54	0.83059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.91635	0.614;0.999	T	0.79240	-0.1885	10	0.72032	D	0.01	.	14.1527	0.65398	0.0:0.0:0.8501:0.1499	.	647;985	B4DIT1;Q8WWN8	.;ARAP3_HUMAN	C	985;647	ENSP00000239440:R985C;ENSP00000421468:R647C	ENSP00000239440:R985C	R	-	1	0	ARAP3	141021854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.529000	0.45632	2.890000	0.99128	0.650000	0.86243	CGT		0.592	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		NM_022481		22	103	0	0	0	0.003954	0	22	103		
GRXCR2	643226	broad.mit.edu	37	5	145252372	145252372	+	Silent	SNP	G	G	A	rs150272088	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:145252372G>A	ENST00000377976.1	-	1	159	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	54						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GACTCTTGCAGAAAACTGTGA	0.493																																						uc003lns.1		NaN																	0					0						c.(160-162)CTG>TTG		glutaredoxin, cysteine rich 2		G		3,4403	6.2+/-15.9	0,3,2200	116.0	114.0	115.0		160	4.1	1.0	5	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRXCR2	NM_001080516.1		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		54/249	145252372	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145252372G>A		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.160C>T	5.37:g.145252372G>A							p.L54L	NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN			1	160	-			54						Silent	SNP	ENST00000377976.1	37	c.160C>T	CCDS34263.1																																																																																				0.493	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2				40	92	0	0	0	0.005524	0	40	92		
RBM27	54439	broad.mit.edu	37	5	145641356	145641356	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:145641356G>A	ENST00000265271.5	+	13	2343	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	RBM27_ENST00000506502.1_Missense_Mutation_p.G671E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	726					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTGCACGGAGGTATCCAG	0.478																																						uc003lnz.3		NaN																	0				central_nervous_system(2)|pancreas(1)	3						c.(2176-2178)GGA>GAA		RNA binding motif protein 27							58.0	51.0	53.0					5																	145641356		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641356G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2177G>A	5.37:g.145641356G>A	ENSP00000265271:p.Gly726Glu					RBM27_uc003lny.2_Missense_Mutation_p.G671E	p.G726E	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2343	+			726					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2177G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838655	0.32513	.	.	ENSG00000091009	ENST00000265271	T	0.40476	1.03	5.36	5.36	0.76844	.	0.078709	0.53938	D	0.000059	T	0.30230	0.0758	L	0.29908	0.895	0.41204	D	0.986394	D;B	0.54047	0.964;0.131	B;B	0.42112	0.376;0.039	T	0.15694	-1.0428	10	0.02654	T	1	-16.3387	17.2574	0.87061	0.0:0.0:1.0:0.0	.	726;671	Q9P2N5;B3KY61	RBM27_HUMAN;.	E	726	ENSP00000265271:G726E	ENSP00000265271:G726E	G	+	2	0	RBM27	145621549	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.941000	0.70195	2.513000	0.84729	0.561000	0.74099	GGA		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128		11	39	0	0	0	0.000978	0	11	39		
ARHGEF37	389337	broad.mit.edu	37	5	149006694	149006694	+	Missense_Mutation	SNP	C	C	G	rs370902953		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149006694C>G	ENST00000333677.6	+	11	1683	c.1520C>G	c.(1519-1521)cCt>cGt	p.P507R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	507	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGTATGGCCCTGGGAAGCTG	0.577																																						uc003lra.1		NaN																	0					0						c.(1519-1521)CCT>CGT		hypothetical protein LOC389337							95.0	109.0	105.0					5																	149006694		2118	4213	6331	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006694C>G	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1520C>G	5.37:g.149006694C>G	ENSP00000328083:p.Pro507Arg						p.P507R	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			11	1584	+			507			SH3 1.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1520C>G	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651425	0.47362	.	.	ENSG00000183111	ENST00000333677	T	0.54675	0.56	5.39	3.62	0.41486	Src homology-3 domain (1);	0.269482	0.44097	D	0.000497	T	0.64929	0.2643	M	0.77820	2.39	0.42202	D	0.991776	D	0.65815	0.995	P	0.59948	0.866	T	0.65360	-0.6187	10	0.66056	D	0.02	.	6.5478	0.22416	0.1447:0.7048:0.0:0.1505	.	507	A1IGU5	ARH37_HUMAN	R	507	ENSP00000328083:P507R	ENSP00000328083:P507R	P	+	2	0	ARHGEF37	148986887	0.995000	0.38212	0.405000	0.26409	0.152000	0.21847	3.922000	0.56462	0.655000	0.30866	0.561000	0.74099	CCT		0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1		NM_001001669		25	146	0	0	0	0.003954	0	25	146		
TCOF1	6949	broad.mit.edu	37	5	149748414	149748414	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:149748414G>A	ENST00000504761.2	+	5	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TCOF1_ENST00000513346.1_Missense_Mutation_p.E172K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E172K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E172K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E172K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E172K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E172K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E172K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	172					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGGTCTCAGAAACTGAGGA	0.582																																						uc003lry.2		NaN																	0				ovary(2)|large_intestine(1)	3	GRCh37	CD023536	TCOF1	D		c.(514-516)GAA>AAA		Treacher Collins-Franceschetti syndrome 1							55.0	57.0	56.0					5																	149748414		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149748414G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.514G>A	5.37:g.149748414G>A	ENSP00000421655:p.Glu172Lys					TCOF1_uc003lrw.2_Missense_Mutation_p.E172K|TCOF1_uc011dch.1_Missense_Mutation_p.E172K|TCOF1_uc003lrz.2_Missense_Mutation_p.E172K|TCOF1_uc003lrx.2_Missense_Mutation_p.E172K|TCOF1_uc003lsa.2_Missense_Mutation_p.E172K	p.E172K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	622	+		all_hematologic(541;0.224)	172					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.514G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228651	0.22542	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.76839	-0.95;-0.96;-1.04;-1.05;-0.95;1.53;-0.95;-0.95;-0.95	3.91	3.04	0.35103	.	0.000000	0.41500	D	0.000861	T	0.72293	0.3442	M	0.63428	1.95	0.25114	N	0.990691	P;P;P;P;P;P	0.46142	0.715;0.873;0.715;0.593;0.873;0.873	B;B;B;B;B;B	0.42555	0.174;0.391;0.174;0.084;0.391;0.391	T	0.66148	-0.5996	10	0.52906	T	0.07	-18.9278	7.2627	0.26212	0.1187:0.0:0.8813:0.0	.	172;172;172;172;172;172	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	K	172	ENSP00000400939:E172K;ENSP00000367028:E172K;ENSP00000409944:E172K;ENSP00000325223:E172K;ENSP00000406888:E172K;ENSP00000377811:E172K;ENSP00000390717:E172K;ENSP00000421655:E172K;ENSP00000427484:E172K	ENSP00000325223:E172K	E	+	1	0	TCOF1	149728607	1.000000	0.71417	0.997000	0.53966	0.056000	0.15407	2.304000	0.43655	1.222000	0.43521	0.462000	0.41574	GAA		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656		21	54	0	0	0	0.001882	0	21	54		
LARP1	23367	broad.mit.edu	37	5	154173531	154173531	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154173531G>T	ENST00000336314.4	+	6	833	c.809G>T	c.(808-810)gGc>gTc	p.G270V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	347					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGGTCGCGGCCGGGGACGC	0.692																																						uc003lvp.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1039-1041)GGC>GTC		la related protein isoform 2							38.0	44.0	42.0					5																	154173531		2201	4296	6497	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154173531G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.809G>T	5.37:g.154173531G>T	ENSP00000336721:p.Gly270Val					LARP1_uc003lvo.2_Missense_Mutation_p.G270V|LARP1_uc010jie.1_Missense_Mutation_p.G142V	p.G347V	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		6	1469	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	347					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1040G>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073200	0.94000	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.41758	0.99;0.99;0.99	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.51639	-0.8680	10	0.36615	T	0.2	-14.3345	20.063	0.97692	0.0:0.0:1.0:0.0	.	347;270	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	V	270;347;142	ENSP00000336721:G270V;ENSP00000428589:G347V;ENSP00000429904:G142V	ENSP00000336721:G270V	G	+	2	0	LARP1	154153724	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.664000	0.98607	2.735000	0.93741	0.655000	0.94253	GGC		0.692	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551		6	80	1	0	3.59834e-05	0.001168	4.30724e-05	6	80		
KIF4B	285643	broad.mit.edu	37	5	154393975	154393975	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:154393975G>T	ENST00000435029.4	+	1	716	c.556G>T	c.(556-558)Gat>Tat	p.D186Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	186	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTGCCTTGGATACTGTTTC	0.468																																						uc010jih.1		NaN																	0				ovary(1)	1						c.(556-558)GAT>TAT		kinesin family member 4B							189.0	183.0	185.0					5																	154393975		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393975G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.556G>T	5.37:g.154393975G>T	ENSP00000387875:p.Asp186Tyr						p.D186Y	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	716	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	186			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.556G>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	10.07	1.249572	0.22880	.	.	ENSG00000226650	ENST00000435029	T	0.75050	-0.9	1.73	-0.183	0.13284	Kinesin, motor domain (4);	.	.	.	.	T	0.79015	0.4375	M	0.93550	3.43	0.32952	D	0.51984	B	0.23058	0.079	B	0.32928	0.155	T	0.77408	-0.2599	9	0.87932	D	0	.	5.7094	0.17927	0.3359:0.0:0.6641:0.0	.	186	Q2VIQ3	KIF4B_HUMAN	Y	186	ENSP00000387875:D186Y	ENSP00000387875:D186Y	D	+	1	0	KIF4B	154374168	1.000000	0.71417	0.008000	0.14137	0.625000	0.37756	3.857000	0.55972	-0.064000	0.13043	-0.137000	0.14449	GAT		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1				10	224	1	0	0.00621372	0.006214	0.00734024	10	224		
TIMD4	91937	broad.mit.edu	37	5	156353320	156353320	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:156353320G>C	ENST00000274532.2	-	6	904	c.848C>G	c.(847-849)tCt>tGt	p.S283C	TIMD4_ENST00000406964.1_De_novo_Start_OutOfFrame|TIMD4_ENST00000407087.3_Missense_Mutation_p.S255C	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	283						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGTATCAGATGCTGGGAA	0.358																																						uc003lwh.2		NaN																	0				ovary(2)	2						c.(847-849)TCT>TGT		T-cell immunoglobulin and mucin domain							162.0	147.0	152.0					5																	156353320		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156353320G>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.848C>G	5.37:g.156353320G>C	ENSP00000274532:p.Ser283Cys					TIMD4_uc010jii.2_Missense_Mutation_p.S255C|TIMD4_uc003lwg.2_Translation_Start_Site	p.S283C	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	905	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	283			Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.848C>G	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956609	0.34565	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.25414	1.8;2.06	4.3	1.53	0.23141	.	15.980600	0.00166	N	0.000003	T	0.28995	0.0720	N	0.14661	0.345	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.56865	0.808;0.808	T	0.18681	-1.0329	10	0.62326	D	0.03	17.6671	6.1588	0.20352	0.3245:0.0:0.6755:0.0	.	255;283	B5MCL9;Q96H15	.;TIMD4_HUMAN	C	283;255	ENSP00000274532:S283C;ENSP00000385973:S255C	ENSP00000274532:S283C	S	-	2	0	TIMD4	156285898	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.209000	0.17435	0.198000	0.20407	0.650000	0.86243	TCT		0.358	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1		NM_138379		9	31	0	0	0	0.008291	0	9	31		
GABRA6	2559	broad.mit.edu	37	5	161116300	161116300	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:161116300T>G	ENST00000274545.5	+	5	920	c.487T>G	c.(487-489)Ttt>Gtt	p.F163V	GABRA6_ENST00000523217.1_Missense_Mutation_p.F153V|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	163					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCTGGTTAACTTTCCTATGGA	0.398										TCGA Ovarian(5;0.080)																												uc003lyu.2		NaN																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(487-489)TTT>GTT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						140.0	126.0	131.0					5																	161116300		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116300T>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.487T>G	5.37:g.161116300T>G	ENSP00000274545:p.Phe163Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.F163V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	825	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	163			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.487T>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698119	0.88830	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97882	1.0292	10	0.87932	D	0	.	16.0395	0.80654	0.0:0.0:0.0:1.0	.	163	Q16445	GBRA6_HUMAN	V	163;153;110;58	ENSP00000274545:F163V;ENSP00000430527:F153V;ENSP00000430212:F110V;ENSP00000427989:F58V	ENSP00000274545:F163V	F	+	1	0	GABRA6	161048878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.946000	0.87746	2.188000	0.69820	0.533000	0.62120	TTT		0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2				23	89	0	0	0	0.004656	0	23	89		
SLIT3	6586	broad.mit.edu	37	5	168119694	168119694	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:168119694C>T	ENST00000519560.1	-	29	3513	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D1039N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1032N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1032	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCACCTCGTCGCATAGCTCA	0.577																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NaN																	0				ovary(3)|skin(1)	4						c.(3094-3096)GAC>AAC		slit homolog 3 precursor							98.0	70.0	79.0					5																	168119694		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168119694C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3094G>A	5.37:g.168119694C>T	ENSP00000430333:p.Asp1032Asn					SLIT3_uc010jjg.2_Missense_Mutation_p.D1039N	p.D1032N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		29	3514	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1032			EGF-like 3.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3094G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071530	0.76301	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91843	-2.92;-2.92;-2.92	5.12	5.12	0.69794	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.091326	0.64402	D	0.000001	D	0.89962	0.6867	L	0.45744	1.44	0.80722	D	1	P	0.47034	0.889	B	0.41174	0.349	D	0.91609	0.5301	10	0.87932	D	0	.	17.5787	0.87958	0.0:1.0:0.0:0.0	.	1032	O75094	SLIT3_HUMAN	N	1032;1039;1032	ENSP00000430333:D1032N;ENSP00000332164:D1039N;ENSP00000384890:D1032N	ENSP00000332164:D1039N	D	-	1	0	SLIT3	168052272	1.000000	0.71417	0.566000	0.28421	0.277000	0.26821	7.240000	0.78192	2.384000	0.81235	0.655000	0.94253	GAC		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062		15	36	0	0	0	0.004007	0	15	36		
NSD1	64324	broad.mit.edu	37	5	176637917	176637917	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176637917G>A	ENST00000439151.2	+	5	2562	c.2517G>A	c.(2515-2517)ctG>ctA	p.L839L	NSD1_ENST00000361032.4_Silent_p.L736L|NSD1_ENST00000347982.4_Silent_p.L570L|NSD1_ENST00000354179.4_Silent_p.L570L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	839					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAAAACTACTGAACAATATGC	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(2515-2517)CTG>CTA		nuclear receptor binding SET domain protein 1							100.0	100.0	100.0					5																	176637917		2203	4300	6503	SO:0001819	synonymous_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637917G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2517G>A	5.37:g.176637917G>A		HNSCC(47;0.14)				NSD1_uc003mft.3_Silent_p.L570L|NSD1_uc003mfs.1_Silent_p.L736L|NSD1_uc011dfx.1_Silent_p.L487L	p.L839L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2655	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	839					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.2517G>A	CCDS4412.1																																																																																				0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		16	52	0	0	0	0.004007	0	16	52		
PFN3	345456	broad.mit.edu	37	5	176827416	176827416	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:176827416C>T	ENST00000358571.2	-	1	221	c.162G>A	c.(160-162)ccG>ccA	p.P54P	F12_ENST00000514943.1_5'Flank	NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	54					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	lipid binding (GO:0008289)			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGCCTGTCCGGCCCCGTGA	0.746																																						uc003mgl.2		NaN																	0					0						c.(160-162)CCG>CCA		profilin 3							3.0	4.0	4.0					5																	176827416		1872	3704	5576	SO:0001819	synonymous_variant	345456				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr5:176827416C>T	AC090063	CCDS34301.1	5q35.2	2008-08-26			ENSG00000196570	ENSG00000196570			18627	protein-coding gene	gene with protein product		612812				11867228	Standard	NM_001029886		Approved		uc003mgl.2	P60673	OTTHUMG00000163408	ENST00000358571.2:c.162G>A	5.37:g.176827416C>T							p.P54P	NM_001029886	NP_001025057	P60673	PROF3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	222	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	54					A2RUL3	Silent	SNP	ENST00000358571.2	37	c.162G>A	CCDS34301.1																																																																																				0.746	PFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373234.1		NM_001029886		4	5	0	0	0	0.000248	0	4	5		
COL23A1	91522	broad.mit.edu	37	5	177690292	177690292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:177690292G>C	ENST00000390654.3	-	9	913	c.556C>G	c.(556-558)Ccg>Gcg	p.P186A	COL23A1_ENST00000407622.1_Missense_Mutation_p.P150A	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	186	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGGGGCCCCGGAGGCCCAGCA	0.672																																						uc003mje.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(556-558)CCG>GCG		collagen, type XXIII, alpha 1							21.0	23.0	22.0					5																	177690292		1840	4082	5922	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177690292G>C	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.556C>G	5.37:g.177690292G>C	ENSP00000375069:p.Pro186Ala					COL23A1_uc010jkt.2_Silent_p.L33L	p.P186A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	9	914	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	186			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.556C>G	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640210	0.29157	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.98633	-5.04;-5.04	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000004	D	0.97334	0.9128	M	0.73372	2.23	0.43275	D	0.995237	B	0.27416	0.178	B	0.36289	0.221	D	0.95646	0.8702	10	0.07175	T	0.84	-4.6344	12.22	0.54429	0.0:0.0:1.0:0.0	.	186	Q86Y22	CONA1_HUMAN	A	186;150	ENSP00000375069:P186A;ENSP00000385092:P150A	ENSP00000375069:P186A	P	-	1	0	COL23A1	177622898	1.000000	0.71417	0.942000	0.38095	0.515000	0.34225	8.047000	0.89440	1.948000	0.56530	0.313000	0.20887	CCG		0.672	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1		NM_173465		11	21	0	0	0	0.001855	0	11	21		
RNF130	55819	broad.mit.edu	37	5	179390562	179390562	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179390562C>T	ENST00000521389.1	-	8	1568	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	RNF130_ENST00000522208.2_Intron|RNF130_ENST00000261947.4_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAACCATTCTTCTGTTGAC	0.448																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1		NaN																	0				lung(2)|ovary(1)	3						c.(1153-1155)GAA>AAA		ring finger protein 130 precursor							111.0	91.0	98.0					5																	179390562		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179390562C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1153G>A	5.37:g.179390562C>T	ENSP00000430237:p.Glu385Lys					RNF130_uc003mlm.1_Intron	p.E385K	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1560	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	385			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000521389.1	37	c.1153G>A	CCDS4451.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742316	0.69418	.	.	ENSG00000113269	ENST00000521389	T	0.04551	3.6	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000004	T	0.03608	0.0103	N	0.08118	0	0.80722	D	1	P	0.44734	0.842	B	0.35114	0.196	T	0.53725	-0.8398	10	0.72032	D	0.01	.	19.9239	0.97097	0.0:1.0:0.0:0.0	.	385	Q86XS8	GOLI_HUMAN	K	385	ENSP00000430237:E385K	ENSP00000430237:E385K	E	-	1	0	RNF130	179323168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.643000	0.61390	2.716000	0.92895	0.561000	0.74099	GAA		0.448	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3		NM_018434		8	11	0	0	0	0.008291	0	8	11		
GFPT2	9945	broad.mit.edu	37	5	179745840	179745840	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:179745840G>C	ENST00000253778.8	-	10	1080	c.911C>G	c.(910-912)tCt>tGt	p.S304C	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	304					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATGGCTCGAGATGGGTCATC	0.607																																						uc003mlw.1		NaN																	0				ovary(1)|skin(1)	2						c.(910-912)TCT>TGT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						60.0	68.0	66.0					5																	179745840		2138	4241	6379	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179745840G>C	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.911C>G	5.37:g.179745840G>C	ENSP00000253778:p.Ser304Cys						p.S304C	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1009	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	304					Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.911C>G	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765419	0.69878	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T	0.45276	0.9	5.4	4.52	0.55395	.	0.109437	0.64402	D	0.000005	T	0.47173	0.1431	M	0.67397	2.05	0.46499	D	0.99907	P	0.41393	0.748	B	0.42882	0.401	T	0.46247	-0.9205	9	.	.	.	-4.9587	15.9933	0.80223	0.0:0.1351:0.8649:0.0	.	304	O94808	GFPT2_HUMAN	C	304;206	ENSP00000253778:S304C	.	S	-	2	0	GFPT2	179678446	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.411000	0.59781	1.259000	0.44117	0.561000	0.74099	TCT		0.607	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4		NM_005110		14	37	0	0	0	0.00245	0	14	37		
FLT4	2324	broad.mit.edu	37	5	180041111	180041111	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:180041111G>A	ENST00000261937.6	-	24	3366	c.3288C>T	c.(3286-3288)gaC>gaT	p.D1096D	FLT4_ENST00000393347.3_Silent_p.D1096D|FLT4_ENST00000502649.1_Silent_p.D1096D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1096	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGACCACACGTCACTCTGCG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NaN																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(3286-3288)GAC>GAT		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						161.0	144.0	150.0					5																	180041111		2203	4300	6503	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180041111G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3288C>T	5.37:g.180041111G>A						FLT4_uc003mlz.3_Silent_p.D1096D	p.D1096D	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	24	3367	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1096			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3288C>T	CCDS4457.1																																																																																				0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4				33	51	0	0	0	0.003755	0	33	51		
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7229506C>T	ENST00000349384.6	+	10	1488	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q392*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	392					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1174-1176)CAG>TAG		ras responsive element binding protein 1 isoform							38.0	39.0	38.0					6																	7229506		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229506C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1174C>T	6.37:g.7229506C>T	ENSP00000305560:p.Gln392*					RREB1_uc003mxb.2_Nonsense_Mutation_p.Q392*|RREB1_uc010jnx.2_Nonsense_Mutation_p.Q392*	p.Q392*	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1564	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	392					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.1174C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	38	7.206713	0.98136	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.84	4.97	0.65823	.	0.141721	0.33290	N	0.005074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-46.2541	14.6869	0.69055	0.0:0.9305:0.0:0.0695	.	.	.	.	X	392	.	ENSP00000335574:Q392X	Q	+	1	0	RREB1	7174505	1.000000	0.71417	0.943000	0.38184	0.948000	0.59901	3.403000	0.52615	1.472000	0.48140	0.561000	0.74099	CAG		0.622	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				8	38	0	0	0	0.00308	0	8	38		
DSP	1832	broad.mit.edu	37	6	7583844	7583844	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:7583844G>C	ENST00000379802.3	+	24	6690	c.6349G>C	c.(6349-6351)Gat>Cat	p.D2117H	DSP_ENST00000418664.2_Missense_Mutation_p.D1518H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2117	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2117Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAATTTGATTGATAGAGAAAC	0.443																																						uc003mxp.1		NaN																	1	Substitution - Missense(1)		kidney(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6349-6351)GAT>CAT		desmoplakin isoform I							69.0	77.0	74.0					6																	7583844		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583844G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6349G>C	6.37:g.7583844G>C	ENSP00000369129:p.Asp2117His					DSP_uc003mxq.1_Missense_Mutation_p.D1518H	p.D2117H	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6628	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2117			Globular 2.|Plectin 3.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6349G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160082	0.57368	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72615	-0.67;-0.67	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000010	T	0.64182	0.2575	N	0.22421	0.69	0.23132	N	0.998246	D;D	0.71674	0.998;0.991	D;P	0.66196	0.942;0.818	T	0.61826	-0.6983	10	0.56958	D	0.05	.	13.9753	0.64268	0.0:0.0:0.8485:0.1515	.	1565;2117	Q4LE79;P15924	.;DESP_HUMAN	H	2117;1518	ENSP00000369129:D2117H;ENSP00000396591:D1518H	ENSP00000369129:D2117H	D	+	1	0	DSP	7528843	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	4.555000	0.60767	2.595000	0.87683	0.655000	0.94253	GAT		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		27	109	0	0	0	0.00632	0	27	109		
NEDD9	4739	broad.mit.edu	37	6	11190647	11190647	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:11190647C>T	ENST00000379446.5	-	5	1621	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	NEDD9_ENST00000504387.1_Missense_Mutation_p.M485I|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	485					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCTCCCGCTTCATCTTGTTGT	0.522																																						uc003mzv.2		NaN																	0					0						c.(1453-1455)ATG>ATA		neural precursor cell expressed, developmentally							94.0	92.0	93.0					6																	11190647		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190647C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1455G>A	6.37:g.11190647C>T	ENSP00000368759:p.Met485Ile					NEDD9_uc010joz.2_Missense_Mutation_p.M485I|NEDD9_uc003mzw.3_Missense_Mutation_p.M339I	p.M485I	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1622	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	485					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.1455G>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768185	0.49680	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.18657	2.2;2.2	5.67	5.67	0.87782	Serine rich protein interaction (1);	0.082415	0.85682	D	0.000000	T	0.10809	0.0264	N	0.25485	0.75	0.80722	D	1	B;B;B	0.23490	0.003;0.004;0.086	B;B;B	0.30105	0.011;0.041;0.111	T	0.10497	-1.0627	10	0.30078	T	0.28	-35.8377	19.7775	0.96400	0.0:1.0:0.0:0.0	.	485;485;485	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	I	485	ENSP00000368759:M485I;ENSP00000422871:M485I	ENSP00000368759:M485I	M	-	3	0	NEDD9	11298633	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.767000	0.55288	2.680000	0.91292	0.655000	0.94253	ATG		0.522	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		NM_006403		12	38	0	0	0	0.001368	0	12	38		
SIRT5	23408	broad.mit.edu	37	6	13592071	13592071	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:13592071G>A	ENST00000606117.1	+	5	716	c.420G>A	c.(418-420)caG>caA	p.Q140Q	SIRT5_ENST00000379262.4_Silent_p.Q140Q|SIRT5_ENST00000397350.2_Silent_p.Q32Q|SIRT5_ENST00000359782.3_Silent_p.Q140Q	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCATCACCCAGAACATCGATG	0.617																																						uc003nay.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(418-420)CAG>CAA		sirtuin 5 isoform 1	Suramin(DB04786)						52.0	52.0	52.0					6																	13592071		2203	4300	6503	SO:0001819	synonymous_variant	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13592071G>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.420G>A	6.37:g.13592071G>A						SIRT5_uc003naw.2_Silent_p.Q140Q|SIRT5_uc003nax.2_Silent_p.Q32Q|SIRT5_uc011dit.1_Silent_p.Q140Q	p.Q140Q	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		5	716	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	140			NAD.|Deacetylase sirtuin-type.			Silent	SNP	ENST00000606117.1	37	c.420G>A	CCDS4526.1																																																																																				0.617	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2				12	46	0	0	0	0.001855	0	12	46		
HIST1H2BE	8344	broad.mit.edu	37	6	26184038	26184038	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:26184038G>A	ENST00000356530.3	+	1	81	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	5				A -> S (in Ref. 2; CAB02545). {ECO:0000305}.	antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CTGAGCCAGCGAAATCCGCTC	0.512																																						uc003ngt.2		NaN																	0					0						c.(13-15)GCG>GCA		histone cluster 1, H2be							76.0	75.0	75.0					6																	26184038		2203	4300	6503	SO:0001819	synonymous_variant	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184038G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.15G>A	6.37:g.26184038G>A							p.A5A	NM_003523	NP_003514	P62807	H2B1C_HUMAN			1	15	+			5	A -> S (in Ref. 2; CAB02545).				P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000356530.3	37	c.15G>A	CCDS4588.1																																																																																				0.512	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1		NM_003523		29	73	0	0	0	0.007291	0	29	73		
HIST1H2AG	8969	broad.mit.edu	37	6	27101075	27101075	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:27101075G>C	ENST00000359193.2	+	1	244	c.225G>C	c.(223-225)aaG>aaC	p.K75N	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCGACAACAAGAAGACCCGCA	0.662																																						uc003niw.2		NaN																	0					0						c.(223-225)AAG>AAC		histone cluster 1, H2ag							85.0	85.0	85.0					6																	27101075		2203	4300	6503	SO:0001583	missense	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101075G>C	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.225G>C	6.37:g.27101075G>C	ENSP00000352119:p.Lys75Asn					HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.K75N	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	259	+			75					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359193.2	37	c.225G>C	CCDS4619.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885947	0.72410	.	.	ENSG00000196787	ENST00000359193	T	0.75050	-0.9	4.08	4.08	0.47627	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.42053	D	0.000768	T	0.72898	0.3518	.	.	.	0.39604	D	0.969783	P	0.35107	0.484	P	0.46543	0.52	T	0.78593	-0.2144	9	0.72032	D	0.01	.	14.6102	0.68510	0.0:0.0:1.0:0.0	.	75	P0C0S8	H2A1_HUMAN	N	75	ENSP00000352119:K75N	ENSP00000352119:K75N	K	+	3	2	HIST1H2AG	27209054	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.653000	0.61462	2.217000	0.71921	0.655000	0.94253	AAG		0.662	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1		NM_021064		16	91	0	0	0	0.00499	0	16	91		
ZNF311	282890	broad.mit.edu	37	6	28966565	28966565	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:28966565C>G	ENST00000377179.3	-	6	873	c.361G>C	c.(361-363)Gac>Cac	p.D121H	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	121	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACACAGGGGTCTACTTCTCGC	0.448																																						uc003nlu.2		NaN																	0					0						c.(361-363)GAC>CAC		zinc finger protein 311							101.0	100.0	101.0					6																	28966565		1509	2709	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28966565C>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.361G>C	6.37:g.28966565C>G	ENSP00000366384:p.Asp121His					ZNF311_uc011dlk.1_Missense_Mutation_p.D29H|ZNF311_uc003nlv.2_Missense_Mutation_p.D29H	p.D121H	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			6	874	-			121					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.361G>C	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	9.909	1.209096	0.22205	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05382	3.45	3.73	2.85	0.33270	Krueppel-associated box (2);	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.21762	N	0.999551	B	0.22480	0.07	B	0.23018	0.043	T	0.47886	-0.9082	9	0.87932	D	0	-1.5941	9.3862	0.38345	0.0:0.8884:0.0:0.1116	.	121	Q5JNZ3	ZN311_HUMAN	H	121;29	ENSP00000366384:D121H	ENSP00000366384:D121H	D	-	1	0	ZNF311	29074544	0.004000	0.15560	0.290000	0.24890	0.575000	0.36095	0.747000	0.26290	0.843000	0.35070	0.591000	0.81541	GAC		0.448	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3		XM_212581		10	68	0	0	0	0.000978	0	10	68		
OR11A1	26531	broad.mit.edu	37	6	29394644	29394644	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29394644A>G	ENST00000377149.1	-	5	1247	c.775T>C	c.(775-777)Ttt>Ctt	p.F259L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.F259L|OR11A1_ENST00000377147.2_Missense_Mutation_p.F259L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCAACATAAAAGATCATGAGC	0.522																																						uc003nmg.2		NaN																	0				ovary(1)	1						c.(775-777)TTT>CTT		olfactory receptor, family 11, subfamily A,							139.0	128.0	132.0					6																	29394644		1511	2708	4219	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394644A>G		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.775T>C	6.37:g.29394644A>G	ENSP00000366354:p.Phe259Leu						p.F259L	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	866	-			259			Helical; Name=6; (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.775T>C	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	A	3.275	-0.148221	0.06627	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00031	8.89;8.89;8.89	3.53	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	2.546450	0.02191	N	0.061373	T	0.00012	0.0000	N	0.00280	-1.71	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.45353	T	0.12	-7.2746	3.5215	0.07744	0.4651:0.1787:0.0:0.3562	.	259	Q9GZK7	O11A1_HUMAN	L	259	ENSP00000366353:F259L;ENSP00000366354:F259L;ENSP00000366352:F259L	ENSP00000366352:F259L	F	-	1	0	OR11A1	29502623	0.000000	0.05858	0.025000	0.17156	0.028000	0.11728	-0.324000	0.07986	1.458000	0.47871	0.338000	0.21704	TTT		0.522	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1				15	89	0	0	0	0.003163	0	15	89		
HLA-F	3134	broad.mit.edu	37	6	29694183	29694183	+	Nonstop_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:29694183G>T	ENST00000376861.1	+	8	1424	c.1040G>T	c.(1039-1041)tGa>tTa	p.*347L	HLA-F_ENST00000334668.4_Nonstop_Mutation_p.*347L|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Intron|HLA-F_ENST00000434407.2_Nonstop_Mutation_p.*255L|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTATAGTGTGAGACAGCTTC	0.358																																						uc010jrl.2		NaN																	0					0						c.(1039-1041)TGA>TTA		major histocompatibility complex, class I, F							79.0	92.0	88.0					6																	29694183		1467	2698	4165	SO:0001578	stop_lost	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694183G>T	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.1040G>T	6.37:g.29694183G>T	ENSP00000366057:p.*347Leuext*8					HLA-F_uc003nnm.3_Nonstop_Mutation_p.*255L|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron	p.*347L	NM_018950	NP_061823	P30511	HLAF_HUMAN			7	1164	+			347					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Nonstop_Mutation	SNP	ENST00000376861.1	37	c.1040G>T	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	0.541	-0.853786	0.02630	.	.	ENSG00000204642	ENST00000376861;ENST00000334668;ENST00000434407	.	.	.	1.82	0.675	0.17952	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3395	0.15976	0.0:0.3663:0.6336:0.0	.	.	.	.	L	347;347;255	.	.	X	+	2	2	HLA-F	29802162	0.267000	0.24122	0.116000	0.21606	0.027000	0.11550	-0.071000	0.11505	0.979000	0.38497	0.436000	0.28706	TGA		0.358	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1		NM_018950		9	47	1	0	9.70103e-10	0.008291	1.19807e-09	9	47		
ABCF1	23	broad.mit.edu	37	6	30552094	30552094	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:30552094G>A	ENST00000326195.8	+	13	1340	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E372K|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	410	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CACAGCTGCTGAGAGGCTAGA	0.597																																						uc003nql.2		NaN																	0				ovary(2)	2						c.(1228-1230)GAG>AAG		ATP-binding cassette, sub-family F, member 1							95.0	80.0	85.0					6																	30552094		1510	2708	4218	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30552094G>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1228G>A	6.37:g.30552094G>A	ENSP00000313603:p.Glu410Lys					ABCF1_uc003nqk.2_Missense_Mutation_p.E411K|ABCF1_uc003nqm.2_Missense_Mutation_p.E372K|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	p.E410K	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			13	1323	+			410			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1228G>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337462	0.60963	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.91686	-2.69;-2.89	4.97	3.06	0.35304	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.112807	0.64402	D	0.000012	D	0.89068	0.6610	M	0.67397	2.05	0.80722	D	1	P;P;P	0.42123	0.771;0.592;0.592	P;B;B	0.46885	0.53;0.241;0.241	D	0.88409	0.3020	10	0.46703	T	0.11	-16.0898	10.7827	0.46388	0.0:0.1416:0.7117:0.1467	.	372;410;410	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	K	410;372;389	ENSP00000313603:E410K;ENSP00000365728:E372K	ENSP00000313603:E410K	E	+	1	0	ABCF1	30660073	1.000000	0.71417	0.933000	0.37362	0.902000	0.53008	4.941000	0.63540	1.287000	0.44583	0.455000	0.32223	GAG		0.597	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3				19	65	0	0	0	0.001523	0	19	65		
GPANK1	7918	broad.mit.edu	37	6	31631705	31631705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31631705G>A	ENST00000375906.1	-	3	1235	c.551C>T	c.(550-552)gCt>gTt	p.A184V	GPANK1_ENST00000375895.2_Missense_Mutation_p.A184V|GPANK1_ENST00000375893.2_Missense_Mutation_p.A184V|GPANK1_ENST00000375900.4_Missense_Mutation_p.A184V|CSNK2B_ENST00000375866.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.A184V|CSNK2B_ENST00000375882.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375865.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	184							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGCTTCTTCAGCGAGCTGAGC	0.642																																						uc003nvn.2		NaN																	0					0						c.(550-552)GCT>GTT		HLA-B associated transcript 4							54.0	56.0	56.0					6																	31631705		2203	4300	6503	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31631705G>A		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.551C>T	6.37:g.31631705G>A	ENSP00000365071:p.Ala184Val					BAT4_uc003nvo.3_Missense_Mutation_p.A184V|BAT4_uc003nvp.3_Missense_Mutation_p.A184V|BAT4_uc003nvq.2_Missense_Mutation_p.A184V|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	p.A184V	NM_033177	NP_149417	O95872	GPAN1_HUMAN			2	1196	-			184					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.551C>T	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617009	0.96649	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.25	5.25	0.73442	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89568	0.3811	10	0.87932	D	0	-9.2757	16.3393	0.83076	0.0:0.0:1.0:0.0	.	184	O95872	GPAN1_HUMAN	V	184	ENSP00000365071:A184V;ENSP00000365060:A184V;ENSP00000365057:A184V;ENSP00000365059:A184V;ENSP00000365065:A184V	ENSP00000365057:A184V	A	-	2	0	GPANK1	31739684	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	6.108000	0.71522	2.447000	0.82792	0.561000	0.74099	GCT		0.642	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2		NM_033177		19	40	0	0	0	0.007413	0	19	40		
LY6G6D	58530	broad.mit.edu	37	6	31685395	31685395	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31685395C>G	ENST00000375825.3	+	3	216	c.216C>G	c.(214-216)gtC>gtG	p.V72V	MEGT1_ENST00000503322.1_Silent_p.V321V|LY6G6F_ENST00000556581.1_Silent_p.V321V	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D	72	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CAGCCTGCGTCGCAGCCCATC	0.577																																						uc003nwb.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(961-963)GTC>GTG		G6f protein precursor							203.0	203.0	203.0					6																	31685395		2203	4300	6503	SO:0001819	synonymous_variant	259215					integral to membrane|plasma membrane		g.chr6:31685395C>G		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370	ENST00000375825.3:c.216C>G	6.37:g.31685395C>G						LY6G6D_uc003nwf.1_Silent_p.V72V|LY6G6D_uc003nwg.1_Silent_p.V51V	p.V321V	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			6	963	+			Error:Variant_position_missing_in_Q5SQ64_after_alignment					A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Silent	SNP	ENST00000375825.3	37	c.963C>G	CCDS34404.1	.	.	.	.	.	.	.	.	.	.	c	9.525	1.109356	0.20714	.	.	ENSG00000244355	ENST00000375824	T	0.37915	1.17	5.4	2.6	0.31112	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07385	-1.0775	6	0.14252	T	0.57	.	6.0415	0.19736	0.1764:0.1576:0.666:0.0	.	.	.	.	G	113	ENSP00000364984:R113G	ENSP00000364984:R113G	R	+	1	0	LY6G6D	31793374	0.992000	0.36948	0.709000	0.30452	0.987000	0.75469	0.826000	0.27407	0.644000	0.30656	-0.158000	0.13435	CGC		0.577	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2				74	195	0	0	0	0.00361	0	74	195		
MSH5	4439	broad.mit.edu	37	6	31711763	31711763	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:31711763C>G	ENST00000375755.3	+	6	784	c.498C>G	c.(496-498)ctC>ctG	p.L166L	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Silent_p.L166L|MSH5-SAPCD1_ENST00000493662.2_Silent_p.L166L|MSH5_ENST00000534153.4_Silent_p.L166L|MSH5_ENST00000431848.2_5'Flank|MSH5_ENST00000375740.3_Silent_p.L166L|MSH5_ENST00000375750.3_Silent_p.L166L|MSH5_ENST00000375742.3_Silent_p.L166L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	166					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						AGAAAATCCTCTTCCTCTCTT	0.517								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	0				ovary(2)|breast(1)	3						c.(496-498)CTC>CTG	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							239.0	263.0	255.0					6																	31711763		1511	2709	4220	SO:0001819	synonymous_variant	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31711763C>G	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.498C>G	6.37:g.31711763C>G						MSH5_uc003nwt.1_Silent_p.L166L|MSH5_uc003nwu.1_Silent_p.L166L|MSH5_uc003nww.1_Silent_p.L166L|MSH5_uc003nwx.1_Silent_p.L166L|MSH5_uc011dof.1_5'Flank	p.L166L	NM_172166	NP_751898	O43196	MSH5_HUMAN			6	577	+			166					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.498C>G	CCDS4720.1																																																																																				0.517	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				37	228	0	0	0	0.005524	0	37	228		
TNXB	7148	broad.mit.edu	37	6	32026081	32026081	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:32026081C>T	ENST00000375244.3	-	22	7780	c.7579G>A	c.(7579-7581)Gag>Aag	p.E2527K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2527K			P22105	TENX_HUMAN	tenascin XB	2587	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGA	0.627																																						uc003nzl.2		NaN																	0					0						c.(7579-7581)GAG>AAG		tenascin XB isoform 1 precursor							34.0	39.0	37.0					6																	32026081		1209	2530	3739	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32026081C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7579G>A	6.37:g.32026081C>T	ENSP00000364393:p.Glu2527Lys						p.E2527K	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7781	-			2587			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7579G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.213391	0.79352	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04551	3.6;3.6	4.5	4.5	0.54988	.	0.000000	0.41605	D	0.000852	T	0.03695	0.0105	M	0.85630	2.765	0.30603	N	0.760303	P	0.40476	0.718	B	0.38500	0.275	T	0.38436	-0.9661	10	0.10111	T	0.7	.	14.295	0.66304	0.0:1.0:0.0:0.0	.	2527	P22105-3	.	K	2527	ENSP00000364393:E2527K;ENSP00000364396:E2527K	ENSP00000364393:E2527K	E	-	1	0	TNXB	32134059	0.326000	0.24669	0.979000	0.43373	0.783000	0.44284	1.982000	0.40638	2.330000	0.79161	0.650000	0.86243	GAG		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		8	32	0	0	0	0.00308	0	8	32		
PHF1	5252	broad.mit.edu	37	6	33380560	33380560	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33380560G>A	ENST00000374516.3	+	4	598	c.327G>A	c.(325-327)aaG>aaA	p.K109K	PHF1_ENST00000374512.3_Silent_p.K109K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	109					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCTGTGAGAAGTGTCGCCATG	0.577																																						uc003oeh.2		NaN																	0					0						c.(325-327)AAG>AAA		PHD finger protein 1 isoform b							142.0	127.0	132.0					6																	33380560		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33380560G>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.327G>A	6.37:g.33380560G>A						PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.K109K|PHF1_uc010jux.2_Intron	p.K109K	NM_024165	NP_077084	O43189	PHF1_HUMAN			4	563	+		Ovarian(999;0.0443)	109			PHD-type 1.		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.327G>A	CCDS4777.1																																																																																				0.577	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3				19	50	0	0	0	0.008871	0	19	50		
PHF1	5252	broad.mit.edu	37	6	33383647	33383647	+	Silent	SNP	G	G	C	rs138734488		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383647G>C	ENST00000374516.3	+	15	1747	c.1476G>C	c.(1474-1476)tcG>tcC	p.S492S	PHF1_ENST00000374512.3_Missense_Mutation_p.R457P|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	492					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCCCACTCGATGACTGCCT	0.542																																						uc003oeh.2		NaN																	0					0						c.(1474-1476)TCG>TCC		PHD finger protein 1 isoform b							138.0	121.0	127.0					6																	33383647		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383647G>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1476G>C	6.37:g.33383647G>C						PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R457P|PHF1_uc010jux.2_Silent_p.S292S	p.S492S	NM_024165	NP_077084	O43189	PHF1_HUMAN			15	1712	+		Ovarian(999;0.0443)	492					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1476G>C	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015234	0.35511	.	.	ENSG00000112511	ENST00000374512	T	0.26957	1.7	4.36	0.527	0.17084	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.80722	D	1	P	0.34955	0.477	B	0.26770	0.073	T	0.15150	-1.0447	8	0.87932	D	0	-3.6673	6.0611	0.19839	0.4631:0.0:0.5369:0.0	.	457	O43189-2	.	P	457	ENSP00000363636:R457P	ENSP00000363636:R457P	R	+	2	0	PHF1	33491625	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.770000	0.26618	0.214000	0.20742	0.655000	0.94253	CGA		0.542	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3				32	105	0	0	0	0.003755	0	32	105		
PHF1	5252	broad.mit.edu	37	6	33383743	33383743	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383743G>A	ENST00000374516.3	+	15	1843	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	524					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGTCTCCTGGGACTGGGGGAG	0.612																																						uc003oeh.2		NaN																	0					0						c.(1570-1572)GGG>GGA		PHD finger protein 1 isoform b							85.0	84.0	85.0					6																	33383743		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383743G>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1572G>A	6.37:g.33383743G>A						PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Silent_p.G324G	p.G524G	NM_024165	NP_077084	O43189	PHF1_HUMAN			15	1808	+		Ovarian(999;0.0443)	524					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1572G>A	CCDS4777.1																																																																																				0.612	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3				36	101	0	0	0	0.003755	0	36	101		
PHF1	5252	broad.mit.edu	37	6	33383754	33383754	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:33383754G>C	ENST00000374516.3	+	15	1854	c.1583G>C	c.(1582-1584)gGa>gCa	p.G528A	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	528					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACTGGGGGAGGAGTCCGAGGT	0.617																																						uc003oeh.2		NaN																	0					0						c.(1582-1584)GGA>GCA		PHD finger protein 1 isoform b							87.0	86.0	86.0					6																	33383754		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383754G>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1583G>C	6.37:g.33383754G>C	ENSP00000363640:p.Gly528Ala					PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_3'UTR|PHF1_uc010jux.2_Missense_Mutation_p.G328A	p.G528A	NM_024165	NP_077084	O43189	PHF1_HUMAN			15	1819	+		Ovarian(999;0.0443)	528					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1583G>C	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	2.775	-0.254759	0.05829	.	.	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.21734	1.99	4.54	4.54	0.55810	.	0.331224	0.26109	N	0.026298	T	0.14313	0.0346	N	0.22421	0.69	0.31906	N	0.615287	P	0.49961	0.93	P	0.57009	0.811	T	0.02805	-1.1108	9	.	.	.	-4.6559	12.6788	0.56910	0.0:0.0:1.0:0.0	.	528	O43189	PHF1_HUMAN	A	528;142	ENSP00000363640:G528A	.	G	+	2	0	PHF1	33491732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.113000	0.50376	2.365000	0.80145	0.655000	0.94253	GGA		0.617	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3				22	123	0	0	0	0.00278	0	22	123		
USP49	25862	broad.mit.edu	37	6	41774070	41774070	+	Missense_Mutation	SNP	C	C	T	rs548556992		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:41774070C>T	ENST00000394253.3	-	3	981	c.652G>A	c.(652-654)Gac>Aac	p.D218N	USP49_ENST00000373009.3_Missense_Mutation_p.D218N|USP49_ENST00000373010.1_Missense_Mutation_p.D218N|USP49_ENST00000297229.2_Missense_Mutation_p.D218N|USP49_ENST00000373006.1_Missense_Mutation_p.D218N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D218N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gggcccgcgtcgcggggcgTG	0.771													C|||	1	0.000199681	0.0	0.0	5008	,	,		9830	0.0		0.0	False		,,,				2504	0.001					uc003ori.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(652-654)GAC>AAC		ubiquitin thioesterase 49							5.0	6.0	6.0					6																	41774070		1472	3174	4646	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774070C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.652G>A	6.37:g.41774070C>T	ENSP00000377797:p.Asp218Asn						p.D218N	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	874	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		218					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.652G>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.289900	0.00248	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.06608	3.77;3.28;3.77;3.55;3.55	1.23	-0.876	0.10624	.	1.937020	0.03588	U	0.231298	T	0.01092	0.0036	N	0.22421	0.69	0.09310	N	1	B	0.23442	0.085	B	0.25987	0.065	T	0.45848	-0.9233	10	0.14656	T	0.56	0.0087	2.6755	0.05080	0.0:0.4697:0.3072:0.2231	.	218	Q70CQ1-2	.	N	218	ENSP00000377797:D218N;ENSP00000362101:D218N;ENSP00000362100:D218N;ENSP00000362097:D218N;ENSP00000297229:D218N	ENSP00000297229:D218N	D	-	1	0	USP49	41882048	0.997000	0.39634	0.001000	0.08648	0.000000	0.00434	2.367000	0.44213	-0.361000	0.08125	-0.892000	0.02923	GAC		0.771	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		NM_018561		8	12	0	0	0	0.00308	0	8	12		
UBR2	23304	broad.mit.edu	37	6	42655960	42655960	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:42655960G>A	ENST00000372899.1	+	45	5118	c.4860G>A	c.(4858-4860)ccG>ccA	p.P1620P	UBR2_ENST00000372901.1_Silent_p.P1620P|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1620					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGAGGTGCCCGAAATCAGGTG	0.483																																						uc011dur.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(4858-4860)CCG>CCA		ubiquitin protein ligase E3 component n-recognin							133.0	129.0	131.0					6																	42655960		2203	4300	6503	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42655960G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4860G>A	6.37:g.42655960G>A						UBR2_uc011dus.1_Silent_p.P1265P|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Silent_p.P208P|UBR2_uc011duu.1_Silent_p.P12P	p.P1620P	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		45	4860	+	Colorectal(47;0.196)		1620					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.4860G>A	CCDS4870.1																																																																																				0.483	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		NM_015255		17	119	0	0	0	0.004007	0	17	119		
CUL9	23113	broad.mit.edu	37	6	43172787	43172787	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:43172787C>T	ENST00000252050.4	+	23	4650	c.4566C>T	c.(4564-4566)ttC>ttT	p.F1522F	CUL9_ENST00000354495.3_Silent_p.F1412F|CUL9_ENST00000372647.2_Silent_p.F1522F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1522					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGCAGCCTTCATGCTGGCTC	0.602																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(4564-4566)TTC>TTT		p53-associated parkin-like cytoplasmic protein							62.0	65.0	64.0					6																	43172787		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172787C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4566C>T	6.37:g.43172787C>T						CUL9_uc003oul.2_Silent_p.F1522F|CUL9_uc010jyk.2_Silent_p.F674F	p.F1522F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			23	4641	+			1522					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.4566C>T	CCDS4890.1																																																																																				0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		26	59	0	0	0	0.004656	0	26	59		
CAPN11	11131	broad.mit.edu	37	6	44148506	44148506	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44148506G>A	ENST00000398776.1	+	17	1806	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	CAPN11_ENST00000542245.1_Missense_Mutation_p.E590K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	590	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGGTGTATGAGCTCCAGAG	0.602																																						uc003owt.1		NaN																	0				ovary(1)|breast(1)	2						c.(1768-1770)GAG>AAG		calpain 11							95.0	106.0	102.0					6																	44148506		2043	4182	6225	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148506G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1768G>A	6.37:g.44148506G>A	ENSP00000381758:p.Glu590Lys					CAPN11_uc011dvn.1_Missense_Mutation_p.E244K	p.E590K	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		17	1806	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		590			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1768G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	g	13.57	2.277083	0.40294	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.51817	0.69;0.69	4.91	3.11	0.35812	EF-hand-like domain (1);	0.977741	0.08352	N	0.959068	T	0.34658	0.0905	M	0.84219	2.685	0.09310	N	1	P;B	0.35793	0.521;0.436	B;B	0.38378	0.272;0.024	T	0.48210	-0.9055	10	0.72032	D	0.01	.	6.0092	0.19565	0.1658:0.1577:0.6765:0.0	.	244;590	B4DT90;Q9UMQ6	.;CAN11_HUMAN	K	590	ENSP00000381758:E590K;ENSP00000441078:E590K	ENSP00000381758:E590K	E	+	1	0	CAPN11	44256484	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	3.180000	0.50895	0.659000	0.30945	-0.739000	0.03532	GAG		0.602	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3				12	46	0	0	0	0.00245	0	12	46		
HSP90AB1	3326	broad.mit.edu	37	6	44219877	44219877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:44219877C>G	ENST00000371554.1	+	10	1818	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.S535*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.S535*|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	535					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCTGGTCTCAGTTACCAAG	0.517																																						uc003oxa.1		NaN																	0				lung(3)|breast(1)	4						c.(1603-1605)TCA>TGA		heat shock 90kDa protein 1, beta							56.0	52.0	53.0					6																	44219877		2203	4300	6503	SO:0001587	stop_gained	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44219877C>G	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1604C>G	6.37:g.44219877C>G	ENSP00000360609:p.Ser535*					HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.S525*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.S535*|HSP90AB1_uc011dvs.1_Nonsense_Mutation_p.S355*|HSP90AB1_uc003oxc.1_Nonsense_Mutation_p.S173*	p.S535*	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1688	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		535					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Nonsense_Mutation	SNP	ENST00000371554.1	37	c.1604C>G	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	40	7.961555	0.98583	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.77	4.77	0.60923	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.4153	17.3699	0.87373	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000325875:S535X	S	+	2	0	HSP90AB1	44327855	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	7.796000	0.85898	2.215000	0.71742	0.650000	0.86243	TCA		0.517	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355		7	38	0	0	0	0.001984	0	7	38		
TDRD6	221400	broad.mit.edu	37	6	46660346	46660346	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660346G>C	ENST00000316081.6	+	1	4481	c.4481G>C	c.(4480-4482)aGt>aCt	p.S1494T	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1494T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1494					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAATTAAAAGTGCCAGTTCA	0.348																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4480-4482)AGT>ACT		tudor domain containing 6							59.0	61.0	60.0					6																	46660346		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660346G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4481G>C	6.37:g.46660346G>C	ENSP00000346065:p.Ser1494Thr					TDRD6_uc010jze.2_Missense_Mutation_p.S1488T	p.S1494T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4481	+			1494					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4481G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228856	0.01518	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14144	2.53;2.53	5.77	2.05	0.26809	.	0.749679	0.12936	N	0.426969	T	0.02533	0.0077	L	0.29908	0.895	0.09310	N	1	B;B	0.20988	0.05;0.008	B;B	0.25291	0.059;0.016	T	0.47598	-0.9105	10	0.16896	T	0.51	-14.7258	5.2161	0.15344	0.378:0.0:0.489:0.133	.	1494;1494	F5H5M3;O60522	.;TDRD6_HUMAN	T	1494	ENSP00000443299:S1494T;ENSP00000346065:S1494T	ENSP00000346065:S1494T	S	+	2	0	TDRD6	46768305	0.004000	0.15560	0.005000	0.12908	0.007000	0.05969	0.848000	0.27710	0.476000	0.27440	-0.136000	0.14681	AGT		0.348	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		10	68	0	0	0	0.008291	0	10	68		
TDRD6	221400	broad.mit.edu	37	6	46660716	46660716	+	Silent	SNP	C	C	G	rs377186640		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660716C>G	ENST00000316081.6	+	1	4851	c.4851C>G	c.(4849-4851)ctC>ctG	p.L1617L	TDRD6_ENST00000544460.1_Silent_p.L1617L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1617	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAAAAGCACTCTGGGCCATTC	0.423																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4849-4851)CTC>CTG		tudor domain containing 6		C	,	0,4406		0,0,2203	117.0	123.0	121.0		4851,4851	4.1	0.9	6		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TDRD6	NM_001010870.2,NM_001168359.1	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	1617/2097,1617/2067	46660716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660716C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4851C>G	6.37:g.46660716C>G						TDRD6_uc010jze.2_Silent_p.L1611L	p.L1617L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4851	+			1617			Tudor 7.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.4851C>G	CCDS34470.1																																																																																				0.423	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		17	81	0	0	0	0.001523	0	17	81		
TDRD6	221400	broad.mit.edu	37	6	46660747	46660747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46660747C>G	ENST00000316081.6	+	1	4882	c.4882C>G	c.(4882-4884)Ccc>Gcc	p.P1628A	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1628A	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1628					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTGTCGGTTCCCATGCAAGC	0.413																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4882-4884)CCC>GCC		tudor domain containing 6							103.0	107.0	106.0					6																	46660747		2202	4300	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660747C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4882C>G	6.37:g.46660747C>G	ENSP00000346065:p.Pro1628Ala					TDRD6_uc010jze.2_Missense_Mutation_p.P1622A	p.P1628A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4882	+			1628					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4882C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488466	0.64074	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.20738	2.05;2.05	5.87	3.92	0.45320	Maternal tudor protein (1);	0.490278	0.20779	N	0.085824	T	0.36799	0.0980	M	0.83692	2.655	0.32378	N	0.554977	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	T	0.41251	-0.9519	10	0.62326	D	0.03	-10.3207	12.7128	0.57100	0.1242:0.8091:0.0:0.0667	.	1628;1628	F5H5M3;O60522	.;TDRD6_HUMAN	A	1628	ENSP00000443299:P1628A;ENSP00000346065:P1628A	ENSP00000346065:P1628A	P	+	1	0	TDRD6	46768706	0.996000	0.38824	0.982000	0.44146	0.996000	0.88848	3.446000	0.52928	1.487000	0.48415	0.655000	0.94253	CCC		0.413	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		22	67	0	0	0	0.001882	0	22	67		
TDRD6	221400	broad.mit.edu	37	6	46661399	46661399	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46661399C>G	ENST00000316081.6	+	1	5534	c.5534C>G	c.(5533-5535)tCa>tGa	p.S1845*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.S1845*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1845					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GATGATGAATCAAAAGAATTC	0.418																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(5533-5535)TCA>TGA		tudor domain containing 6							55.0	59.0	58.0					6																	46661399		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661399C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5534C>G	6.37:g.46661399C>G	ENSP00000346065:p.Ser1845*					TDRD6_uc010jze.2_Nonsense_Mutation_p.S1839*	p.S1845*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5534	+			1845					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.5534C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	45	11.701161	0.99592	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.57	3.76	0.43208	.	0.667293	0.14399	N	0.322003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.4289	6.5203	0.22271	0.0:0.6708:0.1565:0.1727	.	.	.	.	X	1845	.	ENSP00000346065:S1845X	S	+	2	0	TDRD6	46769358	0.014000	0.17966	0.616000	0.29078	0.939000	0.58152	0.684000	0.25364	0.677000	0.31305	0.563000	0.77884	TCA		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		11	71	0	0	0	0.000978	0	11	71		
TDRD6	221400	broad.mit.edu	37	6	46665740	46665740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46665740G>C	ENST00000316081.6	+	3	6177	c.6177G>C	c.(6175-6177)ttG>ttC	p.L2059F	TDRD6_ENST00000544460.1_Intron	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	2059	Tudor 8. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTAGGTTTTGAACCTTTCAA	0.318																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(6175-6177)TTG>TTC		tudor domain containing 6							87.0	97.0	93.0					6																	46665740		2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46665740G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.6177G>C	6.37:g.46665740G>C	ENSP00000346065:p.Leu2059Phe					TDRD6_uc010jze.2_Intron	p.L2059F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		3	6177	+			2059			Tudor 8.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.6177G>C	CCDS34470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.798557|2.798557	0.50208|0.50208	.|.	.|.	ENSG00000180113|ENSG00000180113	ENST00000450697|ENST00000316081;ENST00000371334	.|T	.|0.30182	.|1.54	6.06|6.06	2.26|2.26	0.28386|0.28386	.|Tudor domain (1);	.|0.000000	.|0.48286	.|D	.|0.000185	T|T	0.35998|0.35998	0.0951|0.0951	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.22103|0.22103	-1.0226|-1.0226	5|10	.|0.87932	.|D	.|0	-14.6882|-14.6882	8.8961|8.8961	0.35465|0.35465	0.2987:0.0:0.7013:0.0|0.2987:0.0:0.7013:0.0	.|.	.|2059	.|O60522	.|TDRD6_HUMAN	Q|F	112|2059;120	.|ENSP00000346065:L2059F	.|ENSP00000346065:L2059F	E|L	+|+	1|3	0|2	TDRD6|TDRD6	46773699|46773699	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.629000|0.629000	0.37895|0.37895	1.539000|1.539000	0.36104|0.36104	0.125000|0.125000	0.18397|0.18397	-0.136000|-0.136000	0.14681|0.14681	GAA|TTG		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		28	135	0	0	0	0.002096	0	28	135		
GPR110	266977	broad.mit.edu	37	6	46996735	46996735	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:46996735G>A	ENST00000371253.2	-	2	278	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GPR110_ENST00000371243.2_Silent_p.F21F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	21					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCACCCCCAGGAAGCCACCGT	0.517																																						uc003oyt.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(61-63)TTC>TTT		G-protein coupled receptor 110 isoform 1							134.0	106.0	116.0					6																	46996735		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46996735G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.63C>T	6.37:g.46996735G>A						GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Silent_p.F21F	p.F21F	NM_153840	NP_722582	Q5T601	GP110_HUMAN			2	262	-			21			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.63C>T	CCDS34471.1																																																																																				0.517	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840		9	51	0	0	0	0.000978	0	9	51		
PGK2	5232	broad.mit.edu	37	6	49754286	49754286	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:49754286C>T	ENST00000304801.3	-	1	767	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	205					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAAAGGGTCTCACTGGGTTTT	0.433																																						uc003ozu.2		NaN																	0				ovary(1)	1						c.(613-615)GTG>GTA		phosphoglycerate kinase 2							109.0	108.0	108.0					6																	49754286		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754286C>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.615G>A	6.37:g.49754286C>T							p.V205V	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	722	-	Lung NSC(77;0.0402)		205					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.615G>A	CCDS4930.1																																																																																				0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1				19	80	0	0	0	0.006122	0	19	80		
FAM83B	222584	broad.mit.edu	37	6	54805774	54805774	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:54805774G>C	ENST00000306858.7	+	5	2121	c.2005G>C	c.(2005-2007)Gac>Cac	p.D669H	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	669										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCCGTTATTTGACAACTCAAA	0.343																																						uc003pck.2		NaN																	0				ovary(6)	6						c.(2005-2007)GAC>CAC		hypothetical protein LOC222584							62.0	67.0	65.0					6																	54805774		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805774G>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2005G>C	6.37:g.54805774G>C	ENSP00000304078:p.Asp669His						p.D669H	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2121	+	Lung NSC(77;0.0178)|Renal(3;0.122)		669					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2005G>C	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233497	0.58886	.	.	ENSG00000168143	ENST00000306858	T	0.49720	0.77	5.55	5.55	0.83447	.	0.455087	0.24007	N	0.042415	T	0.52645	0.1747	L	0.57536	1.79	0.46203	D	0.998925	D	0.65815	0.995	P	0.55112	0.769	T	0.51036	-0.8756	10	0.51188	T	0.08	-22.7695	18.6371	0.91383	0.0:0.0:1.0:0.0	.	669	Q5T0W9	FA83B_HUMAN	H	669	ENSP00000304078:D669H	ENSP00000304078:D669H	D	+	1	0	FAM83B	54913733	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	6.313000	0.72844	2.773000	0.95371	0.655000	0.94253	GAC		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1		XM_294139		17	65	0	0	0	0.007413	0	17	65		
KCNQ5	56479	broad.mit.edu	37	6	73751754	73751754	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73751754G>A	ENST00000370398.1	+	3	694	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KCNQ5_ENST00000402622.2_Silent_p.L195L|KCNQ5_ENST00000355635.3_Silent_p.L195L|KCNQ5_ENST00000355194.4_Silent_p.L195L|KCNQ5_ENST00000342056.2_Silent_p.L195L|KCNQ5_ENST00000370392.1_Silent_p.L195L|KCNQ5_ENST00000403813.2_Silent_p.L195L|KCNQ5_ENST00000414165.2_Silent_p.L195L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	195					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AAGGAAGACTGAGGTTTGCTC	0.438																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(583-585)CTG>CTA		potassium voltage-gated channel, KQT-like							308.0	276.0	287.0					6																	73751754		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73751754G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.585G>A	6.37:g.73751754G>A						KCNQ5_uc003pgj.3_Silent_p.L195L|KCNQ5_uc011dyh.1_Silent_p.L195L|KCNQ5_uc011dyi.1_Silent_p.L195L|KCNQ5_uc010kat.2_Silent_p.L195L|KCNQ5_uc011dyj.1_Silent_p.L195L|KCNQ5_uc011dyk.1_Intron	p.L195L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	932	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	195					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.585G>A	CCDS4976.1																																																																																				0.438	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		27	122	0	0	0	0.007291	0	27	122		
KCNQ5	56479	broad.mit.edu	37	6	73904609	73904609	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:73904609C>G	ENST00000370398.1	+	14	2380	c.2271C>G	c.(2269-2271)atC>atG	p.I757M	KCNQ5_ENST00000402622.2_Missense_Mutation_p.I767M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.I758M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.I757M|KCNQ5_ENST00000342056.2_Missense_Mutation_p.I776M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.I748M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.I647M	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	757					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TCCCAGCCATCAAGCATCTGC	0.537																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2269-2271)ATC>ATG		potassium voltage-gated channel, KQT-like							86.0	82.0	84.0					6																	73904609		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904609C>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2271C>G	6.37:g.73904609C>G	ENSP00000359425:p.Ile757Met					KCNQ5_uc011dyh.1_Missense_Mutation_p.I776M|KCNQ5_uc011dyi.1_Missense_Mutation_p.I767M|KCNQ5_uc010kat.2_Missense_Mutation_p.I748M|KCNQ5_uc011dyj.1_Missense_Mutation_p.I647M|KCNQ5_uc011dyk.1_Missense_Mutation_p.I507M	p.I757M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2618	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	757					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2271C>G	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773741	0.16051	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99329	-5.56;-5.56;-5.56;-5.56;-5.57;-5.6;-5.75	5.32	2.53	0.30540	.	0.565056	0.17259	N	0.180843	D	0.92136	0.7507	N	0.16478	0.41	0.20307	N	0.999917	B;B;B;B;B	0.18968	0.015;0.007;0.007;0.032;0.001	B;B;B;B;B	0.18871	0.023;0.009;0.006;0.005;0.001	D	0.88789	0.3276	10	0.36615	T	0.2	.	1.9795	0.03423	0.2167:0.3889:0.2456:0.1488	.	647;767;776;748;757	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	M	776;776;757;757;767;758;748;647	ENSP00000345055:I776M;ENSP00000347326:I757M;ENSP00000359425:I757M;ENSP00000385501:I767M;ENSP00000347853:I758M;ENSP00000384453:I748M;ENSP00000409861:I647M	ENSP00000345055:I776M	I	+	3	3	KCNQ5	73961330	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	0.583000	0.23849	0.621000	0.30232	0.561000	0.74099	ATC		0.537	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		17	34	0	0	0	0.007413	0	17	34		
MB21D1	115004	broad.mit.edu	37	6	74150012	74150012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74150012G>T	ENST00000370315.3	-	3	1128	c.1034C>A	c.(1033-1035)tCa>tAa	p.S345*	MB21D1_ENST00000370318.1_Nonsense_Mutation_p.S345*	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	345					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						AACTTTTGCTGAAAGCCAGTT	0.393																																						uc003pgx.1		NaN																	0					0						c.(1033-1035)TCA>TAA		hypothetical protein LOC115004							112.0	108.0	109.0					6																	74150012		2203	4300	6503	SO:0001587	stop_gained	115004							g.chr6:74150012G>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1034C>A	6.37:g.74150012G>T	ENSP00000359339:p.Ser345*						p.S345*	NM_138441	NP_612450	Q8N884	M21D1_HUMAN			3	1173	-			345					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Nonsense_Mutation	SNP	ENST00000370315.3	37	c.1034C>A	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625575	0.46840	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	.	.	.	5.28	3.47	0.39725	.	0.146450	0.44285	D	0.000463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-8.6677	13.7445	0.62868	0.0:0.6921:0.3079:0.0	.	.	.	.	X	345	.	ENSP00000296913:S345X	S	-	2	0	MB21D1	74206733	0.932000	0.31603	0.088000	0.20740	0.006000	0.05464	2.887000	0.48586	0.596000	0.29794	-0.519000	0.04390	TCA		0.393	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5		NM_138441		30	76	1	0	1.2476e-16	0.00632	1.57315e-16	30	76		
CD109	135228	broad.mit.edu	37	6	74502507	74502507	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:74502507C>T	ENST00000287097.5	+	23	2972	c.2860C>T	c.(2860-2862)Ctt>Ttt	p.L954F	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.L877F|CD109_ENST00000437994.2_Missense_Mutation_p.L954F			Q6YHK3	CD109_HUMAN	CD109 molecule	954					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAAAGCTCTTTCATTTAT	0.303																																						uc003php.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(2860-2862)CTT>TTT		CD109 antigen isoform 1 precursor							45.0	48.0	47.0					6																	74502507		2203	4298	6501	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74502507C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2860C>T	6.37:g.74502507C>T	ENSP00000287097:p.Leu954Phe					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.L954F|CD109_uc010kba.2_Missense_Mutation_p.L877F	p.L954F	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			23	3285	+			954					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.2860C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126406	0.56721	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.39056	1.1;1.1;1.1	5.87	2.62	0.31277	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.475155	0.21847	N	0.068223	T	0.17619	0.0423	L	0.53729	1.69	0.09310	N	0.999998	P;P;P	0.41420	0.749;0.744;0.604	B;B;B	0.39971	0.269;0.315;0.311	T	0.07046	-1.0793	10	0.48119	T	0.1	.	4.3003	0.10922	0.4884:0.2758:0.1624:0.0734	.	877;954;954	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	F	954;877;954	ENSP00000388062:L954F;ENSP00000404475:L877F;ENSP00000287097:L954F	ENSP00000287097:L954F	L	+	1	0	CD109	74559228	0.005000	0.15991	0.992000	0.48379	0.978000	0.69477	0.215000	0.17562	0.896000	0.36366	0.655000	0.94253	CTT		0.303	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493		10	35	0	0	0	0.006214	0	10	35		
COL12A1	1303	broad.mit.edu	37	6	75831126	75831126	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:75831126G>C	ENST00000322507.8	-	44	7287	c.6978C>G	c.(6976-6978)ttC>ttG	p.F2326L	COL12A1_ENST00000483888.2_Missense_Mutation_p.F2326L|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1162L|COL12A1_ENST00000416123.2_Missense_Mutation_p.F2326L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2326	VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CATCAGTCAAGAACACAATAT	0.388																																						uc003phs.2		NaN																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(6976-6978)TTC>TTG		collagen, type XII, alpha 1 long isoform							105.0	102.0	103.0					6																	75831126		1872	4110	5982	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75831126G>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6978C>G	6.37:g.75831126G>C	ENSP00000325146:p.Phe2326Leu					COL12A1_uc003pht.2_Missense_Mutation_p.F1162L	p.F2326L	NM_004370	NP_004361	Q99715	COCA1_HUMAN			44	7144	-			2326			VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.6978C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181516	0.78677	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.76	3.98	0.46160	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	M	0.82433	2.59	0.43364	D	0.995444	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.87764	0.2600	10	0.39692	T	0.17	.	11.9138	0.52753	0.1397:0.0:0.8603:0.0	.	1162;2326	Q99715-2;Q99715	.;COCA1_HUMAN	L	2326;2326;1162;2326;2326	ENSP00000325146:F2326L;ENSP00000305147:F1162L;ENSP00000412864:F2326L;ENSP00000421216:F2326L	ENSP00000325146:F2326L	F	-	3	2	COL12A1	75887846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.939000	0.63526	1.445000	0.47624	0.655000	0.94253	TTC		0.388	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370		25	79	0	0	0	0.00632	0	25	79		
MDN1	23195	broad.mit.edu	37	6	90442463	90442463	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90442463G>A	ENST00000369393.3	-	34	4870	c.4755C>T	c.(4753-4755)ttC>ttT	p.F1585F	MDN1_ENST00000428876.1_Silent_p.F1585F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1585					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGTCAATGAAATCCAGCA	0.438																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(4753-4755)TTC>TTT		MDN1, midasin homolog							125.0	110.0	116.0					6																	90442463		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90442463G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4755C>T	6.37:g.90442463G>A							p.F1585F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	34	4871	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1585					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.4755C>T	CCDS5024.1																																																																																				0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				14	88	0	0	0	0.003163	0	14	88		
CASP8AP2	9994	broad.mit.edu	37	6	90577917	90577917	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:90577917G>C	ENST00000551025.1	+	0	6345									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTTCAGATAAGATGGGTCATA	0.368																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(4906-4908)AAG>AAC		caspase 8 associated protein 2							57.0	57.0	57.0					6																	90577917		1899	4113	6012			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577917G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577917G>C						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K1636N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K1636N	p.K1636N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	5104	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1636						Missense_Mutation	SNP	ENST00000551025.1	37	c.4908G>C																																																																																					0.368	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		14	45	0	0	0	0.003163	0	14	45		
GPR63	81491	broad.mit.edu	37	6	97247300	97247300	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:97247300C>A	ENST00000229955.3	-	2	653	c.308G>T	c.(307-309)tGc>tTc	p.C103F	GPR63_ENST00000417980.1_Missense_Mutation_p.C103F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AACCATGAGGCAAACAACCAA	0.443																																						uc010kcl.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(307-309)TGC>TTC		G protein-coupled receptor 63							96.0	92.0	94.0					6																	97247300		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247300C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.308G>T	6.37:g.97247300C>A	ENSP00000229955:p.Cys103Phe					GPR63_uc003pou.2_Missense_Mutation_p.C103F	p.C103F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	786	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	103			Helical; Name=1; (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.308G>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537409	0.65085	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.72942	-0.7;-0.7;-0.7	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85192	0.1010	10	0.59425	D	0.04	-9.9981	18.7433	0.91782	0.0:1.0:0.0:0.0	.	103	Q9BZJ6	GPR63_HUMAN	F	127;103;103;103	ENSP00000393170:C103F;ENSP00000229955:C103F;ENSP00000358273:C103F	ENSP00000229955:C103F	C	-	2	0	GPR63	97354021	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.445000	0.80570	2.516000	0.84829	0.650000	0.86243	TGC		0.443	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2				16	44	1	0	3.45872e-05	0.004007	4.147e-05	16	44		
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:109769984C>T	ENST00000358807.3	-	12	1926	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.D558N|MICAL1_ENST00000358577.3_Missense_Mutation_p.D453N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	539	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622																																						uc003ptj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1615-1617)GAT>AAT		microtubule associated monoxygenase, calponin							141.0	141.0	141.0					6																	109769984		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769984C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1615G>A	6.37:g.109769984C>T	ENSP00000351664:p.Asp539Asn					MICAL1_uc003ptk.2_Missense_Mutation_p.D539N|MICAL1_uc010kdr.2_Missense_Mutation_p.D453N|MICAL1_uc011eaq.1_Missense_Mutation_p.D558N	p.D539N	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	11	1869	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	539			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1615G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	4.328	0.060258	0.08339	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.97529	-4.42;-4.42;-4.42	5.62	3.85	0.44370	Calponin homology domain (5);	0.251366	0.41097	N	0.000944	D	0.87609	0.6220	L	0.41492	1.28	0.22610	N	0.998938	B;B;B	0.12630	0.003;0.006;0.003	B;B;B	0.20955	0.032;0.014;0.024	T	0.77067	-0.2725	10	0.14656	T	0.56	.	7.6289	0.28228	0.0:0.743:0.0:0.257	.	558;453;539	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	539;558;453;63	ENSP00000351664:D539N;ENSP00000357948:D558N;ENSP00000351385:D453N	ENSP00000351385:D453N	D	-	1	0	MICAL1	109876677	0.001000	0.12720	0.596000	0.28811	0.065000	0.16274	0.786000	0.26844	0.745000	0.32763	-0.258000	0.10820	GAT		0.622	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		56	122	0	0	0	0.00361	0	56	122		
RWDD1	51389	broad.mit.edu	37	6	116892761	116892761	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116892761G>A	ENST00000466444.2	+	1	232	c.16G>A	c.(16-18)Gag>Aag	p.E6K	RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000517800.1_3'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	6										NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AGATTACGGCGAGGAGCAGCG	0.677																																						uc003pxd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(16-18)GAG>AAG		RWD domain containing 1 isoform a							60.0	52.0	55.0					6																	116892761		2203	4299	6502	SO:0001583	missense	51389						protein binding	g.chr6:116892761G>A	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.16G>A	6.37:g.116892761G>A	ENSP00000420357:p.Glu6Lys					RWDD1_uc003pxb.2_5'UTR|RWDD1_uc003pxc.2_5'UTR	p.E6K	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	1	179	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	6					A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	c.16G>A	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103982	0.94245	.	.	ENSG00000111832	ENST00000466444	T	0.58358	0.34	5.88	4.12	0.48240	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	H	0.96889	3.9	0.80722	D	1	P	0.39862	0.692	P	0.47645	0.553	T	0.72090	-0.4395	10	0.87932	D	0	-8.665	10.2143	0.43160	0.1554:0.0:0.8446:0.0	.	6	Q9H446	RWDD1_HUMAN	K	6	ENSP00000420357:E6K	ENSP00000420357:E6K	E	+	1	0	RWDD1	116999454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.660000	0.68018	0.841000	0.35020	-0.136000	0.14681	GAG		0.677	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2		NM_015952		7	36	0	0	0	0.004482	0	7	36		
RWDD1	51389	broad.mit.edu	37	6	116914217	116914217	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116914217G>A	ENST00000466444.2	+	7	901	c.685G>A	c.(685-687)Gat>Aat	p.D229N	RWDD1_ENST00000392526.1_Missense_Mutation_p.D133N|RWDD1_ENST00000487832.2_Missense_Mutation_p.D133N	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	229										NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGATGAAGATGATCCAGACTA	0.468																																						uc003pxd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(685-687)GAT>AAT		RWD domain containing 1 isoform a							104.0	92.0	96.0					6																	116914217		2203	4300	6503	SO:0001583	missense	51389						protein binding	g.chr6:116914217G>A	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.685G>A	6.37:g.116914217G>A	ENSP00000420357:p.Asp229Asn					RWDD1_uc003pxb.2_Missense_Mutation_p.D133N|RWDD1_uc003pxc.2_Missense_Mutation_p.D133N	p.D229N	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	7	848	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	229					A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	c.685G>A	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224671	0.79576	.	.	ENSG00000111832	ENST00000466444;ENST00000392526;ENST00000487832	T;T;T	0.48836	0.8;0.8;0.8	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	M	0.81497	2.545	0.80722	D	1	B	0.30193	0.272	B	0.29785	0.107	T	0.50338	-0.8840	10	0.62326	D	0.03	-3.3621	16.1529	0.81634	0.0:0.0:0.8653:0.1347	.	229	Q9H446	RWDD1_HUMAN	N	229;133;133	ENSP00000420357:D229N;ENSP00000376311:D133N;ENSP00000428778:D133N	ENSP00000376311:D133N	D	+	1	0	RWDD1	117020910	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.804000	0.99143	1.415000	0.47037	-0.195000	0.12781	GAT		0.468	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2		NM_015952		12	50	0	0	0	0.000978	0	12	50		
RSPH4A	345895	broad.mit.edu	37	6	116938321	116938321	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:116938321G>A	ENST00000229554.5	+	1	672	c.535G>A	c.(535-537)Gac>Aac	p.D179N	RSPH4A_ENST00000368581.4_Missense_Mutation_p.D179N|RSPH4A_ENST00000368580.4_Missense_Mutation_p.D179N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	179					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGAGATTTGACGTTTTTCA	0.502									Kartagener syndrome																													uc003pxe.2		NaN																	0					0						c.(535-537)GAC>AAC		radial spoke head 4 homolog A isoform 1							130.0	133.0	132.0					6																	116938321		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938321G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.535G>A	6.37:g.116938321G>A	ENSP00000229554:p.Asp179Asn					RSPH4A_uc010kee.2_Missense_Mutation_p.D179N	p.D179N	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	680	+			179					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.535G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	5.454	0.268838	0.10349	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.70164	-0.46;1.23;1.02	5.53	0.506	0.16961	.	0.596480	0.17637	N	0.167148	T	0.18173	0.0436	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.28202	-1.0051	10	0.09084	T	0.74	-1.4819	4.769	0.13146	0.2585:0.2923:0.4493:0.0	.	179;179	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	N	179	ENSP00000357570:D179N;ENSP00000229554:D179N;ENSP00000357569:D179N	ENSP00000229554:D179N	D	+	1	0	RSPH4A	117045014	0.048000	0.20356	0.007000	0.13788	0.363000	0.29612	1.431000	0.34925	-0.087000	0.12528	-0.165000	0.13383	GAC		0.502	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1		NM_001010892		26	155	0	0	0	0.004656	0	26	155		
GPRC6A	222545	broad.mit.edu	37	6	117127555	117127555	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:117127555G>A	ENST00000310357.3	-	3	1334	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.P438L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	438					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAAGGCGTTGGGGTTCTGACA	0.448																																						uc003pxj.1		NaN																	0				ovary(4)|skin(2)	6						c.(1312-1314)CCC>CTC		G protein-coupled receptor, family C, group 6,							97.0	86.0	90.0					6																	117127555		2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117127555G>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1313C>T	6.37:g.117127555G>A	ENSP00000309493:p.Pro438Leu					GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.P438L	p.P438L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	1335	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	438			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.1313C>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769145	0.31320	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.85171	-1.7;-1.95	5.36	4.49	0.54785	Extracellular ligand-binding receptor (1);	0.247257	0.28671	N	0.014536	T	0.65375	0.2685	L	0.28694	0.88	0.80722	D	1	B;B	0.19445	0.023;0.036	B;B	0.30029	0.022;0.11	T	0.61959	-0.6955	10	0.10902	T	0.67	.	13.9155	0.63895	0.0725:0.0:0.9275:0.0	.	438;438	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	L	438	ENSP00000309493:P438L;ENSP00000357537:P438L	ENSP00000309493:P438L	P	-	2	0	GPRC6A	117234248	0.998000	0.40836	0.993000	0.49108	0.806000	0.45545	4.099000	0.57755	1.498000	0.48600	0.650000	0.86243	CCC		0.448	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2				12	50	0	0	0	0.000978	0	12	50		
HSF2	3298	broad.mit.edu	37	6	122743440	122743440	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:122743440C>G	ENST00000368455.4	+	8	1019	c.827C>G	c.(826-828)tCc>tGc	p.S276C	HSF2_ENST00000452194.1_Missense_Mutation_p.S276C	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	276					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCTGATCCCTCCAAGTAAGGA	0.274																																						uc003pyu.2		NaN																	0					0						c.(826-828)TCC>TGC		heat shock transcription factor 2 isoform a							95.0	108.0	103.0					6																	122743440		2202	4297	6499	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122743440C>G	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.827C>G	6.37:g.122743440C>G	ENSP00000357440:p.Ser276Cys					HSF2_uc003pyv.2_Missense_Mutation_p.S276C	p.S276C	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	8	1014	+			276					B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.827C>G	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652996	0.67472	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.65	4.79	0.61399	Vertebrate heat shock transcription factor (1);	0.293724	0.32952	N	0.005456	T	0.43299	0.1241	L	0.44542	1.39	0.40174	D	0.977212	D;B	0.63880	0.993;0.005	P;B	0.52710	0.707;0.016	T	0.48811	-0.9002	9	0.56958	D	0.05	-5.2384	11.1696	0.48563	0.0:0.8588:0.0:0.1412	.	276;276	Q03933-2;Q03933	.;HSF2_HUMAN	C	276	.	ENSP00000357440:S276C	S	+	2	0	HSF2	122785139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.659000	0.54489	1.528000	0.49103	0.650000	0.86243	TCC		0.274	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1		NM_004506		43	165	0	0	0	0.00361	0	43	165		
CTGF	1490	broad.mit.edu	37	6	132271151	132271151	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:132271151C>G	ENST00000367976.3	-	4	891	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	231	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.E231Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCTGCTTCTCTAGCCTGCAG	0.537											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(691-693)GAG>CAG		connective tissue growth factor precursor							64.0	59.0	61.0					6																	132271151		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271151C>G	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.691G>C	6.37:g.132271151C>G	ENSP00000356954:p.Glu231Gln		OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594		p.E231Q	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	4	897	-	Breast(56;0.0602)		231			TSP type-1.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.691G>C	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519022	0.85495	.	.	ENSG00000118523	ENST00000367976	T	0.55413	0.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59710	-0.7403	10	0.54805	T	0.06	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	231	P29279	CTGF_HUMAN	Q	231	ENSP00000356954:E231Q	ENSP00000356954:E231Q	E	-	1	0	CTGF	132312844	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GAG		0.537	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2		NM_001901		14	31	0	0	0	0.004007	0	14	31		
AHI1	54806	broad.mit.edu	37	6	135679284	135679284	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:135679284C>G	ENST00000367800.4	-	22	3367	c.3151G>C	c.(3151-3153)Gat>Cat	p.D1051H	AHI1_ENST00000457866.2_Missense_Mutation_p.D1051H|AHI1_ENST00000417892.2_Missense_Mutation_p.D405H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1051	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGTGCTGTATCTACCTGATGG	0.353																																						uc003qgi.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3151-3153)GAT>CAT		Abelson helper integration site 1 isoform a							306.0	295.0	298.0					6																	135679284		1861	4100	5961	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135679284C>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3151G>C	6.37:g.135679284C>G	ENSP00000356774:p.Asp1051His					AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.D501H|AHI1_uc003qgh.2_Missense_Mutation_p.D1051H|AHI1_uc003qgj.2_Missense_Mutation_p.D1051H|AHI1_uc003qgk.3_RNA	p.D1051H	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	24	3535	-	Breast(56;0.239)|Colorectal(23;0.24)		1051			SH3.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.3151G>C	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.647491|2.647491	0.47258|0.47258	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	T;T;T;T|.	0.63417|.	0.24;0.24;-0.04;0.24|.	4.97|4.97	4.1|4.1	0.47936|0.47936	Src homology-3 domain (1);|.	0.563674|.	0.19257|.	N|.	0.118774|.	T|.	0.43144|.	0.1234|.	L|L	0.39898|0.39898	1.24|1.24	0.41468|0.41468	D|D	0.988081|0.988081	D;D|.	0.76494|.	0.98;0.999|.	P;D|.	0.69142|.	0.557;0.962|.	T|.	0.38001|.	-0.9681|.	10|.	0.45353|.	T|.	0.12|.	-22.9635|-22.9635	12.2043|12.2043	0.54342|0.54342	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	1051;1051|.	Q8N157;Q4FD35|.	AHI1_HUMAN;.|.	H|Y	1051;1051;405;1051|550	ENSP00000356774:D1051H;ENSP00000388650:D1051H;ENSP00000416867:D405H;ENSP00000265602:D1051H|.	ENSP00000265602:D1051H|.	D|X	-|-	1|3	0|2	AHI1|AHI1	135720977|135720977	0.997000|0.997000	0.39634|0.39634	0.368000|0.368000	0.25939|0.25939	0.955000|0.955000	0.61496|0.61496	2.968000|2.968000	0.49224|0.49224	1.418000|1.418000	0.47098|0.47098	0.557000|0.557000	0.71058|0.71058	GAT|TAG		0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1		NM_017651		75	295	0	0	0	0.00361	0	75	295		
MAP7	9053	broad.mit.edu	37	6	136681163	136681163	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:136681163C>G	ENST00000354570.3	-	14	2220	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	MAP7_ENST00000432797.2_Missense_Mutation_p.E458Q|MAP7_ENST00000454590.1_Missense_Mutation_p.E626Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E589Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E589Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	604					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATAATCTCCTCAAGTCGCTAT	0.343																																						uc003qgz.2		NaN																	0					0						c.(1810-1812)GAG>CAG		microtubule-associated protein 7							80.0	86.0	84.0					6																	136681163		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136681163C>G	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1810G>C	6.37:g.136681163C>G	ENSP00000346581:p.Glu604Gln					MAP7_uc011edf.1_Missense_Mutation_p.E589Q|MAP7_uc011edg.1_Missense_Mutation_p.E634Q|MAP7_uc010kgu.2_Missense_Mutation_p.E626Q|MAP7_uc011edh.1_Missense_Mutation_p.E589Q|MAP7_uc010kgv.2_Missense_Mutation_p.E626Q|MAP7_uc010kgs.2_Missense_Mutation_p.E458Q|MAP7_uc011edi.1_Missense_Mutation_p.E458Q|MAP7_uc010kgq.1_Missense_Mutation_p.E510Q|MAP7_uc003qha.1_Missense_Mutation_p.E567Q	p.E604Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	14	2056	-	Colorectal(23;0.24)		604			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1810G>C	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057229	0.93846	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.95	5.95	0.96441	.	0.131301	0.34828	N	0.003644	T	0.61035	0.2315	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999;0.999;0.999	T	0.66164	-0.5992	10	0.59425	D	0.04	-11.6846	20.3886	0.98946	0.0:1.0:0.0:0.0	.	589;626;589;626;510;567;604	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	Q	604;626;589;589;458;510	ENSP00000346581:E604Q;ENSP00000414712:E626Q;ENSP00000445737:E589Q;ENSP00000400790:E589Q;ENSP00000414879:E458Q	ENSP00000344217:E510Q	E	-	1	0	MAP7	136722856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.112000	0.77086	2.824000	0.97209	0.655000	0.94253	GAG		0.343	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2		NM_003980		18	51	0	0	0	0.006122	0	18	51		
KIAA1244	57221	broad.mit.edu	37	6	138612877	138612877	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:138612877G>C	ENST00000251691.4	+	19	3221	c.3055G>C	c.(3055-3057)Gaa>Caa	p.E1019Q		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TAGGGTGTGTGAATACGTGGG	0.602																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(3055-3057)GAA>CAA		brefeldin A-inhibited guanine							21.0	24.0	23.0					6																	138612877		2202	4299	6501	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138612877G>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3055G>C	6.37:g.138612877G>C	ENSP00000251691:p.Glu1019Gln						p.E1019Q	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	19	3055	+	Breast(32;0.135)		1019						Missense_Mutation	SNP	ENST00000251691.4	37	c.3055G>C	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741739	0.89573	.	.	ENSG00000112379	ENST00000251691	T	0.19250	2.16	5.55	5.55	0.83447	.	0.124434	0.56097	D	0.000029	T	0.35770	0.0943	M	0.64997	1.995	0.58432	D	0.999999	D	0.69078	0.997	D	0.75484	0.986	T	0.01393	-1.1366	10	0.30078	T	0.28	-18.6859	19.1035	0.93283	0.0:0.0:1.0:0.0	.	1019	Q5TH69	BIG3_HUMAN	Q	1019	ENSP00000251691:E1019Q	ENSP00000251691:E1019Q	E	+	1	0	KIAA1244	138654570	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	9.792000	0.99085	2.612000	0.88384	0.655000	0.94253	GAA		0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		4	13	0	0	0	0.000248	0	4	13		
TAB2	23118	broad.mit.edu	37	6	149700238	149700238	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149700238G>C	ENST00000367456.1	+	4	1764	c.1187G>C	c.(1186-1188)gGa>gCa	p.G396A	TAB2_ENST00000538427.1_Missense_Mutation_p.G396A|TAB2_ENST00000286332.5_Missense_Mutation_p.G396A|TAB2_ENST00000536230.1_Missense_Mutation_p.G364A|TAB2_ENST00000392282.1_Missense_Mutation_p.G396A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	396					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCTGCCACAGGAGATGAACAG	0.512																																						uc003qmj.2		NaN																	0					0						c.(1186-1188)GGA>GCA		mitogen-activated protein kinase kinase kinase 7							70.0	65.0	67.0					6																	149700238		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700238G>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1187G>C	6.37:g.149700238G>C	ENSP00000356426:p.Gly396Ala					TAB2_uc011eec.1_Missense_Mutation_p.G364A|TAB2_uc010kia.1_Missense_Mutation_p.G396A|TAB2_uc010kib.1_Missense_Mutation_p.G396A|TAB2_uc003qmk.3_RNA	p.G396A	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1365	+			396					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1187G>C	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919655	0.17982	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.65	5.65	0.86999	.	0.115829	0.64402	D	0.000019	T	0.04724	0.0128	N	0.14661	0.345	0.47862	D	0.999533	B;B	0.29378	0.243;0.243	B;B	0.27380	0.079;0.079	T	0.10989	-1.0606	10	0.06625	T	0.88	-8.4724	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	364;396	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	A	364;396;396;396;396	ENSP00000443206:G364A;ENSP00000376106:G396A;ENSP00000445752:G396A;ENSP00000356426:G396A;ENSP00000286332:G396A	ENSP00000286332:G396A	G	+	2	0	TAB2	149741931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.820000	0.55693	2.941000	0.99782	0.655000	0.94253	GGA		0.512	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				10	45	0	0	0	0.008291	0	10	45		
TAB2	23118	broad.mit.edu	37	6	149730837	149730837	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:149730837G>C	ENST00000367456.1	+	8	2641	c.2064G>C	c.(2062-2064)gaG>gaC	p.E688D	TAB2_ENST00000538427.1_Missense_Mutation_p.E688D|TAB2_ENST00000286332.5_Missense_Mutation_p.E688D|TAB2_ENST00000536230.1_Missense_Mutation_p.E656D			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	688					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AACAGTGTGAGATGCCAAGGC	0.433																																						uc003qmj.2		NaN																	0					0						c.(2062-2064)GAG>GAC		mitogen-activated protein kinase kinase kinase 7							160.0	150.0	154.0					6																	149730837		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149730837G>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.2064G>C	6.37:g.149730837G>C	ENSP00000356426:p.Glu688Asp					TAB2_uc011eec.1_Missense_Mutation_p.E656D|TAB2_uc003qmk.3_RNA	p.E688D	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			7	2242	+			688			RanBP2-type.		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.2064G>C	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575466	0.28092	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.87	5.01	0.66863	Zinc finger, RanBP2-type (3);	0.044233	0.85682	D	0.000000	T	0.17789	0.0427	N	0.16201	0.385	0.80722	D	1	B;B	0.16603	0.018;0.008	B;B	0.20184	0.028;0.013	T	0.11717	-1.0576	10	0.59425	D	0.04	-10.9691	5.6876	0.17811	0.1939:0.1589:0.6472:0.0	.	656;688	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	D	656;688;688;688	ENSP00000443206:E656D;ENSP00000445752:E688D;ENSP00000356426:E688D;ENSP00000286332:E688D	ENSP00000286332:E688D	E	+	3	2	TAB2	149772530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.239000	0.32719	1.632000	0.50472	-0.140000	0.14226	GAG		0.433	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				36	100	0	0	0	0.005524	0	36	100		
SYNE1	23345	broad.mit.edu	37	6	152551728	152551728	+	Missense_Mutation	SNP	C	C	G	rs143639400		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:152551728C>G	ENST00000367255.5	-	115	21750	c.21149G>C	c.(21148-21150)cGa>cCa	p.R7050P	SYNE1_ENST00000356820.4_Missense_Mutation_p.R1574P|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6662P|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7050P|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6979P|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6979P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7050					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)			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)		ATCTCCAATTCGATGCTGTTG	0.393										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21148-21150)CGA>CCA		spectrin repeat containing, nuclear envelope 1							255.0	214.0	228.0					6																	152551728		2203	4300	6503	SO:0001583	missense	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.chr6:152551728C>G	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.21149G>C	6.37:g.152551728C>G	ENSP00000356224:p.Arg7050Pro	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R1574P|SYNE1_uc003qos.3_Missense_Mutation_p.R1574P|SYNE1_uc003qot.3_Missense_Mutation_p.R6979P|SYNE1_uc003qou.3_Missense_Mutation_p.R7050P	p.R7050P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	115	21751	-		Ovarian(120;0.0955)	7050			Cytoplasmic (Potential).|Spectrin 22.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21149G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361706	0.41801	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.6	-3.74	0.04385	.	0.768340	0.11465	N	0.561384	T	0.18257	0.0438	L	0.55481	1.735	0.09310	N	1	P;P;P	0.52170	0.931;0.931;0.951	P;P;P	0.53450	0.726;0.726;0.606	T	0.12400	-1.0549	10	0.34782	T	0.22	.	8.3379	0.32225	0.0949:0.4104:0.0:0.4947	.	7050;7050;6979	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	P	7050;6979;7050;6979;6662;1574	ENSP00000356224:R7050P;ENSP00000396024:R6979P;ENSP00000265368:R7050P;ENSP00000390975:R6979P;ENSP00000341887:R6662P;ENSP00000349276:R1574P	ENSP00000265368:R7050P	R	-	2	0	SYNE1	152593421	0.000000	0.05858	0.000000	0.03702	0.317000	0.28152	0.029000	0.13666	-0.875000	0.04022	-0.253000	0.11424	CGA		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		25	131	0	0	0	0.004656	0	25	131		
SYTL3	94120	broad.mit.edu	37	6	159181754	159181754	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159181754G>A	ENST00000297239.9	+	14	1585	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	SYTL3_ENST00000360448.3_Missense_Mutation_p.R396K|SYTL3_ENST00000367081.3_Missense_Mutation_p.R190K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	464					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCACGGCCCAGAAAACTCCAA	0.567																																						uc003qrp.2		NaN																	0					0						c.(1390-1392)AGA>AAA		synaptotagmin-like 3							85.0	79.0	81.0					6																	159181754		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159181754G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1391G>A	6.37:g.159181754G>A	ENSP00000297239:p.Arg464Lys					SYTL3_uc011efp.1_Missense_Mutation_p.R464K|SYTL3_uc003qro.2_Missense_Mutation_p.R396K|SYTL3_uc003qrq.2_Missense_Mutation_p.R396K|SYTL3_uc003qrr.2_Missense_Mutation_p.R464K|SYTL3_uc003qrs.2_Missense_Mutation_p.R396K|SYTL3_uc011efq.1_Missense_Mutation_p.R190K	p.R464K	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1635	+		Breast(66;0.000776)|Ovarian(120;0.0303)	464					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1391G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.503071	0.04261	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.18016	2.25;2.24;2.84	4.06	2.26	0.28386	C2 calcium/lipid-binding domain, CaLB (1);	1.952510	0.02362	N	0.076953	T	0.04318	0.0119	L	0.57536	1.79	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.32587	-0.9901	10	0.02654	T	1	.	4.2163	0.10537	0.2047:0.1942:0.6011:0.0	.	190;464;396	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	K	396;464;464;190	ENSP00000353631:R396K;ENSP00000297239:R464K;ENSP00000356048:R190K	ENSP00000297239:R464K	R	+	2	0	SYTL3	159101742	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.799000	0.27028	0.668000	0.31126	0.655000	0.94253	AGA		0.567	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				17	41	0	0	0	0.006122	0	17	41		
SYTL3	94120	broad.mit.edu	37	6	159184504	159184504	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:159184504G>T	ENST00000297239.9	+	16	1880	c.1686G>T	c.(1684-1686)atG>atT	p.M562I	SYTL3_ENST00000360448.3_Missense_Mutation_p.M494I|SYTL3_ENST00000367081.3_Missense_Mutation_p.M288I|MIR3918_ENST00000581555.1_RNA			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	562	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCTTTGGAATGAACGACCGCT	0.488																																						uc003qrp.2		NaN																	0					0						c.(1684-1686)ATG>ATT		synaptotagmin-like 3							95.0	93.0	93.0					6																	159184504		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159184504G>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1686G>T	6.37:g.159184504G>T	ENSP00000297239:p.Met562Ile					SYTL3_uc011efp.1_Missense_Mutation_p.M562I|SYTL3_uc003qro.2_Missense_Mutation_p.M494I|SYTL3_uc003qrq.2_Missense_Mutation_p.M494I|SYTL3_uc003qrr.2_Missense_Mutation_p.M562I|SYTL3_uc003qrs.2_Missense_Mutation_p.M494I|SYTL3_uc011efq.1_Missense_Mutation_p.M288I	p.M562I	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	16	1930	+		Breast(66;0.000776)|Ovarian(120;0.0303)	562			C2 2.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1686G>T	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	4.323	0.059219	0.08339	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	T;T;T	0.07444	3.19;3.19;3.19	4.73	3.85	0.44370	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.593886	0.15166	N	0.276889	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.19445	0.013;0.017;0.036	B;B;B	0.20384	0.022;0.023;0.029	T	0.48175	-0.9058	10	0.18710	T	0.47	.	6.4585	0.21944	0.1232:0.3347:0.5421:0.0	.	288;562;494	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	I	494;562;288	ENSP00000353631:M494I;ENSP00000297239:M562I;ENSP00000356048:M288I	ENSP00000297239:M562I	M	+	3	0	SYTL3	159104492	0.011000	0.17503	0.052000	0.19188	0.013000	0.08279	1.362000	0.34148	1.274000	0.44362	0.650000	0.86243	ATG		0.488	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1				13	85	1	0	1.5842e-08	0.001855	1.93326e-08	13	85		
RPS6KA2	6196	broad.mit.edu	37	6	166844058	166844058	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr6:166844058C>T	ENST00000265678.4	-	16	1687	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	RPS6KA2_ENST00000481261.2_Silent_p.L399L|RPS6KA2_ENST00000510118.1_Silent_p.L513L|RPS6KA2_ENST00000405189.3_Silent_p.L399L|RPS6KA2_ENST00000503859.1_Silent_p.L496L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	488	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACCACGCATCAGCTCCATTA	0.577																																						uc003qvb.1		NaN																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1462-1464)CTG>CTA		ribosomal protein S6 kinase, 90kDa, polypeptide							112.0	92.0	99.0					6																	166844058		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166844058C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1464G>A	6.37:g.166844058C>T						RPS6KA2_uc011ego.1_Silent_p.L399L|RPS6KA2_uc010kkl.1_Silent_p.L399L|RPS6KA2_uc003qvc.1_Silent_p.L496L|RPS6KA2_uc003qvd.1_Silent_p.L513L	p.L488L	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	16	1683	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	488			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1464G>A	CCDS5294.1																																																																																				0.577	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3		NM_021135		14	45	0	0	0	0.00245	0	14	45		
TTYH3	80727	broad.mit.edu	37	7	2701309	2701309	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2701309C>G	ENST00000258796.7	+	14	1713	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C	TTYH3_ENST00000407643.1_Missense_Mutation_p.S471C|TTYH3_ENST00000403167.1_Missense_Mutation_p.S332C	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	503					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CAGTACACCTCCAGCATGAGA	0.682																																						uc003smp.2		NaN																	0					0						c.(1507-1509)TCC>TGC		tweety 3							47.0	30.0	36.0					7																	2701309		2202	4297	6499	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2701309C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1508C>G	7.37:g.2701309C>G	ENSP00000258796:p.Ser503Cys					TTYH3_uc010ksn.2_Missense_Mutation_p.S223C|TTYH3_uc003smq.2_Missense_Mutation_p.S332C	p.S503C	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	14	1695	+		Ovarian(82;0.0112)	503			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.1508C>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168812	0.94768	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.44482	0.92;0.92;0.92	4.53	4.53	0.55603	.	0.144262	0.47093	U	0.000254	T	0.54159	0.1841	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;P	0.65443	0.935;0.87	T	0.59595	-0.7425	10	0.72032	D	0.01	.	17.2597	0.87066	0.0:1.0:0.0:0.0	.	332;503	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	C	503;471;332	ENSP00000258796:S503C;ENSP00000385316:S471C;ENSP00000385015:S332C	ENSP00000258796:S503C	S	+	2	0	TTYH3	2667835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.250000	0.78287	2.063000	0.61619	0.561000	0.74099	TCC		0.682	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2		XM_166523		8	15	0	0	0	0.004482	0	8	15		
CARD11	84433	broad.mit.edu	37	7	2957020	2957020	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:2957020C>G	ENST00000396946.4	-	20	3011		c.e20-1			NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11						Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCAGGGTGTTCTGAAATGAAT	0.562			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.e20-1		caspase recruitment domain family, member 11							31.0	41.0	38.0					7																	2957020		2203	4298	6501	SO:0001630	splice_region_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2957020C>G	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2608-1G>C	7.37:g.2957020C>G							p.N870_splice	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	20	3012	-		Ovarian(82;0.0115)						A4D1Z7|Q2NKN7|Q548H3	Splice_Site	SNP	ENST00000396946.4	37	c.2608_splice	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007617	0.35415	.	.	ENSG00000198286	ENST00000396946	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.126	0.81395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CARD11	2923546	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.149000	0.64863	2.227000	0.72691	0.561000	0.74099	.		0.562	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415	Intron	19	45	0	0	0	0.007413	0	19	45		
MIOS	54468	broad.mit.edu	37	7	7622975	7622975	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:7622975C>G	ENST00000340080.4	+	6	2041	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.I540M	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	540						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAATCCAAATCCTGAATGAAG	0.388																																						uc003srf.2		NaN																	0					0						c.(1618-1620)ATC>ATG		missing oocyte, meiosis regulator, homolog							107.0	102.0	104.0					7																	7622975		1860	4100	5960	SO:0001583	missense	54468							g.chr7:7622975C>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1620C>G	7.37:g.7622975C>G	ENSP00000339881:p.Ile540Met					MIOS_uc003srg.2_Missense_Mutation_p.I75M|MIOS_uc010ktq.2_5'Flank	p.I540M	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			6	1928	+			540					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1620C>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491384	0.64074	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.54675	0.56;0.56	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.78049	2.395	0.58432	D	0.999999	P	0.52463	0.953	P	0.58520	0.84	T	0.63773	-0.6561	10	0.62326	D	0.03	-10.4369	5.6761	0.17749	0.1389:0.6267:0.0:0.2343	.	540	Q9NXC5	MIO_HUMAN	M	540	ENSP00000339881:I540M;ENSP00000384088:I540M	ENSP00000339881:I540M	I	+	3	3	MIOS	7589500	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.408000	0.21065	0.762000	0.33152	0.650000	0.86243	ATC		0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005		12	52	0	0	0	0.001855	0	12	52		
THSD7A	221981	broad.mit.edu	37	7	11468661	11468661	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:11468661C>G	ENST00000423059.4	-	14	3407	c.3156G>C	c.(3154-3156)ggG>ggC	p.G1052G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1052	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACACCACTCCCACAGGACT	0.517										HNSCC(18;0.044)																												uc003ssf.3		NaN																	0				ovary(3)	3						c.(3154-3156)GGG>GGC		thrombospondin, type I, domain containing 7A							212.0	210.0	211.0					7																	11468661		2055	4185	6240	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11468661C>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3156G>C	7.37:g.11468661C>G		HNSCC(18;0.044)					p.G1052G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3408	-			1052			TSP type-1 11.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.3156G>C	CCDS47543.1																																																																																				0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4		XM_928187.2		95	283	0	0	0	0.00361	0	95	283		
HOXA10	3206	broad.mit.edu	37	7	27211670	27211670	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:27211670G>T	ENST00000283921.4	-	2	1080	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|HOXA10_ENST00000396344.4_Missense_Mutation_p.L45I|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA9_ENST00000497089.1_5'Flank|MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519935.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	361					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TCTCGAGTAAGGTACATATTG	0.522																																						uc011jzm.1		NaN																	0					0						c.(1081-1083)CTT>ATT		homeobox A10 isoform a							116.0	111.0	113.0					7																	27211670		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211670G>T		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1081C>A	7.37:g.27211670G>T	ENSP00000283921:p.Leu361Ile					MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.L45I	p.L361I	NM_018951	NP_061824	P31260	HXA10_HUMAN			2	1111	-			361			Homeobox.		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1081C>A	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869949	0.72065	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.96913	-4.17;-4.17	5.68	5.68	0.88126	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	D	0.000021	D	0.95108	0.8415	N	0.02985	-0.445	0.51767	D	0.99993	D;P	0.89917	1.0;0.942	D;D	0.91635	0.999;0.952	D	0.97368	0.9974	10	0.87932	D	0	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	361;45	P31260;Q504T1	HXA10_HUMAN;.	I	361;45	ENSP00000283921:L361I;ENSP00000379633:L45I	ENSP00000283921:L361I	L	-	1	0	HOXA10	27178195	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.468000	0.73551	2.688000	0.91661	0.563000	0.77884	CTT		0.522	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2				75	696	1	0	1.52378e-38	0.00361	1.95217e-38	75	696		
KBTBD2	25948	broad.mit.edu	37	7	32909880	32909880	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:32909880C>G	ENST00000304056.4	-	4	1648	c.949G>C	c.(949-951)Gat>Cat	p.D317H	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	317										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATGTAGATATCATTATCAGGA	0.413																																						uc003tdb.2		NaN																	0					0						c.(949-951)GAT>CAT		kelch repeat and BTB (POZ) domain containing 2							170.0	160.0	163.0					7																	32909880		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909880C>G	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.949G>C	7.37:g.32909880C>G	ENSP00000302586:p.Asp317His					AVL9_uc011kai.1_Intron	p.D317H	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1608	-			317			Kelch 1.		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.949G>C	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376667	0.61735	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.66815	-0.23	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.73414	-0.3990	10	0.13853	T	0.58	.	20.0752	0.97739	0.0:1.0:0.0:0.0	.	317	Q8IY47	KBTB2_HUMAN	H	317;124	ENSP00000302586:D317H	ENSP00000302586:D317H	D	-	1	0	KBTBD2	32876405	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.445000	0.80570	2.826000	0.97356	0.491000	0.48974	GAT		0.413	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1		XM_291224		28	83	0	0	0	0.00632	0	28	83		
C7orf25	79020	broad.mit.edu	37	7	42949965	42949965	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:42949965C>G	ENST00000350427.4	-	2	810	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C7orf25_ENST00000447342.1_Missense_Mutation_p.E179Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.E237Q|C7orf25_ENST00000438029.1_Missense_Mutation_p.E179Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	179										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTCAGCTTCTCTGCCATGGGG	0.493																																						uc003thw.2		NaN																	0				skin(1)	1						c.(535-537)GAG>CAG		hypothetical protein LOC79020 b							85.0	79.0	81.0					7																	42949965		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949965C>G	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.535G>C	7.37:g.42949965C>G	ENSP00000343364:p.Glu179Gln					C7orf25_uc010kxq.2_Missense_Mutation_p.E179Q|C7orf25_uc003thx.3_Missense_Mutation_p.E237Q|C7orf25_uc010kxr.2_Missense_Mutation_p.E237Q	p.E179Q	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN			2	999	-			179					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.535G>C	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387844	0.42308	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.8	5.8	0.92144	.	0.254298	0.44688	D	0.000436	T	0.40956	0.1138	L	0.44542	1.39	0.58432	D	0.999991	B;B	0.26935	0.164;0.005	B;B	0.27608	0.081;0.028	T	0.11690	-1.0577	10	0.32370	T	0.25	-14.602	20.1083	0.97900	0.0:1.0:0.0:0.0	.	237;179	B4DQM3;Q9BPX7	.;CG025_HUMAN	Q	179;179;237;179	ENSP00000343364:E179Q;ENSP00000413029:E179Q;ENSP00000416290:E237Q;ENSP00000396597:E179Q	ENSP00000343364:E179Q	E	-	1	0	C7orf25	42916490	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	5.745000	0.68672	2.764000	0.94973	0.556000	0.70494	GAG		0.493	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2		NM_024054		13	88	0	0	0	0.001368	0	13	88		
GCK	2645	broad.mit.edu	37	7	44192943	44192943	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44192943C>T	ENST00000403799.3	-	2	634	c.165G>A	c.(163-165)gtG>gtA	p.V55V	GCK_ENST00000345378.2_Silent_p.V56V|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000395796.3_Silent_p.V54V|GCK_ENST00000437084.1_Silent_p.V55V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	55	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCATCTTCACACTGGCCT	0.602																																						uc003tkl.2		NaN																	0				skin(3)|lung(1)	4						c.(163-165)GTG>GTA		glucokinase isoform 1							208.0	174.0	186.0					7																	44192943		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44192943C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.165G>A	7.37:g.44192943C>T						GCK_uc003tkj.1_Silent_p.V54V|GCK_uc003tkk.1_Silent_p.V56V	p.V55V	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	635	-			55					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.165G>A	CCDS5479.1																																																																																				0.602	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2				65	131	0	0	0	0.00361	0	65	131		
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44193018C>A	ENST00000403799.3	-	2	559	c.90G>T	c.(88-90)ctG>ctT	p.L30L	GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000395796.3_Silent_p.L29L|GCK_ENST00000437084.1_Silent_p.L30L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	30	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632																																						uc003tkl.2		NaN																	0				skin(3)|lung(1)	4						c.(88-90)CTG>CTT		glucokinase isoform 1							229.0	202.0	211.0					7																	44193018		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44193018C>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.90G>T	7.37:g.44193018C>A						GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L	p.L30L	NM_000162	NP_000153	P35557	HXK4_HUMAN			2	560	-			30					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.90G>T	CCDS5479.1																																																																																				0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2				83	225	1	0	9.47799e-51	0.00361	1.21751e-50	83	225		
YKT6	10652	broad.mit.edu	37	7	44250704	44250704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:44250704C>G	ENST00000223369.2	+	6	629	c.542C>G	c.(541-543)tCt>tGt	p.S181C	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	181	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAACACAGTCTAAAGCCTTC	0.502																																						uc003tkm.2		NaN																	0					0						c.(541-543)TCT>TGT		YKT6 v-SNARE protein							82.0	80.0	81.0					7																	44250704		2203	4300	6503	SO:0001583	missense	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44250704C>G	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.542C>G	7.37:g.44250704C>G	ENSP00000223369:p.Ser181Cys					YKT6_uc011kbv.1_Intron	p.S181C	NM_006555	NP_006546	O15498	YKT6_HUMAN			6	699	+			181			v-SNARE coiled-coil homology.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	c.542C>G	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344959	0.82022	.	.	ENSG00000106636	ENST00000223369	T	0.55588	0.51	5.27	5.27	0.74061	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88583	0.3138	10	0.87932	D	0	-1.4289	15.8307	0.78749	0.0:1.0:0.0:0.0	.	181	O15498	YKT6_HUMAN	C	181	ENSP00000223369:S181C	ENSP00000223369:S181C	S	+	2	0	YKT6	44217229	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.158000	0.77470	2.465000	0.83290	0.655000	0.94253	TCT		0.502	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2		NM_006555		12	41	0	0	0	0.000978	0	12	41		
ABCA13	154664	broad.mit.edu	37	7	48319282	48319282	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48319282C>T	ENST00000435803.1	+	18	8515	c.8491C>T	c.(8491-8493)Ctg>Ttg	p.L2831L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2831				L -> R (in Ref. 1; AAP13576). {ECO:0000305}.	transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAGGACTTCTGTTTAACAA	0.348																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(8491-8493)CTG>TTG		ATP binding cassette, sub-family A (ABC1),							88.0	90.0	89.0					7																	48319282		1821	4074	5895	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319282C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8491C>T	7.37:g.48319282C>T						ABCA13_uc010kys.1_5'Flank	p.L2831L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	8516	+			2831	L -> R (in Ref. 1; AAP13576).				K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8491C>T	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		48	116	0	0	0	0.00361	0	48	116		
ABCA13	154664	broad.mit.edu	37	7	48559842	48559842	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:48559842T>G	ENST00000435803.1	+	53	14027	c.14003T>G	c.(14002-14004)cTt>cGt	p.L4668R	ABCA13_ENST00000544596.1_Missense_Mutation_p.L398R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4668					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCACAGTACTTCTCCTCTTG	0.527																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14002-14004)CTT>CGT		ATP binding cassette, sub-family A (ABC1),							68.0	64.0	65.0					7																	48559842		1939	4154	6093	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48559842T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14003T>G	7.37:g.48559842T>G	ENSP00000411096:p.Leu4668Arg					ABCA13_uc010kys.1_Missense_Mutation_p.L1743R|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L398R	p.L4668R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			53	14028	+			4668			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14003T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651210	0.67472	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.88975	-2.45;-2.45;-2.45	5.32	5.32	0.75619	.	0.000000	0.43110	D	0.000619	D	0.93812	0.8021	M	0.77616	2.38	0.18873	N	0.999986	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.77557	0.926;0.99;0.99	D	0.88300	0.2949	10	0.87932	D	0	.	13.021	0.58787	0.0:0.0:0.0:1.0	.	398;2370;4668	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	R	4668;441;398	ENSP00000411096:L4668R;ENSP00000391042:L441R;ENSP00000442634:L398R	ENSP00000391042:L441R	L	+	2	0	ABCA13	48530388	0.666000	0.27475	0.008000	0.14137	0.151000	0.21798	5.481000	0.66826	2.020000	0.59435	0.533000	0.62120	CTT		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		5	43	0	0	0	0.000602	0	5	43		
POM121L12	285877	broad.mit.edu	37	7	53104099	53104099	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:53104099C>T	ENST00000408890.4	+	1	751	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	245										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGGAGCCTCAGTTTTTGTG	0.647																																						uc003tpz.2		NaN																	0					0						c.(733-735)CTC>CTT		POM121 membrane glycoprotein-like 12							48.0	56.0	53.0					7																	53104099		1999	4147	6146	SO:0001819	synonymous_variant	285877							g.chr7:53104099C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.735C>T	7.37:g.53104099C>T							p.L245L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	751	+			245					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.735C>T	CCDS43584.1																																																																																				0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595		17	66	0	0	0	0.004007	0	17	66		
SEPT14	346288	broad.mit.edu	37	7	55873034	55873034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:55873034G>A	ENST00000388975.3	-	9	1152	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	346					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTCCCTCTGACATTGATCA	0.348																																						uc003tqz.2		NaN																	0					0						c.(1036-1038)CAG>TAG		septin 14							90.0	84.0	86.0					7																	55873034		2202	4297	6499	SO:0001587	stop_gained	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55873034G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1036C>T	7.37:g.55873034G>A	ENSP00000373627:p.Gln346*						p.Q346*	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1153	-	Breast(14;0.214)		346			Potential.		A6NCC2|B4DXD6	Nonsense_Mutation	SNP	ENST00000388975.3	37	c.1036C>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380297	0.82682	.	.	ENSG00000154997	ENST00000388975	.	.	.	2.83	1.89	0.25635	.	0.457236	0.19825	N	0.105201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	7.294	0.26383	0.0:0.0:0.5232:0.4768	.	.	.	.	X	346	.	ENSP00000373627:Q346X	Q	-	1	0	SEPT14	55840528	1.000000	0.71417	0.650000	0.29550	0.708000	0.40852	3.512000	0.53407	0.697000	0.31718	0.650000	0.86243	CAG		0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2		NM_207366		5	52	0	0	0	0.000602	0	5	52		
AUTS2	26053	broad.mit.edu	37	7	70228261	70228261	+	Missense_Mutation	SNP	C	C	G	rs368899085		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:70228261C>G	ENST00000342771.4	+	7	1469	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	AUTS2_ENST00000406775.2_Missense_Mutation_p.S383C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	383	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCCACCCCTCTGCTCAGAGC	0.607																																						uc003tvw.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1147-1149)TCT>TGT		autism susceptibility candidate 2 isoform 1							61.0	61.0	61.0					7																	70228261		2200	4291	6491	SO:0001583	missense	26053							g.chr7:70228261C>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1148C>G	7.37:g.70228261C>G	ENSP00000344087:p.Ser383Cys					AUTS2_uc003tvx.3_Missense_Mutation_p.S383C|AUTS2_uc011keg.1_5'Flank	p.S383C	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1891	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	383			Ser-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1148C>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	7.179	0.589246	0.13812	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.34472	1.36;1.37	4.98	4.11	0.48088	.	0.390864	0.28555	N	0.014922	T	0.23410	0.0566	N	0.08118	0	0.41937	D	0.990592	B;B	0.24963	0.115;0.115	B;B	0.36378	0.223;0.223	T	0.08330	-1.0727	9	.	.	.	-0.9596	13.4055	0.60911	0.0:0.9233:0.0:0.0767	.	383;383	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	C	383	ENSP00000385263:S383C;ENSP00000344087:S383C	.	S	+	2	0	AUTS2	69866197	0.020000	0.18652	0.026000	0.17262	0.354000	0.29330	2.870000	0.48451	1.335000	0.45486	-0.222000	0.12452	TCT		0.607	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2				10	106	0	0	0	0.001368	0	10	106		
TYW1B	441250	broad.mit.edu	37	7	72081725	72081725	+	RNA	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:72081725G>C	ENST00000435769.2	-	0	1840				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCGGGGATCAGATCCACCAGC	0.473																																						uc011kej.1		NaN																	0					0						c.(1717-1719)CTG>GTG		tRNA-yW synthesizing protein 1 homolog B isoform																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081725G>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081725G>C						TYW1B_uc011keh.1_Missense_Mutation_p.L411V|TYW1B_uc011kei.1_Missense_Mutation_p.L199V	p.L573V	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			16	1876	-			573					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.1717C>G																																																																																					0.473	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2		NM_001145440		24	86	0	0	0	0.00278	0	24	86		
EIF4H	7458	broad.mit.edu	37	7	73588773	73588773	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:73588773G>A	ENST00000265753.8	+	1	198		c.e1+1		EIF4H_ENST00000353999.6_Splice_Site	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H						cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GCGGCAGAGGGTGAGGCGGGC	0.746																																						uc003uad.1		NaN																	0					0						c.e1+1		eukaryotic translation initiation factor 4H							16.0	16.0	16.0					7																	73588773		2198	4290	6488	SO:0001630	splice_region_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73588773G>A		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.59+1G>A	7.37:g.73588773G>A						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Splice_Site_p.G20_splice|EIF4H_uc010lbm.2_Splice_Site_p.G20_splice|EIF4H_uc003uae.1_Splice_Site_p.G20_splice|EIF4H_uc003uaf.1_Splice_Site	p.G20_splice	NM_022170	NP_071496	Q15056	IF4H_HUMAN			1	67	+								A8K3R1|D3DXF6|D3DXF8	Splice_Site	SNP	ENST00000265753.8	37	c.59_splice	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788031	0.70337	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7507	0.62906	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF4H	73226709	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.733000	0.62036	1.888000	0.54679	0.462000	0.41574	.		0.746	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2		NM_022170	Intron	9	55	0	0	0	0.000978	0	9	55		
FGL2	10875	broad.mit.edu	37	7	76828608	76828608	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76828608T>G	ENST00000248598.5	-	1	535	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	168						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATTTTCTATGTTGTTCATATT	0.388																																						uc003ugb.2		NaN																	0				skin(2)	2						c.(502-504)AAC>ACC		fibrinogen-like 2 precursor							123.0	114.0	117.0					7																	76828608		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828608T>G	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.503A>C	7.37:g.76828608T>G	ENSP00000248598:p.Asn168Thr					CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	p.N168T	NM_006682	NP_006673	Q14314	FGL2_HUMAN			1	543	-			168						Missense_Mutation	SNP	ENST00000248598.5	37	c.503A>C	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231803	0.39399	.	.	ENSG00000127951	ENST00000248598	T	0.59083	0.29	6.17	5.03	0.67393	.	0.119673	0.85682	D	0.000000	T	0.44746	0.1308	L	0.44542	1.39	0.51233	D	0.999914	B	0.27013	0.166	B	0.24269	0.052	T	0.37619	-0.9698	10	0.27785	T	0.31	.	7.583	0.27976	0.0:0.0709:0.1427:0.7864	.	168	Q14314	FGL2_HUMAN	T	168	ENSP00000248598:N168T	ENSP00000248598:N168T	N	-	2	0	FGL2	76666544	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.491000	0.53252	2.371000	0.80710	0.533000	0.62120	AAC		0.388	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1		NM_006682		28	88	0	0	0	0.005443	0	28	88		
GSAP	54103	broad.mit.edu	37	7	76984619	76984619	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:76984619G>A	ENST00000257626.7	-	16	1327	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	417					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GTGTTCTGCAGAAGCTGTAAT	0.502																																						uc003ugf.2		NaN																	0				central_nervous_system(1)	1						c.(1249-1251)CTG>TTG		pigeon homolog							98.0	101.0	100.0					7																	76984619		2203	4300	6503	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76984619G>A		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1249C>T	7.37:g.76984619G>A						PION_uc003ugg.1_Silent_p.L202L	p.L417L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			16	1328	-			417					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.1249C>T	CCDS34672.2																																																																																				0.502	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		42	122	0	0	0	0.00623	0	42	122		
PTPN12	5782	broad.mit.edu	37	7	77256781	77256781	+	Silent	SNP	C	C	T	rs371650087		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:77256781C>T	ENST00000248594.6	+	13	2057	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PTPN12_ENST00000435495.2_Silent_p.L465L|PTPN12_ENST00000415482.2_Silent_p.L476L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	595					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAACACCCCTCAGTTTTACTA	0.403																																						uc003ugh.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1783-1785)CTC>CTT		protein tyrosine phosphatase, non-receptor type		C	,,	0,4406		0,0,2203	153.0	146.0	148.0		1428,1395,1785	0.6	1.0	7		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN12	NM_001131008.1,NM_001131009.1,NM_002835.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	476/662,465/651,595/781	77256781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256781C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1785C>T	7.37:g.77256781C>T						PTPN12_uc011kgp.1_Silent_p.L476L|PTPN12_uc011kgq.1_Silent_p.L465L|PTPN12_uc010lds.2_Silent_p.L327L	p.L595L	NM_002835	NP_002826	Q05209	PTN12_HUMAN			13	1876	+			595					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.1785C>T	CCDS5592.1																																																																																				0.403	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3				44	134	0	0	0	0.002852	0	44	134		
CACNA2D1	781	broad.mit.edu	37	7	81667445	81667445	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:81667445C>T	ENST00000356253.5	-	11	1241	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G329E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	atctgtaattcctttggctGT	0.353																																						uc003uhr.1		NaN																	0				ovary(5)|pancreas(1)	6						c.(985-987)GGA>GAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						163.0	160.0	161.0					7																	81667445		2202	4300	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667445C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.986G>A	7.37:g.81667445C>T	ENSP00000348589:p.Gly329Glu						p.G329E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			11	1242	-			329			Extracellular (Potential).|VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.158568	0.94686	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.26810	1.71;1.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.53358	-0.8450	10	0.56958	D	0.05	-17.6557	20.6525	0.99598	0.0:1.0:0.0:0.0	.	329	P54289-2	.	E	329	ENSP00000349320:G329E;ENSP00000348589:G329E	ENSP00000284088:G329E	G	-	2	0	CACNA2D1	81505381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.842000	0.69417	2.890000	0.99128	0.585000	0.79938	GGA		0.353	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding					33	87	0	0	0	0.002096	0	33	87		
ZNF804B	219578	broad.mit.edu	37	7	88966042	88966042	+	Missense_Mutation	SNP	C	C	G	rs368481408		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:88966042C>G	ENST00000333190.4	+	4	4355	c.3746C>G	c.(3745-3747)tCg>tGg	p.S1249W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249							metal ion binding (GO:0046872)	p.S1249W(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCATTTTCGACTCTGACT	0.458										HNSCC(36;0.09)																												uc011khi.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3745-3747)TCG>TGG		zinc finger protein 804B							214.0	180.0	191.0					7																	88966042		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966042C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3746C>G	7.37:g.88966042C>G	ENSP00000329638:p.Ser1249Trp	HNSCC(36;0.09)					p.S1249W	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4284	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1249					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3746C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467273	0.43839	.	.	ENSG00000182348	ENST00000333190	T	0.10382	2.88	5.16	5.16	0.70880	.	0.127393	0.36066	N	0.002805	T	0.34919	0.0914	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.04855	-1.0922	10	0.87932	D	0	-7.7776	18.8226	0.92103	0.0:1.0:0.0:0.0	.	1249	A4D1E1	Z804B_HUMAN	W	1249	ENSP00000329638:S1249W	ENSP00000329638:S1249W	S	+	2	0	ZNF804B	88803978	1.000000	0.71417	0.860000	0.33809	0.012000	0.07955	6.985000	0.76193	2.670000	0.90874	0.561000	0.74099	TCG		0.458	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		14	169	0	0	0	0.001855	0	14	169		
STEAP1	26872	broad.mit.edu	37	7	89789150	89789150	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:89789150G>A	ENST00000297205.2	+	2	248	c.48G>A	c.(46-48)atG>atA	p.M16I	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	16					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TTTGGAAAATGAAGCCTAGGA	0.259																																						uc003ujx.2		NaN																	0					0						c.(46-48)ATG>ATA		six transmembrane epithelial antigen of the							72.0	78.0	76.0					7																	89789150		2193	4293	6486	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89789150G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.48G>A	7.37:g.89789150G>A	ENSP00000297205:p.Met16Ile					STEAP1_uc010lem.2_Missense_Mutation_p.M16I	p.M16I	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			2	248	+	all_hematologic(106;0.112)		16					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.48G>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799320	0.31869	.	.	ENSG00000164647	ENST00000297205	T	0.06068	3.35	4.88	3.99	0.46301	.	0.085063	0.51477	D	0.000082	T	0.06781	0.0173	L	0.58925	1.835	0.29834	N	0.829764	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.05818	-1.0862	10	0.27785	T	0.31	-24.4936	6.3199	0.21213	0.0974:0.1882:0.7143:0.0	.	16;16	B4E221;Q9UHE8	.;STEA1_HUMAN	I	16	ENSP00000297205:M16I	ENSP00000297205:M16I	M	+	3	0	STEAP1	89627086	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.719000	0.47244	2.698000	0.92095	0.491000	0.48974	ATG		0.259	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3		NM_012449		10	105	0	0	0	0.008291	0	10	105		
CDK14	5218	broad.mit.edu	37	7	90356077	90356077	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:90356077C>G	ENST00000380050.3	+	3	451	c.320C>G	c.(319-321)tCc>tGc	p.S107C	CDK14_ENST00000436577.2_Missense_Mutation_p.P10A|CDK14_ENST00000265741.3_Missense_Mutation_p.S89C|CDK14_ENST00000406263.1_Missense_Mutation_p.S61C			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	107					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGACCTCCTCCACTGGCAAA	0.458																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NaN																	0				lung(3)|ovary(1)	4						c.(319-321)TCC>TGC		PFTAIRE protein kinase 1							101.0	91.0	94.0					7																	90356077		2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356077C>G		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.320C>G	7.37:g.90356077C>G	ENSP00000369390:p.Ser107Cys					CDK14_uc003ukt.1_Missense_Mutation_p.S61C|CDK14_uc003ukv.1_Missense_Mutation_p.S61C|CDK14_uc003uku.1_Missense_Mutation_p.S61C|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.S89C|CDK14_uc010les.1_Missense_Mutation_p.S61C|CDK14_uc011khl.1_Missense_Mutation_p.P10A	p.S107C	NM_012395	NP_036527	O94921	CDK14_HUMAN			3	542	+			107					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.320C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.943257|1.943257	0.34283|0.34283	.|.	.|.	ENSG00000058091|ENSG00000058091	ENST00000436577|ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263	T|T;T;T;T;T;T;T	0.70516|0.72167	-0.49|2.1;2.1;2.1;2.1;-0.62;-0.63;-0.59	5.51|5.51	4.57|4.57	0.56435|0.56435	.|.	.|0.324544	.|0.29113	.|N	.|0.013105	T|T	0.59155|0.59155	0.2173|0.2173	N|N	0.19112|0.19112	0.55|0.55	0.24320|0.24320	N|N	0.995042|0.995042	B|B;B	0.02656|0.31351	0.0|0.32;0.07	B|B;B	0.01281|0.33254	0.0|0.16;0.111	T|T	0.61202|0.61202	-0.7110|-0.7110	9|10	0.72032|0.87932	D|D	0.01|0	-11.1594|-11.1594	15.79|15.79	0.78350|0.78350	0.0:0.8638:0.1362:0.0|0.0:0.8638:0.1362:0.0	.|.	10|89;107	E7EUK8|O94921-2;O94921	.|.;CDK14_HUMAN	A|C	10|61;61;61;61;107;61;89;61	ENSP00000398936:P10A|ENSP00000393616:S61C;ENSP00000410770:S61C;ENSP00000394570:S61C;ENSP00000406848:S61C;ENSP00000369390:S107C;ENSP00000265741:S89C;ENSP00000385034:S61C	ENSP00000398936:P10A|ENSP00000265741:S89C	P|S	+|+	1|2	0|0	CDK14|CDK14	90194013|90194013	0.994000|0.994000	0.37717|0.37717	0.995000|0.995000	0.50966|0.50966	0.966000|0.966000	0.64601|0.64601	4.323000|4.323000	0.59221|0.59221	2.588000|2.588000	0.87417|0.87417	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.458	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5		NM_012395		8	83	0	0	0	0.00308	0	8	83		
CYP51A1	1595	broad.mit.edu	37	7	91761093	91761093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:91761093C>T	ENST00000003100.8	-	2	451	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CYP51A1_ENST00000450723.1_5'UTR|LRRD1_ENST00000422722.1_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	90					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTTACCTTCTCATATGCATTT	0.318																																					GBM(70;1100 1190 11592 25836 51397)	uc003ulm.3		NaN																	0					0						c.(286-288)GAG>AAG		cytochrome P450, family 51, subfamily A,	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						31.0	32.0	32.0					7																	91761093		2201	4297	6498	SO:0001583	missense	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91761093C>T	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.286G>A	7.37:g.91761093C>T	ENSP00000003100:p.Glu96Lys					CYP51A1_uc011khn.1_5'UTR|CYP51A1_uc003uln.3_Missense_Mutation_p.E33K|uc003ulo.1_5'Flank	p.E96K	NM_000786	NP_000777	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		2	448	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		90					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	37	c.286G>A	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474173	0.63737	.	.	ENSG00000001630	ENST00000003100;ENST00000496998	T	0.64803	-0.12	5.4	5.4	0.78164	.	0.187251	0.56097	D	0.000028	T	0.48840	0.1522	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.006;0.008	T	0.34976	-0.9807	10	0.32370	T	0.25	.	19.5482	0.95308	0.0:1.0:0.0:0.0	.	36;90	B3KRC6;Q16850	.;CP51A_HUMAN	K	96;36	ENSP00000003100:E96K	ENSP00000003100:E96K	E	-	1	0	CYP51A1	91599029	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.477000	0.66799	2.686000	0.91538	0.650000	0.86243	GAG		0.318	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4				10	29	0	0	0	0.008291	0	10	29		
CASD1	64921	broad.mit.edu	37	7	94166908	94166908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:94166908C>G	ENST00000297273.4	+	9	1255	c.968C>G	c.(967-969)tCt>tGt	p.S323C		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	323						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCACTTTATCTATTATCGGA	0.358																																						uc003uni.3		NaN																	0				ovary(2)	2						c.(967-969)TCT>TGT		CAS1 domain containing 1 precursor							94.0	100.0	98.0					7																	94166908		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94166908C>G	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.968C>G	7.37:g.94166908C>G	ENSP00000297273:p.Ser323Cys					CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.S323C	p.S323C	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	1195	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		323			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.968C>G	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	5.279	0.236945	0.10023	.	.	ENSG00000127995	ENST00000297273	T	0.44482	0.92	5.27	4.39	0.52855	.	0.103913	0.64402	N	0.000002	T	0.17152	0.0412	N	0.01352	-0.895	0.40939	D	0.984456	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.35599	-0.9782	10	0.02654	T	1	.	19.1527	0.93495	0.0:0.8832:0.1168:0.0	.	323;323	Q8WZ77;Q96PB1	.;CASD1_HUMAN	C	323	ENSP00000297273:S323C	ENSP00000297273:S323C	S	+	2	0	CASD1	94004844	1.000000	0.71417	0.978000	0.43139	0.182000	0.23217	4.520000	0.60524	0.729000	0.32403	-1.273000	0.01405	TCT		0.358	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1		NM_022900		27	92	0	0	0	0.003954	0	27	92		
TRRAP	8295	broad.mit.edu	37	7	98548583	98548583	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98548583G>C	ENST00000359863.4	+	38	5607	c.5398G>C	c.(5398-5400)Gaa>Caa	p.E1800Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1782Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1781Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1800					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAATCCAGAAGGAGATAA	0.448																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(5398-5400)GAA>CAA		transformation/transcription domain-associated							234.0	221.0	226.0					7																	98548583		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98548583G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5398G>C	7.37:g.98548583G>C	ENSP00000352925:p.Glu1800Gln					TRRAP_uc011kis.1_Missense_Mutation_p.E1782Q|TRRAP_uc003upr.2_Missense_Mutation_p.E1499Q	p.E1800Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		38	5607	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1800					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5398G>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922130|4.922130	0.92319|0.92319	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.01|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67382|0.67382	0.2887|0.2887	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;P;D|.	0.71674|.	0.998;0.86;0.974|.	P;B;P|.	0.56865|.	0.808;0.377;0.63|.	T|T	0.61845|0.61845	-0.6979|-0.6979	10|5	0.33141|.	T|.	0.24|.	.|.	19.6023|19.6023	0.95568|0.95568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1782;1521;1800|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|H	1800;1782;1780|1521	ENSP00000352925:E1800Q;ENSP00000347733:E1782Q|.	ENSP00000347733:E1782Q|.	E|Q	+|+	1|3	0|2	TRRAP|TRRAP	98386519|98386519	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	9.771000|9.771000	0.98977|0.98977	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	GAA|CAG		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		69	238	0	0	0	0.00361	0	69	238		
SMURF1	57154	broad.mit.edu	37	7	98649052	98649052	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:98649052G>C	ENST00000361125.1	-	8	1053	c.734C>G	c.(733-735)aCa>aGa	p.T245R	SMURF1_ENST00000361368.2_Missense_Mutation_p.T245R|SMURF1_ENST00000480055.1_5'Flank	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	245	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCTGGACTGTTGTTCTTTG	0.473																																						uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(733-735)ACA>AGA		Smad ubiquitination regulatory factor 1 isoform							160.0	141.0	148.0					7																	98649052		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98649052G>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.734C>G	7.37:g.98649052G>C	ENSP00000354621:p.Thr245Arg					SMURF1_uc003upv.1_Missense_Mutation_p.T245R|SMURF1_uc003upt.2_Missense_Mutation_p.T245R	p.T245R	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		8	1054	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		245			WW 1.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.734C>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891675	0.91889	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	D;D	0.83914	-1.78;-1.78	5.13	5.13	0.70059	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	H	0.94503	3.545	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.635	D;D;P	0.77004	0.97;0.989;0.461	D	0.95225	0.8337	10	0.72032	D	0.01	.	18.9489	0.92635	0.0:0.0:1.0:0.0	.	245;245;245	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	R	245	ENSP00000355326:T245R;ENSP00000354621:T245R	ENSP00000354621:T245R	T	-	2	0	SMURF1	98486988	1.000000	0.71417	0.970000	0.41538	0.950000	0.60333	9.813000	0.99286	2.550000	0.86006	0.655000	0.94253	ACA		0.473	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		48	96	0	0	0	0.00361	0	48	96		
NYAP1	222950	broad.mit.edu	37	7	100087045	100087045	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100087045C>G	ENST00000300179.2	+	4	1860	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	NYAP1_ENST00000423930.1_Silent_p.L567L|NYAP1_ENST00000454988.1_Silent_p.L510L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	567					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ATGAGAGCCTCAAGGCTGGGG	0.647																																						uc003uvd.1		NaN																	0				skin(1)	1						c.(1699-1701)CTC>CTG		hypothetical protein FLJ37538							22.0	26.0	25.0					7																	100087045		2166	4240	6406	SO:0001819	synonymous_variant	222950							g.chr7:100087045C>G	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1701C>G	7.37:g.100087045C>G						C7orf51_uc003uve.1_Silent_p.L349L	p.L567L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	1860	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		567					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.1701C>G	CCDS5696.1																																																																																				0.647	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564		18	42	0	0	0	0.006122	0	18	42		
GIGYF1	64599	broad.mit.edu	37	7	100283618	100283618	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283618C>G	ENST00000275732.5	-	9	2242	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	345					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCCTCCTCTAGCCCTTCG	0.687																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1033-1035)GAG>CAG		PERQ amino acid rich, with GYF domain 1							32.0	31.0	31.0					7																	100283618		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100283618C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1033G>C	7.37:g.100283618C>G	ENSP00000275732:p.Glu345Gln						p.E345Q	NM_022574	NP_072096	O75420	PERQ1_HUMAN			9	2042	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		345					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1033G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452979	0.26161	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83250	-1.7	5.28	4.33	0.51752	.	0.922252	0.09298	N	0.821365	T	0.67258	0.2874	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.20184	0.028	T	0.50423	-0.8830	10	0.16896	T	0.51	-3.4683	10.6834	0.45828	0.0:0.9009:0.0:0.0991	.	345	O75420	PERQ1_HUMAN	Q	64;345	ENSP00000275732:E345Q	ENSP00000275732:E345Q	E	-	1	0	GIGYF1	100121554	0.459000	0.25768	0.156000	0.22583	0.007000	0.05969	1.647000	0.37260	2.746000	0.94184	0.655000	0.94253	GAG		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		12	32	0	0	0	0.001855	0	12	32		
GIGYF1	64599	broad.mit.edu	37	7	100283898	100283898	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100283898C>G	ENST00000275732.5	-	8	2062	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	285					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGTCCTCCTCAAAGCCTTCA	0.607																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(853-855)GAG>CAG		PERQ amino acid rich, with GYF domain 1							72.0	81.0	78.0					7																	100283898		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100283898C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.853G>C	7.37:g.100283898C>G	ENSP00000275732:p.Glu285Gln						p.E285Q	NM_022574	NP_072096	O75420	PERQ1_HUMAN			8	1862	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		285					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.853G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	12.77	2.036929	0.35893	.	.	ENSG00000146830	ENST00000275732	D	0.84070	-1.8	4.94	4.05	0.47172	.	0.393430	0.27941	N	0.017238	T	0.75102	0.3804	L	0.32530	0.975	0.50171	D	0.999858	B	0.21606	0.058	B	0.30251	0.113	T	0.67393	-0.5682	10	0.17369	T	0.5	-1.3133	13.0649	0.59028	0.0:0.8373:0.1627:0.0	.	285	O75420	PERQ1_HUMAN	Q	285	ENSP00000275732:E285Q	ENSP00000275732:E285Q	E	-	1	0	GIGYF1	100121834	1.000000	0.71417	0.798000	0.32154	0.004000	0.04260	7.619000	0.83057	1.289000	0.44618	-0.305000	0.09177	GAG		0.607	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		27	101	0	0	0	0.001786	0	27	101		
GIGYF1	64599	broad.mit.edu	37	7	100284421	100284421	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:100284421C>G	ENST00000275732.5	-	7	1754	c.545G>C	c.(544-546)gGa>gCa	p.G182A	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	182					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCAGCCCCTCCCTCCTCAAA	0.642																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(544-546)GGA>GCA		PERQ amino acid rich, with GYF domain 1							40.0	41.0	41.0					7																	100284421		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100284421C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.545G>C	7.37:g.100284421C>G	ENSP00000275732:p.Gly182Ala						p.G182A	NM_022574	NP_072096	O75420	PERQ1_HUMAN			7	1554	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		182					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.545G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.003169	0.54254	.	.	ENSG00000146830	ENST00000275732	D	0.83837	-1.77	4.96	4.96	0.65561	.	0.415179	0.24294	N	0.039797	T	0.81536	0.4843	M	0.74258	2.255	0.38222	D	0.94077	B	0.02656	0.0	B	0.04013	0.001	T	0.80115	-0.1517	10	0.49607	T	0.09	-6.3913	11.4216	0.49985	0.0:0.8179:0.1821:0.0	.	182	O75420	PERQ1_HUMAN	A	182	ENSP00000275732:G182A	ENSP00000275732:G182A	G	-	2	0	GIGYF1	100122357	0.974000	0.33945	1.000000	0.80357	0.992000	0.81027	2.968000	0.49224	2.571000	0.86741	0.563000	0.77884	GGA		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		17	51	0	0	0	0.007413	0	17	51		
PRKAR2B	5577	broad.mit.edu	37	7	106797459	106797459	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:106797459G>C	ENST00000265717.4	+	9	1208	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	317					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTTCATTGTAGAATCTGGAGA	0.343																																						uc003vdx.2		NaN																	0				ovary(1)	1						c.(949-951)GAA>CAA		cAMP-dependent protein kinase, regulatory							105.0	116.0	112.0					7																	106797459		2203	4300	6503	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106797459G>C		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.949G>C	7.37:g.106797459G>C	ENSP00000265717:p.Glu317Gln						p.E317Q	NM_002736	NP_002727	P31323	KAP3_HUMAN			9	1124	+			317			cAMP 2.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.949G>C	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330792	0.95733	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.92397	-3.03	5.97	5.97	0.96955	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95613	0.8674	10	0.72032	D	0.01	-31.1041	20.4238	0.99064	0.0:0.0:1.0:0.0	.	317	P31323	KAP3_HUMAN	Q	317;317;304	ENSP00000265717:E317Q	ENSP00000265717:E317Q	E	+	1	0	PRKAR2B	106584695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.775000	0.98995	2.828000	0.97474	0.655000	0.94253	GAA		0.343	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1				44	136	0	0	0	0.00361	0	44	136		
GPR22	2845	broad.mit.edu	37	7	107115258	107115258	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107115258G>A	ENST00000304402.4	+	3	2096	c.753G>A	c.(751-753)aaG>aaA	p.K251K	COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	251					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CAGGGCAGAAGAAGAAAGCAA	0.363																																						uc003vef.2		NaN																	0				ovary(2)	2						c.(751-753)AAG>AAA		G protein-coupled receptor 22							86.0	78.0	81.0					7																	107115258		2203	4298	6501	SO:0001819	synonymous_variant	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115258G>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.753G>A	7.37:g.107115258G>A						COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.K251K	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2099	+			251			Cytoplasmic (Potential).		O14554	Silent	SNP	ENST00000304402.4	37	c.753G>A	CCDS5744.1																																																																																				0.363	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1				8	23	0	0	0	0.004482	0	8	23		
SLC26A3	1811	broad.mit.edu	37	7	107430026	107430026	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:107430026G>C	ENST00000340010.5	-	6	862	c.678C>G	c.(676-678)ctC>ctG	p.L226L	SLC26A3_ENST00000422236.2_Silent_p.L191L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	226					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAATGAATTTGAGTTGGGAAA	0.388																																						uc003ver.2		NaN																	0				ovary(3)|skin(1)	4						c.(676-678)CTC>CTG		solute carrier family 26, member 3							68.0	62.0	64.0					7																	107430026		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107430026G>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.678C>G	7.37:g.107430026G>C						SLC26A3_uc003ves.2_Silent_p.L191L	p.L226L	NM_000111	NP_000102	P40879	S26A3_HUMAN			6	889	-			226						Silent	SNP	ENST00000340010.5	37	c.678C>G	CCDS5748.1																																																																																				0.388	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1		NM_000111		3	34	0	0	0	0.000248	0	3	34		
FOXP2	93986	broad.mit.edu	37	7	114282626	114282626	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:114282626C>T	ENST00000393494.2	+	7	1216	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	FOXP2_ENST00000393500.3_Missense_Mutation_p.H238Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.H292Y|FOXP2_ENST00000393489.3_Missense_Mutation_p.H221Y|FOXP2_ENST00000360232.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.H313Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.H313Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.H330Y|FOXP2_ENST00000408937.3_Missense_Mutation_p.H338Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.H337Y			O15409	FOXP2_HUMAN	forkhead box P2	313					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACCAATAACTCATCATTCCAT	0.393																																						uc003vhb.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(937-939)CAT>TAT		forkhead box P2 isoform I							202.0	172.0	182.0					7																	114282626		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282626C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.937C>T	7.37:g.114282626C>T	ENSP00000377132:p.His313Tyr					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.H338Y|FOXP2_uc003vha.2_Missense_Mutation_p.H221Y|FOXP2_uc011kmu.1_Missense_Mutation_p.H330Y|FOXP2_uc011kmv.1_Missense_Mutation_p.H312Y|FOXP2_uc010ljz.1_Missense_Mutation_p.H221Y|FOXP2_uc003vgx.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhd.2_Missense_Mutation_p.H313Y|FOXP2_uc003vhc.2_Missense_Mutation_p.H338Y	p.H313Y	NM_014491	NP_055306	O15409	FOXP2_HUMAN			7	1311	+			313					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.937C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771740	0.69992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.19394	2.18;2.18;2.18;2.18;2.18;2.15;2.18;2.18;2.18;2.18	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	L	0.52573	1.65	0.80722	D	1	P;P;P;P;P;P;P	0.48294	0.851;0.851;0.851;0.908;0.908;0.851;0.908	P;P;P;P;P;P;P	0.61397	0.775;0.775;0.775;0.888;0.888;0.775;0.888	T	0.15925	-1.0420	10	0.62326	D	0.03	.	18.6991	0.91614	0.0:1.0:0.0:0.0	.	312;330;221;313;337;313;338	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	Y	238;313;338;330;313;290;313;221;313;170;337;221	ENSP00000377137:H238Y;ENSP00000377132:H313Y;ENSP00000386200:H338Y;ENSP00000385069:H330Y;ENSP00000265436:H313Y;ENSP00000367482:H313Y;ENSP00000377129:H221Y;ENSP00000353367:H313Y;ENSP00000375084:H337Y;ENSP00000377130:H221Y	ENSP00000265436:H313Y	H	+	1	0	FOXP2	114069862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.442000	0.80503	2.487000	0.83934	0.460000	0.39030	CAT		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491		20	61	0	0	0	0.002299	0	20	61		
PTPRZ1	5803	broad.mit.edu	37	7	121652699	121652699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121652699C>T	ENST00000393386.2	+	12	4010	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1200					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTCTTCCAGCTGTGCCC	0.378																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3598-3600)CCA>CTA		protein tyrosine phosphatase, receptor-type,							187.0	187.0	187.0					7																	121652699		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652699C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3599C>T	7.37:g.121652699C>T	ENSP00000377047:p.Pro1200Leu					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.P1200L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3994	+			1200			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3599C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206134	0.39003	.	.	ENSG00000106278	ENST00000393386	T	0.44482	0.92	5.51	5.51	0.81932	.	0.336949	0.26331	N	0.024986	T	0.38427	0.1040	M	0.63428	1.95	0.80722	D	1	P	0.35433	0.501	B	0.25140	0.058	T	0.37842	-0.9688	10	0.56958	D	0.05	.	13.672	0.62432	0.0:0.9259:0.0:0.0741	.	1200	P23471	PTPRZ_HUMAN	L	1200	ENSP00000377047:P1200L	ENSP00000377047:P1200L	P	+	2	0	PTPRZ1	121439935	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	3.468000	0.53086	2.573000	0.86826	0.555000	0.69702	CCA		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		50	161	0	0	0	0.00361	0	50	161		
FEZF1	389549	broad.mit.edu	37	7	121943827	121943827	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:121943827G>C	ENST00000442488.2	-	1	732	c.665C>G	c.(664-666)tCc>tGc	p.S222C	FEZF1_ENST00000331178.4_Missense_Mutation_p.S222C|FEZF1_ENST00000427185.2_Missense_Mutation_p.S172C|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	222					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTGAGCCTGGGACAGGTCTTT	0.512																																						uc003vkd.2		NaN																	0				ovary(2)|breast(1)	3						c.(664-666)TCC>TGC		FEZ family zinc finger 1 isoform 1							71.0	77.0	75.0					7																	121943827		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943827G>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.665C>G	7.37:g.121943827G>C	ENSP00000411145:p.Ser222Cys					FEZF1_uc003vkc.2_Missense_Mutation_p.S172C|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.S222C	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	739	-			222					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.665C>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756575	0.49362	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08008	3.14;3.27;3.19	5.24	5.24	0.73138	.	0.251040	0.40728	N	0.001025	T	0.15869	0.0382	N	0.24115	0.695	0.41508	D	0.988321	D;D	0.69078	0.994;0.997	P;P	0.60473	0.753;0.875	T	0.06180	-1.0841	10	0.35671	T	0.21	-30.0125	19.1835	0.93632	0.0:0.0:1.0:0.0	.	222;172	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	C	222;222;172	ENSP00000411145:S222C;ENSP00000332777:S222C;ENSP00000392727:S172C	ENSP00000332777:S222C	S	-	2	0	FEZF1	121731063	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.001000	0.70685	2.595000	0.87683	0.555000	0.69702	TCC		0.512	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1		NM_001024613		27	87	0	0	0	0.005443	0	27	87		
GPR37	2861	broad.mit.edu	37	7	124386968	124386968	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:124386968G>T	ENST00000303921.2	-	2	2103	c.1453C>A	c.(1453-1455)Caa>Aaa	p.Q485K		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	485					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTCTAGTTGAATCTGCCGT	0.433																																						uc003vli.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1453-1455)CAA>AAA		G protein-coupled receptor 37 precursor							106.0	102.0	103.0					7																	124386968		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386968G>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1453C>A	7.37:g.124386968G>T	ENSP00000306449:p.Gln485Lys						p.Q485K	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2104	-			485			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1453C>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854496	0.32791	.	.	ENSG00000170775	ENST00000303921	T	0.26067	1.76	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.098210	0.43747	D	0.000534	T	0.28234	0.0697	L	0.52573	1.65	0.43936	D	0.996592	B	0.28258	0.205	B	0.33121	0.158	T	0.05649	-1.0872	10	0.11794	T	0.64	-11.675	18.635	0.91374	0.0:0.0:1.0:0.0	.	485	O15354	GPR37_HUMAN	K	485	ENSP00000306449:Q485K	ENSP00000306449:Q485K	Q	-	1	0	GPR37	124174204	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	9.869000	0.99810	2.639000	0.89480	0.655000	0.94253	CAA		0.433	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1		NM_005302		26	102	1	0	2.48779e-11	0.005443	3.09898e-11	26	102		
METTL2B	55798	broad.mit.edu	37	7	128119545	128119545	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:128119545C>T	ENST00000262432.8	+	3	573	c.536C>T	c.(535-537)tCa>tTa	p.S179L	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000473488.1_3'UTR|METTL2B_ENST00000480046.1_Missense_Mutation_p.S114L	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	179					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGGATCCTCAGCCACCTAC	0.428																																						uc003vnf.2		NaN																	0				skin(1)	1						c.(535-537)TCA>TTA		methyltransferase like 2B							73.0	84.0	80.0					7																	128119545		2198	4296	6494	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119545C>T	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.536C>T	7.37:g.128119545C>T	ENSP00000262432:p.Ser179Leu					METTL2B_uc003vng.2_Missense_Mutation_p.S114L|METTL2B_uc011kop.1_Missense_Mutation_p.S43L	p.S179L	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			3	573	+			179					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.536C>T	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999020	0.35226	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03496	3.91;3.91;3.91	2.65	2.65	0.31530	.	0.167364	0.53938	N	0.000041	T	0.06188	0.0160	M	0.66939	2.045	0.44323	D	0.997205	B;B	0.21381	0.004;0.055	B;B	0.25759	0.015;0.063	T	0.15321	-1.0441	10	0.54805	T	0.06	-11.4039	11.0978	0.48155	0.0:1.0:0.0:0.0	.	114;179	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	L	173;179;114	ENSP00000418634:S173L;ENSP00000262432:S179L;ENSP00000418402:S114L	ENSP00000262432:S179L	S	+	2	0	METTL2B	127906781	1.000000	0.71417	0.996000	0.52242	0.113000	0.19764	3.546000	0.53656	1.492000	0.48499	0.405000	0.27470	TCA		0.428	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1		NM_018396		22	81	0	0	0	0.00278	0	22	81		
ATP6V0A4	50617	broad.mit.edu	37	7	138447178	138447178	+	Splice_Site	SNP	G	G	A	rs144802156	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:138447178G>A	ENST00000310018.2	-	7	701	c.419C>T	c.(418-420)aCg>aTg	p.T140M	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Splice_Site_p.T140M|ATP6V0A4_ENST00000353492.4_Splice_Site_p.T140M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	140					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATTGGTTTCCGTCTGAAAGTC	0.393													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19309	0.0		0.0	False		,,,				2504	0.0					uc003vuf.2		NaN																	0				pancreas(1)	1						c.(418-420)ACG>ATG		ATPase, H+ transporting, lysosomal V0 subunit		G	MET/THR,MET/THR,MET/THR	13,4393	21.2+/-45.6	0,13,2190	94.0	87.0	89.0		419,419,419	5.3	1.0	7	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	81,81,81	0,14,6489	AA,AG,GG		0.0116,0.2951,0.1076	possibly-damaging,possibly-damaging,possibly-damaging	140/841,140/841,140/841	138447178	14,12992	2203	4300	6503	SO:0001630	splice_region_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138447178G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.418-1C>T	7.37:g.138447178G>A						ATP6V0A4_uc003vug.2_Missense_Mutation_p.T140M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.T140M	p.T140M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			6	657	-			140			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.419C>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964806	0.74131	0.002951	1.16E-4	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85955	-2.05;-2.05;-2.05	6.17	5.28	0.74379	.	0.577321	0.18640	N	0.135317	D	0.86619	0.5976	L	0.44542	1.39	0.33759	D	0.621556	D	0.54601	0.967	P	0.52957	0.714	D	0.90536	0.4499	10	0.59425	D	0.04	-8.0755	15.849	0.78912	0.0:0.0:0.8634:0.1366	.	140	Q9HBG4	VPP4_HUMAN	M	140	ENSP00000308122:T140M;ENSP00000376774:T140M;ENSP00000253856:T140M	ENSP00000308122:T140M	T	-	2	0	ATP6V0A4	138097718	0.999000	0.42202	0.992000	0.48379	0.978000	0.69477	3.393000	0.52544	1.582000	0.49881	0.655000	0.94253	ACG		0.393	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1		NM_020632	Missense_Mutation	15	43	0	0	0	0.003163	0	15	43		
TRPV6	55503	broad.mit.edu	37	7	142571845	142571845	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:142571845G>A	ENST00000359396.3	-	12	1748	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	501					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAAAGCCCAGGATGACCACAG	0.537																																						uc003wbx.1		NaN																	0				ovary(2)	2						c.(1501-1503)ATC>ATT		transient receptor potential cation channel,							62.0	50.0	54.0					7																	142571845		2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571845G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1503C>T	7.37:g.142571845G>A						TRPV6_uc003wbw.1_Silent_p.I287I|TRPV6_uc010lou.1_Silent_p.I372I	p.I501I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			12	1719	-	Melanoma(164;0.059)		501			Helical; (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.1503C>T	CCDS5874.1																																																																																				0.537	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1		NM_014274		6	24	0	0	0	0.004482	0	6	24		
ZBED6CL	113763	broad.mit.edu	37	7	150028006	150028006	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150028006G>A	ENST00000343855.4	+	1	1069	c.513G>A	c.(511-513)gaG>gaA	p.E171E	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	171																	GCTTGCTGGAGAGCATGGGGC	0.632																																						uc003wgy.2		NaN																	0				ovary(1)	1						c.(511-513)GAG>GAA		hypothetical protein LOC113763							20.0	22.0	21.0					7																	150028006		2203	4300	6503	SO:0001819	synonymous_variant	113763							g.chr7:150028006G>A	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.513G>A	7.37:g.150028006G>A						LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron	p.E171E	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		1	1069	+			171						Silent	SNP	ENST00000343855.4	37	c.513G>A	CCDS5900.1																																																																																				0.632	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1		NM_138434		5	27	0	0	0	0.000602	0	5	27		
ABCB8	11194	broad.mit.edu	37	7	150732745	150732745	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150732745G>A	ENST00000297504.6	+	7	960	c.894G>A	c.(892-894)ctG>ctA	p.L298L	ABCB8_ENST00000477092.1_Silent_p.L281L|ABCB8_ENST00000477719.1_Silent_p.L281L|ABCB8_ENST00000542328.1_Silent_p.L193L|ABCB8_ENST00000358849.4_Silent_p.L281L|ABCB8_ENST00000498578.1_Silent_p.L281L|ABCB8_ENST00000356058.4_Silent_p.L318L			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	298	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CGCTGCTGCTGATGGTGGCCA	0.652																																						uc003wil.3		NaN																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(892-894)CTG>CTA		ATP-binding cassette, sub-family B, member 8							90.0	74.0	79.0					7																	150732745		2203	4300	6503	SO:0001819	synonymous_variant	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150732745G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.894G>A	7.37:g.150732745G>A						ABCB8_uc003wii.2_Silent_p.L318L|ABCB8_uc003wij.3_Silent_p.L281L|ABCB8_uc010lpw.1_Silent_p.L100L|ABCB8_uc010lpx.2_Silent_p.L281L|ABCB8_uc011kvd.1_Silent_p.L193L|ABCB8_uc003wim.3_Silent_p.L76L|ABCB8_uc003wik.3_Silent_p.L281L	p.L298L	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	987	+			298			ABC transmembrane type-1.|Helical; (Potential).		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	ENST00000297504.6	37	c.894G>A		.	.	.	.	.	.	.	.	.	.	G	9.086	1.000478	0.19121	.	.	ENSG00000197150	ENST00000491920	.	.	.	4.79	2.94	0.34122	.	.	.	.	.	T	0.53206	0.1782	.	.	.	0.51012	D	0.999901	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-0.4733	4.8298	0.13434	0.1931:0.1794:0.6275:0.0	.	.	.	.	N	14	.	.	D	+	1	0	ABCB8	150363678	0.862000	0.29867	0.353000	0.25747	0.982000	0.71751	0.255000	0.18333	0.420000	0.25954	0.561000	0.74099	GAT		0.652	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2		NM_007188		35	76	0	0	0	0.002836	0	35	76		
GBX1	2636	broad.mit.edu	37	7	150864185	150864185	+	Missense_Mutation	SNP	C	C	T	rs200545413		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:150864185C>T	ENST00000297537.4	-	1	450	c.451G>A	c.(451-453)Gat>Aat	p.D151N	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	151	Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCATCAGCTTCCAGC	0.711													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11717	0.0		0.0	False		,,,				2504	0.0					uc011kvg.1		NaN																	0					0						c.(451-453)GAT>AAT		gastrulation brain homeo box 1		C	ASN/ASP	6,3738		0,6,1866	20.0	25.0	24.0		451	3.9	0.4	7		24	0,8194		0,0,4097	yes	missense	GBX1	NM_001098834.1	23	0,6,5963	TT,TC,CC		0.0,0.1603,0.0503	probably-damaging	151/364	150864185	6,11932	1872	4097	5969	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150864185C>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.451G>A	7.37:g.150864185C>T	ENSP00000297537:p.Asp151Asn						p.D151N	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	683	-			151			Pro-rich.			Missense_Mutation	SNP	ENST00000297537.4	37	c.451G>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132982	0.37630	0.001603	0.0	ENSG00000164900	ENST00000297537	D	0.91237	-2.81	3.93	3.93	0.45458	.	1.038090	0.07723	U	0.944009	T	0.80894	0.4711	N	0.08118	0	0.80722	D	1	B	0.23316	0.083	B	0.22753	0.041	T	0.66763	-0.5841	10	0.15499	T	0.54	-13.7971	11.328	0.49460	0.0:1.0:0.0:0.0	.	151	Q14549	GBX1_HUMAN	N	151	ENSP00000297537:D151N	ENSP00000297537:D151N	D	-	1	0	GBX1	150495118	0.996000	0.38824	0.355000	0.25773	0.748000	0.42578	4.019000	0.57181	2.027000	0.59764	0.478000	0.44815	GAT		0.711	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1				26	75	0	0	0	0.00632	0	26	75		
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:157387990C>A	ENST00000389418.4	-	17	2445	c.2436G>T	c.(2434-2436)agG>agT	p.R812S	PTPRN2_ENST00000389413.3_Missense_Mutation_p.R783S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R795S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R774S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R835S	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	812	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R812R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532																																						uc003wno.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2434-2436)AGG>AGT		protein tyrosine phosphatase, receptor type, N							59.0	65.0	63.0					7																	157387990		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157387990C>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2436G>T	7.37:g.157387990C>A	ENSP00000374069:p.Arg812Ser					PTPRN2_uc003wnp.2_Missense_Mutation_p.R795S|PTPRN2_uc003wnq.2_Missense_Mutation_p.R783S|PTPRN2_uc003wnr.2_Missense_Mutation_p.R774S|PTPRN2_uc011kwa.1_Missense_Mutation_p.R835S	p.R812S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2557	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	812			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2436G>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080757	0.55753	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.51	3.35	0.38373	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.66297	2.02	0.52501	D	0.999952	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.77004	0.961;0.989;0.961;0.953;0.985	D	0.87769	0.2604	10	0.87932	D	0	.	8.5202	0.33270	0.0:0.6744:0.0:0.3256	.	835;774;783;795;812	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	S	774;783;795;812;835	ENSP00000387114:R774S;ENSP00000374064:R783S;ENSP00000374067:R795S;ENSP00000374069:R812S;ENSP00000385464:R835S	ENSP00000374064:R783S	R	-	3	2	PTPRN2	157080751	1.000000	0.71417	0.806000	0.32338	0.374000	0.29953	1.375000	0.34295	1.302000	0.44855	0.655000	0.94253	AGG		0.532	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1				24	72	1	0	4.7796e-09	0.004656	5.85258e-09	24	72		
NCAPG2	54892	broad.mit.edu	37	7	158437065	158437065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr7:158437065G>C	ENST00000409423.1	-	28	3468	c.3296C>G	c.(3295-3297)tCa>tGa	p.S1099*	NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000275830.10_Nonsense_Mutation_p.S844*|NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.S1099*|NCAPG2_ENST00000541468.1_Nonsense_Mutation_p.S553*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1099					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCACTTTTGAGCTTTTATG	0.358																																						uc003wnv.1		NaN																	0				ovary(1)|breast(1)|kidney(1)	3						c.(3295-3297)TCA>TGA		leucine zipper protein 5							170.0	159.0	163.0					7																	158437065		1848	4081	5929	SO:0001587	stop_gained	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158437065G>C	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.3296C>G	7.37:g.158437065G>C	ENSP00000386569:p.Ser1099*					NCAPG2_uc010lqu.1_Nonsense_Mutation_p.S844*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.S1099*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.S553*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.S542*	p.S1099*	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	27	3441	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	1099					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	ENST00000409423.1	37	c.3296C>G	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.159069|6.159069	0.97334|0.97334	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000441982|ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	.|.	.|.	.|.	5.55|5.55	3.67|3.67	0.42095|0.42095	.|.	.|0.420137	.|0.26187	.|N	.|0.025830	T|.	0.49406|.	0.1555|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59354|.	-0.7470|.	3|.	.|0.32370	.|T	.|0.25	-5.5598|-5.5598	7.9974|7.9974	0.30275|0.30275	0.0862:0.1633:0.7505:0.0|0.0862:0.1633:0.7505:0.0	.|.	.|.	.|.	.|.	E|X	854|553;1099;1099;844;1099;542;1099	.|.	.|ENSP00000275830:S844X	Q|S	-|-	1|2	0|0	NCAPG2|NCAPG2	158129826|158129826	0.070000|0.070000	0.21116|0.21116	0.636000|0.636000	0.29352|0.29352	0.577000|0.577000	0.36160|0.36160	1.324000|1.324000	0.33712|0.33712	1.273000|1.273000	0.44346|0.44346	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.358	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1		NM_017760		21	145	0	0	0	0.002299	0	21	145		
FGL1	2267	broad.mit.edu	37	8	17739572	17739572	+	Silent	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:17739572G>C	ENST00000398056.2	-	5	995	c.180C>G	c.(178-180)gtC>gtG	p.V60V	FGL1_ENST00000518650.1_Silent_p.V60V|FGL1_ENST00000398054.1_Silent_p.V60V|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000381840.2_Silent_p.V60V|FGL1_ENST00000381841.2_Silent_p.V60V|FGL1_ENST00000427924.1_Silent_p.V60V|FGL1_ENST00000522444.1_Silent_p.V60V			Q08830	FGL1_HUMAN	fibrinogen-like 1	60					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGGAACTGGACTTCATTCT	0.478																																						uc003wxx.2		NaN																	0					0						c.(178-180)GTC>GTG		fibrinogen-like 1 precursor							127.0	117.0	120.0					8																	17739572		2203	4300	6503	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17739572G>C	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.180C>G	8.37:g.17739572G>C						FGL1_uc003wxy.2_Silent_p.V60V|FGL1_uc003wxz.2_Silent_p.V60V|FGL1_uc003wya.2_Silent_p.V60V|FGL1_uc003wyb.2_Silent_p.V60V|FGL1_uc003wyc.2_Silent_p.V60V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V110V|FGL1_uc003wyf.2_Silent_p.V30V	p.V60V	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	4	504	-			60			Potential.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.180C>G	CCDS6004.1																																																																																				0.478	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1		NM_004467		36	83	0	0	0	0.002836	0	36	83		
LGI3	203190	broad.mit.edu	37	8	22011497	22011497	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22011497C>G	ENST00000306317.2	-	5	767	c.478G>C	c.(478-480)Gac>Cac	p.D160H	LGI3_ENST00000424267.2_Missense_Mutation_p.D136H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	160					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTCAGGATGTCCAGGGGCCGG	0.572																																						uc003xav.2		NaN																	0				ovary(1)	1						c.(478-480)GAC>CAC		leucine-rich repeat LGI family, member 3							102.0	101.0	101.0					8																	22011497		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22011497C>G	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.478G>C	8.37:g.22011497C>G	ENSP00000302297:p.Asp160His					LGI3_uc010ltu.2_Missense_Mutation_p.D136H	p.D160H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	5	767	-			160					A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.478G>C	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239260	0.79800	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	D;T;T	0.90069	-2.61;0.42;0.42	4.82	4.82	0.62117	.	0.058554	0.64402	D	0.000004	D	0.87537	0.6202	N	0.04994	-0.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	D	0.90645	0.4578	10	0.87932	D	0	-33.5945	15.4608	0.75356	0.0:1.0:0.0:0.0	.	136;160	A5PLP2;Q8N145	.;LGI3_HUMAN	H	160;136;121	ENSP00000302297:D160H;ENSP00000399121:D136H;ENSP00000427817:D121H	ENSP00000302297:D160H	D	-	1	0	LGI3	22067442	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.246000	0.78247	2.473000	0.83533	0.655000	0.94253	GAC		0.572	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1				12	81	0	0	0	0.003163	0	12	81		
C8orf58	541565	broad.mit.edu	37	8	22459311	22459311	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:22459311G>C	ENST00000289989.5	+	3	677	c.603G>C	c.(601-603)caG>caC	p.Q201H	C8orf58_ENST00000409586.3_Missense_Mutation_p.Q201H|CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000308511.4_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	201										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCTGGAGCAGATGGCAAGGC	0.662																																						uc003xce.2		NaN																	0				skin(1)	1						c.(601-603)CAG>CAC		hypothetical protein LOC541565							56.0	66.0	63.0					8																	22459311		2203	4300	6503	SO:0001583	missense	541565							g.chr8:22459311G>C	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.603G>C	8.37:g.22459311G>C	ENSP00000289989:p.Gln201His					C8orf58_uc011kzl.1_Missense_Mutation_p.Q201H|C8orf58_uc003xcf.2_Missense_Mutation_p.Q201H|KIAA1967_uc003xch.2_5'Flank	p.Q201H	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	3	715	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	201					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.603G>C	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	16.64	3.179434	0.57800	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	4.56	1.13	0.20643	.	0.405709	0.18538	N	0.138298	T	0.54983	0.1892	M	0.68317	2.08	0.27731	N	0.944819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.44375	-0.9332	9	0.87932	D	0	-11.2629	5.1104	0.14806	0.2274:0.1779:0.5947:0.0	.	201;129;201	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	H	270;201;201;129	.	ENSP00000399696:Q270H	Q	+	3	2	AC037459.4;C8orf58	22515256	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	1.329000	0.33770	0.339000	0.23719	0.306000	0.20318	CAG		0.662	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1		NM_001013842		41	98	0	0	0	0.002222	0	41	98		
CDCA2	157313	broad.mit.edu	37	8	25343351	25343351	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:25343351C>T	ENST00000330560.3	+	11	1919	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S466L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	481					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGACCCTTTCAGGTAGTAAC	0.279																																						uc003xep.1		NaN																	0					0						c.(1441-1443)TCA>TTA		cell division cycle associated 2							64.0	59.0	61.0					8																	25343351		2202	4297	6499	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25343351C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1442C>T	8.37:g.25343351C>T	ENSP00000328228:p.Ser481Leu					PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S481L|CDCA2_uc003xeq.1_Missense_Mutation_p.S466L|CDCA2_uc003xer.1_Missense_Mutation_p.S144L	p.S481L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	11	1921	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	481					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1442C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948100	0.73787	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.35048	1.33;1.33	5.92	4.97	0.65823	.	0.665110	0.13749	N	0.365426	T	0.45756	0.1358	L	0.59436	1.845	0.80722	D	1	P;P;P	0.51351	0.944;0.933;0.933	P;P;P	0.52957	0.714;0.544;0.544	T	0.13255	-1.0516	10	0.36615	T	0.2	-3.3563	10.6118	0.45425	0.2354:0.7646:0.0:0.0	.	481;466;481	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	L	481;466	ENSP00000328228:S481L;ENSP00000370040:S466L	ENSP00000328228:S481L	S	+	2	0	CDCA2	25399268	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	2.093000	0.41710	2.804000	0.96469	0.655000	0.94253	TCA		0.279	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562		11	30	0	0	0	0.008291	0	11	30		
RAB11FIP1	80223	broad.mit.edu	37	8	37728859	37728859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:37728859G>T	ENST00000330843.4	-	4	3473	c.3461C>A	c.(3460-3462)tCa>tAa	p.S1154*	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1154					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTCCGAGGGTGAGACCCAGGC	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3460-3462)TCA>TAA		RAB11 family interacting protein 1 isoform 3							80.0	85.0	83.0					8																	37728859		2203	4300	6503	SO:0001587	stop_gained	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728859G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3461C>A	8.37:g.37728859G>T	ENSP00000331342:p.Ser1154*		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.S483*|RAB11FIP1_uc003xkp.1_Intron	p.S1154*	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3505	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1154					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	ENST00000330843.4	37	c.3461C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	42	9.777242	0.99261	.	.	ENSG00000156675	ENST00000330843	.	.	.	5.29	5.29	0.74685	.	0.311842	0.23250	N	0.050254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9391	18.9538	0.92650	0.0:0.0:1.0:0.0	.	.	.	.	X	1154	.	ENSP00000331342:S1154X	S	-	2	0	RAB11FIP1	37848017	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.050000	0.89445	2.475000	0.83589	0.555000	0.69702	TCA		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		15	199	1	0	2.62699e-14	0.003163	3.28945e-14	15	199		
IKBKB	3551	broad.mit.edu	37	8	42179979	42179979	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:42179979G>A	ENST00000520810.1	+	19	2139	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q	IKBKB_ENST00000379708.3_Silent_p.Q428Q|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.Q649Q|IKBKB_ENST00000416505.2_Silent_p.Q592Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	651					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGCGGCAGAAGGAGCTCT	0.567																																						uc003xow.1		NaN																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1951-1953)CAG>CAA		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						136.0	141.0	140.0					8																	42179979		2203	4300	6503	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179979G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1953G>A	8.37:g.42179979G>A						IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.Q428Q|IKBKB_uc003xox.1_Silent_p.Q372Q|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.Q649Q|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.Q592Q	p.Q651Q	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		19	2130	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	651					B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.1953G>A	CCDS6128.1																																																																																				0.567	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1				18	121	0	0	0	0.006122	0	18	121		
POTEA	340441	broad.mit.edu	37	8	43197332	43197332	+	RNA	SNP	C	C	G	rs372759275		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:43197332C>G	ENST00000522175.2	+	0	1085							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTTACAGGTCAAAAGCCAAA	0.318																																						uc003xpz.1		NaN																	0				ovary(1)	1						c.(1219-1221)GTC>GTG		POTE ankyrin domain family, member A isoform 2							102.0	98.0	99.0					8																	43197332		1830	4079	5909			340441							g.chr8:43197332C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197332C>G						POTEA_uc003xqa.1_Silent_p.V361V	p.V407V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1264	+			407					A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.1221C>G																																																																																					0.318	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1		NM_001002920		4	44	0	0	0	0.001168	0	4	44		
PRKDC	5591	broad.mit.edu	37	8	48711931	48711931	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48711931C>T	ENST00000314191.2	-	73	10190	c.10134G>A	c.(10132-10134)caG>caA	p.Q3378Q	PRKDC_ENST00000338368.3_Silent_p.Q3378Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3379	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAATGCTCTCTGGTACAGAC	0.552								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10135-10137)CAG>CAA	NHEJ	protein kinase, DNA-activated, catalytic							102.0	101.0	101.0					8																	48711931		2003	4184	6187	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48711931C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10134G>A	8.37:g.48711931C>T						PRKDC_uc003xqj.2_Silent_p.Q3379Q|PRKDC_uc011ldh.1_Intron	p.Q3379Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN			73	10194	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3379			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10137G>A																																																																																					0.552	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		59	93	0	0	0	0.00361	0	59	93		
PRKDC	5591	broad.mit.edu	37	8	48801695	48801695	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:48801695C>A	ENST00000314191.2	-	34	4213	c.4157G>T	c.(4156-4158)gGa>gTa	p.G1386V	PRKDC_ENST00000338368.3_Missense_Mutation_p.G1386V|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1387					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTGGACGTCTCCGATGTTGAA	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4159-4161)GGA>GTA	NHEJ	protein kinase, DNA-activated, catalytic							89.0	89.0	89.0					8																	48801695		1963	4153	6116	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801695C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4157G>T	8.37:g.48801695C>A	ENSP00000313420:p.Gly1386Val					PRKDC_uc003xqj.2_Missense_Mutation_p.G1387V|PRKDC_uc011ldh.1_Intron	p.G1387V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			34	4217	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1387					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4160G>T		.	.	.	.	.	.	.	.	.	.	C	11.09	1.535757	0.27475	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02631	4.29;4.22	5.6	3.71	0.42584	.	0.130014	0.50627	D	0.000111	T	0.06188	0.0160	M	0.62723	1.935	0.58432	D	0.999997	B;P	0.40970	0.44;0.734	B;B	0.42625	0.282;0.393	T	0.22452	-1.0216	10	0.66056	D	0.02	.	14.3301	0.66550	0.0:0.4114:0.5886:0.0	.	1386;1387	E7EUY0;P78527	.;PRKDC_HUMAN	V	1386	ENSP00000313420:G1386V;ENSP00000345182:G1386V	ENSP00000313420:G1386V	G	-	2	0	PRKDC	48964248	1.000000	0.71417	0.034000	0.17996	0.007000	0.05969	5.653000	0.67967	1.298000	0.44778	0.655000	0.94253	GGA		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		18	54	1	0	2.4624e-09	0.008871	3.02032e-09	18	54		
MYBL1	4603	broad.mit.edu	37	8	67507965	67507965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:67507965C>T	ENST00000522677.3	-	6	950	c.540G>A	c.(538-540)tgG>tgA	p.W180*	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Nonsense_Mutation_p.W180*	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	180	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TAGTAGAATTCCAATGATTTT	0.333																																						uc003xwj.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(538-540)TGG>TGA		v-myb myeloblastosis viral oncogene homolog							123.0	106.0	111.0					8																	67507965		1813	4060	5873	SO:0001587	stop_gained	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67507965C>T	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.540G>A	8.37:g.67507965C>T	ENSP00000429633:p.Trp180*					MYBL1_uc003xwl.2_Nonsense_Mutation_p.W180*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.W180*	p.W180*	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		6	947	-			180			HTH myb-type 3.|H-T-H motif (By similarity).		E7EW29|Q495F9	Nonsense_Mutation	SNP	ENST00000522677.3	37	c.540G>A	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	40	8.237105	0.98719	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4819	19.7654	0.96337	0.0:1.0:0.0:0.0	.	.	.	.	X	180	.	ENSP00000429633:W180X	W	-	3	0	MYBL1	67670519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.750000	0.94351	0.655000	0.94253	TGG		0.333	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3		XM_034274		4	6	0	0	0	0.000248	0	4	6		
TRPA1	8989	broad.mit.edu	37	8	72975076	72975076	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:72975076G>C	ENST00000262209.4	-	6	972	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	255					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGCACATTTTGATCATTTCCA	0.388																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(763-765)ATC>ATG		ankyrin-like protein 1	Menthol(DB00825)						150.0	138.0	142.0					8																	72975076		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72975076G>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.765C>G	8.37:g.72975076G>C	ENSP00000262209:p.Ile255Met						p.I255M	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		6	940	-			255			ANK 6.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.765C>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322055	0.60634	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.66460	-0.21;-0.21	5.62	-1.34	0.09143	Ankyrin repeat-containing domain (4);	0.047218	0.85682	D	0.000000	T	0.68016	0.2955	L	0.53617	1.68	0.40622	D	0.981771	D	0.89917	1.0	D	0.79108	0.992	T	0.65471	-0.6160	10	0.54805	T	0.06	-27.2867	1.1071	0.01696	0.4269:0.1078:0.2578:0.2075	.	255	O75762	TRPA1_HUMAN	M	107;255	ENSP00000428151:I107M;ENSP00000262209:I255M	ENSP00000262209:I255M	I	-	3	3	TRPA1	73137630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.844000	0.27654	0.060000	0.16281	-0.145000	0.13849	ATC		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		13	71	0	0	0	0.001855	0	13	71		
LRRCC1	85444	broad.mit.edu	37	8	86022358	86022358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:86022358G>A	ENST00000360375.3	+	3	468	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E87K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	107					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						aGGACTTGAAGAACTAATTAA	0.249																																						uc003ycw.2		NaN																	0					0						c.(319-321)GAA>AAA		sodium channel associated protein 2 isoform a							81.0	73.0	75.0					8																	86022358		1794	4056	5850	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86022358G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.319G>A	8.37:g.86022358G>A	ENSP00000353538:p.Glu107Lys					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.E14K|LRRCC1_uc003ycy.2_Missense_Mutation_p.E87K	p.E107K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			3	473	+			107			LRR 3.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.319G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	1.756	-0.488019	0.04352	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.07216	3.21;3.21	5.62	1.04	0.20106	.	0.623860	0.13315	N	0.397169	T	0.02418	0.0074	N	0.03268	-0.37	0.21184	N	0.999768	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.46261	-0.9204	10	0.05351	T	0.99	-2.9715	3.5871	0.07975	0.4457:0.1937:0.3606:0.0	.	87;14;107	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	K	14;107;87	ENSP00000353538:E107K;ENSP00000394695:E87K	ENSP00000353538:E107K	E	+	1	0	LRRCC1	86209610	1.000000	0.71417	0.999000	0.59377	0.554000	0.35429	1.588000	0.36633	0.726000	0.32339	0.467000	0.42956	GAA		0.249	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402		9	52	0	0	0	0.008291	0	9	52		
RIPK2	8767	broad.mit.edu	37	8	90798902	90798902	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:90798902G>A	ENST00000220751.4	+	9	1425	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	RIPK2_ENST00000540020.1_Missense_Mutation_p.D234N	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	371					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAAGACAATGATTTTTTATC	0.338																																						uc003yee.2		NaN																	0				ovary(2)	2						c.(1111-1113)GAT>AAT		receptor-interacting serine-threonine kinase 2							92.0	93.0	93.0					8																	90798902		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90798902G>A	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1111G>A	8.37:g.90798902G>A	ENSP00000220751:p.Asp371Asn					RIPK2_uc003yef.2_Missense_Mutation_p.D234N	p.D371N	NM_003821	NP_003812	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		9	1425	+			371					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1111G>A	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	0.907	-0.720224	0.03182	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80738	-1.19;-1.41	5.64	-0.536	0.11876	.	1.246790	0.05936	N	0.636120	T	0.55924	0.1951	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40739	-0.9547	10	0.13470	T	0.59	-0.1344	1.2418	0.01964	0.2425:0.2747:0.3418:0.141	.	371	O43353	RIPK2_HUMAN	N	371;234	ENSP00000220751:D371N;ENSP00000441623:D234N	ENSP00000220751:D371N	D	+	1	0	RIPK2	90868043	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.025000	0.12413	0.169000	0.19679	0.650000	0.86243	GAT		0.338	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1				13	124	0	0	0	0.001855	0	13	124		
CPQ	10404	broad.mit.edu	37	8	98155285	98155285	+	Silent	SNP	C	C	T	rs558756532		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98155285C>T	ENST00000220763.5	+	8	1503	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	431					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AGTATTTCTTCTTCCATCACT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18696	0.001		0.0	False		,,,				2504	0.0					uc003yhw.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1291-1293)TTC>TTT		plasma glutamate carboxypeptidase precursor							141.0	132.0	135.0					8																	98155285		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:98155285C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1293C>T	8.37:g.98155285C>T							p.F431F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			8	1459	+	Breast(36;1.86e-05)		431					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.1293C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034710	0.19590	.	.	ENSG00000104324	ENST00000522617	.	.	.	5.65	-1.12	0.09808	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	-17.0848	1.8619	0.03190	0.1161:0.2431:0.2071:0.4337	.	.	.	.	F	89	.	.	S	+	2	0	AC010859.1	98224461	1.000000	0.71417	0.710000	0.30468	0.962000	0.63368	0.610000	0.24253	0.073000	0.16731	-0.131000	0.14894	TCT		0.433	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2		NM_016134		16	37	0	0	0	0.004007	0	16	37		
MTDH	92140	broad.mit.edu	37	8	98712020	98712020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:98712020G>C	ENST00000336273.3	+	7	1415	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	363					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TACCACTTCTGATTATCAGTG	0.333																																						uc003yhz.2		NaN																	0				liver(1)|central_nervous_system(1)	2						c.(1087-1089)GAT>CAT		metadherin							141.0	135.0	137.0					8																	98712020		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98712020G>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1087G>C	8.37:g.98712020G>C	ENSP00000338235:p.Asp363His					MTDH_uc010mbf.2_Intron	p.D363H	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		7	1415	+	Breast(36;2.56e-06)		363			Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1087G>C	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010612	0.75046	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.52295	0.67	5.19	5.19	0.71726	.	0.342205	0.34906	N	0.003593	T	0.65407	0.2688	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67333	-0.5697	10	0.72032	D	0.01	-11.1023	17.2454	0.87026	0.0:0.0:1.0:0.0	.	363	Q86UE4	LYRIC_HUMAN	H	363;33	ENSP00000338235:D363H	ENSP00000338235:D363H	D	+	1	0	MTDH	98781196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.581000	0.87130	0.561000	0.74099	GAT		0.333	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2				27	183	0	0	0	0.008361	0	27	183		
NIPAL2	79815	broad.mit.edu	37	8	99234791	99234791	+	Silent	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:99234791C>A	ENST00000341166.3	-	5	729	c.474G>T	c.(472-474)gtG>gtT	p.V158V	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.V158V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	158						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GAGCAAAGTTCACCAGTAAAT	0.363																																						uc003yil.1		NaN																	0					0						c.(472-474)GTG>GTT		NIPA-like domain containing 2							174.0	162.0	166.0					8																	99234791		2203	4300	6503	SO:0001819	synonymous_variant	79815					integral to membrane		g.chr8:99234791C>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.474G>T	8.37:g.99234791C>A						NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Silent_p.V158V	p.V158V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN			5	730	-			158			Helical; (Potential).		A2RTY8	Silent	SNP	ENST00000341166.3	37	c.474G>T	CCDS6278.1																																																																																				0.363	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1		NM_024759		17	130	1	0	3.52763e-06	0.00499	4.258e-06	17	130		
FBXO43	286151	broad.mit.edu	37	8	101153700	101153700	+	Missense_Mutation	SNP	G	G	C	rs566230735		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:101153700G>C	ENST00000428847.2	-	2	1098	c.782C>G	c.(781-783)tCt>tGt	p.S261C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	261					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATGTGTGATAGAGTCTTTAAA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		20759	0.0		0.0	False		,,,				2504	0.001					uc003yjd.2		NaN																	0				kidney(1)|skin(1)	2						c.(781-783)TCT>TGT		F-box protein 43 isoform b							31.0	31.0	31.0					8																	101153700		1843	4070	5913	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101153700G>C	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.782C>G	8.37:g.101153700G>C	ENSP00000403293:p.Ser261Cys					FBXO43_uc003yje.2_Missense_Mutation_p.S227C|FBXO43_uc010mbp.1_Missense_Mutation_p.S261C	p.S261C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1495	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		261						Missense_Mutation	SNP	ENST00000428847.2	37	c.782C>G	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866618	0.72065	.	.	ENSG00000156509	ENST00000428847	T	0.47869	0.83	5.33	5.33	0.75918	.	1.072620	0.07113	N	0.842476	T	0.69967	0.3170	M	0.61703	1.905	0.40587	D	0.981454	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.64639	-0.6360	10	0.87932	D	0	-17.9119	19.3931	0.94592	0.0:0.0:1.0:0.0	.	227;261	C9J908;Q4G163	.;FBX43_HUMAN	C	261	ENSP00000403293:S261C	ENSP00000403293:S261C	S	-	2	0	FBXO43	101222876	0.698000	0.27777	0.992000	0.48379	0.966000	0.64601	2.582000	0.46085	2.669000	0.90835	0.655000	0.94253	TCT		0.378	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918		23	46	0	0	0	0.002299	0	23	46		
ASAP1	50807	broad.mit.edu	37	8	131200403	131200403	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:131200403G>A	ENST00000518721.1	-	6	659	c.432C>T	c.(430-432)atC>atT	p.I144I	ASAP1_ENST00000357668.1_Silent_p.I144I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	144					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCAAGGTGAAGATCACATTGT	0.353																																						uc003yta.1		NaN																	0				ovary(4)	4						c.(430-432)ATC>ATT		development and differentiation enhancing factor							109.0	114.0	112.0					8																	131200403		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131200403G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.432C>T	8.37:g.131200403G>A						ASAP1_uc011liw.1_Silent_p.I137I	p.I144I	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			5	460	-			144					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.432C>T	CCDS6362.1																																																																																				0.353	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482		44	265	0	0	0	0.00361	0	44	265		
PTK2	5747	broad.mit.edu	37	8	141754781	141754781	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:141754781G>A	ENST00000522684.1	-	19	1833	c.1604C>T	c.(1603-1605)gCa>gTa	p.A535V	PTK2_ENST00000520151.1_3'UTR|PTK2_ENST00000521059.1_Missense_Mutation_p.A535V|PTK2_ENST00000395218.2_Missense_Mutation_p.A535V|PTK2_ENST00000517887.1_Missense_Mutation_p.A579V|PTK2_ENST00000535192.1_Missense_Mutation_p.A535V|PTK2_ENST00000519419.1_Missense_Mutation_p.A579V|PTK2_ENST00000519465.1_Missense_Mutation_p.A163V|PTK2_ENST00000538769.1_Missense_Mutation_p.A203V|PTK2_ENST00000340930.3_Missense_Mutation_p.A535V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	535	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCTAGATATGCAAGAGCTGT	0.383																																						uc003yvu.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1603-1605)GCA>GTA		PTK2 protein tyrosine kinase 2 isoform a							136.0	123.0	127.0					8																	141754781		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141754781G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1604C>T	8.37:g.141754781G>A	ENSP00000429911:p.Ala535Val					PTK2_uc003yvo.2_Missense_Mutation_p.A163V|PTK2_uc011ljq.1_Missense_Mutation_p.A230V|PTK2_uc003yvp.2_Missense_Mutation_p.A203V|PTK2_uc003yvq.2_Missense_Mutation_p.A61V|PTK2_uc003yvr.2_Missense_Mutation_p.A475V|PTK2_uc003yvs.2_Missense_Mutation_p.A535V|PTK2_uc003yvt.2_Missense_Mutation_p.A557V|PTK2_uc003yvv.2_Missense_Mutation_p.A435V|PTK2_uc011ljr.1_Missense_Mutation_p.A535V	p.A535V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		19	1834	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	535			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1604C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195977	0.94960	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88746	0.6520	L	0.55834	1.745	0.80722	D	1	D;P;D;D;D;D;D;B;P;B	0.89917	1.0;0.813;0.997;1.0;0.997;1.0;0.978;0.041;0.932;0.448	D;P;P;D;P;D;P;B;P;B	0.68765	0.96;0.499;0.889;0.945;0.84;0.939;0.82;0.237;0.503;0.199	D	0.86296	0.1677	10	0.29301	T	0.29	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	535;230;455;535;557;535;487;383;203;163	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	V	535;535;163;579;535;487;535;456;230;207;535;203;579;233;381	ENSP00000429911:A535V;ENSP00000438009:A535V;ENSP00000429170:A163V;ENSP00000429082:A579V;ENSP00000429474:A535V;ENSP00000378644:A535V;ENSP00000428492:A207V;ENSP00000341189:A535V;ENSP00000445742:A203V;ENSP00000429129:A579V;ENSP00000430603:A233V	ENSP00000341189:A535V	A	-	2	0	PTK2	141823963	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.640000	0.98453	2.524000	0.85096	0.591000	0.81541	GCA		0.383	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5		NM_005607		30	110	0	0	0	0.003271	0	30	110		
CYP11B2	1585	broad.mit.edu	37	8	143999073	143999073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:143999073C>T	ENST00000323110.2	-	1	186	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	62					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)			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)	TGCAGGTGCTCATAACCCTGC	0.637									Familial Hyperaldosteronism type I																													uc003yxk.1		NaN																	0					0						c.(184-186)GAG>AAG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						88.0	77.0	81.0					8																	143999073		2203	4300	6503	SO:0001583	missense	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.chr8:143999073C>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.184G>A	8.37:g.143999073C>T	ENSP00000325822:p.Glu62Lys						p.E62K	NM_000498	NP_000489	P19099	C11B2_HUMAN			1	187	-	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)		62					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.184G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	8.474	0.858227	0.17178	.	.	ENSG00000179142	ENST00000323110	T	0.68479	-0.33	3.48	3.48	0.39840	.	0.000000	0.39834	U	0.001253	T	0.51753	0.1693	L	0.46157	1.445	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.35649	-0.9780	10	0.06236	T	0.91	.	9.0067	0.36115	0.0:0.7723:0.2276:0.0	.	62	P19099	C11B2_HUMAN	K	62	ENSP00000325822:E62K	ENSP00000325822:E62K	E	-	1	0	CYP11B2	143996075	0.001000	0.12720	0.044000	0.18714	0.255000	0.26057	0.963000	0.29293	1.950000	0.56595	0.655000	0.94253	GAG		0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1				6	55	0	0	0	0.001168	0	6	55		
TOP1MT	116447	broad.mit.edu	37	8	144411579	144411579	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144411579C>T	ENST00000329245.4	-	3	335	c.301G>A	c.(301-303)Gat>Aat	p.D101N	TOP1MT_ENST00000523676.1_Missense_Mutation_p.D3N|TOP1MT_ENST00000519148.1_Missense_Mutation_p.D3N|TOP1MT_ENST00000521193.1_Missense_Mutation_p.D3N	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	101					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TATTCATGATCTAACATCCTC	0.547																																						uc003yxz.2		NaN																	0				ovary(1)	1						c.(301-303)GAT>AAT		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						183.0	169.0	174.0					8																	144411579		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144411579C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.301G>A	8.37:g.144411579C>T	ENSP00000328835:p.Asp101Asn					TOP1MT_uc011lkd.1_Missense_Mutation_p.D3N|TOP1MT_uc011lke.1_Missense_Mutation_p.D3N|TOP1MT_uc010mfb.2_Missense_Mutation_p.D3N|TOP1MT_uc010mfd.1_5'UTR	p.D101N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	320	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		101					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.301G>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208572	0.39003	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591;ENST00000518007;ENST00000518760;ENST00000520950;ENST00000522043	T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	3.83	2.91	0.33838	DNA topoisomerase I, domain 1 (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.286970	0.24007	U	0.042406	T	0.33206	0.0855	L	0.49256	1.55	0.38324	D	0.943613	B	0.18461	0.028	B	0.28916	0.096	T	0.10405	-1.0631	10	0.10111	T	0.7	.	7.7294	0.28779	0.0:0.7277:0.1728:0.0996	.	101	Q969P6	TOP1M_HUMAN	N	101;3;3;3;3;3;70;127;3;158	ENSP00000328835:D101N;ENSP00000428369:D3N;ENSP00000429169:D3N;ENSP00000429181:D3N;ENSP00000427998:D3N;ENSP00000429177:D3N;ENSP00000430209:D70N;ENSP00000428723:D127N;ENSP00000430635:D3N;ENSP00000428931:D158N	ENSP00000328835:D101N	D	-	1	0	TOP1MT	144482954	0.988000	0.35896	0.044000	0.18714	0.233000	0.25261	1.894000	0.39768	0.533000	0.28675	0.609000	0.83330	GAT		0.547	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3		NM_052963		15	121	0	0	0	0.003163	0	15	121		
RHPN1	114822	broad.mit.edu	37	8	144463988	144463988	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:144463988G>A	ENST00000289013.6	+	14	1748	c.1647G>A	c.(1645-1647)ctG>ctA	p.L549L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	574	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CGGCTGGCCTGAAGGAGGGCG	0.677																																						uc003yyb.2		NaN																	0				large_intestine(1)	1						c.(1645-1647)CTG>CTA		rhophilin 1							30.0	40.0	37.0					8																	144463988		2092	4204	6296	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144463988G>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1647G>A	8.37:g.144463988G>A							p.L549L	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		14	1780	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		574			PDZ.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.1647G>A	CCDS47927.1																																																																																				0.677	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1				8	15	0	0	0	0.00308	0	8	15		
ZNF16	7564	broad.mit.edu	37	8	146156262	146156262	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr8:146156262G>A	ENST00000276816.4	-	4	2097	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	ZNF16_ENST00000394909.2_Silent_p.A637A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	637					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGACTGAAGGCTTTCCCAC	0.542																																						uc003zet.2		NaN																	0				ovary(5)	5						c.(1909-1911)GCC>GCT		zinc finger protein 16							125.0	120.0	122.0					8																	146156262		2203	4300	6503	SO:0001819	synonymous_variant	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156262G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1911C>T	8.37:g.146156262G>A						ZNF16_uc003zeu.2_Silent_p.A637A	p.A637A	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	2098	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	637			C2H2-type 16.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	c.1911C>T	CCDS6437.1																																																																																				0.542	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1		NM_006958		28	77	0	0	0	0.005443	0	28	77		
MPDZ	8777	broad.mit.edu	37	9	13224526	13224526	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:13224526G>A	ENST00000319217.7	-	4	487	c.240C>T	c.(238-240)ctC>ctT	p.L80L	MPDZ_ENST00000447879.1_Silent_p.L80L|MPDZ_ENST00000381015.4_Silent_p.L80L|MPDZ_ENST00000381022.2_Silent_p.L80L|MPDZ_ENST00000541718.1_Silent_p.L80L|MPDZ_ENST00000536827.1_Silent_p.L80L|MPDZ_ENST00000546205.1_Silent_p.L80L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	80					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTGGGCTGAGATGAGGAA	0.378																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(238-240)CTC>CTT		multiple PDZ domain protein							102.0	100.0	101.0					9																	13224526		1857	4091	5948	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224526G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.240C>T	9.37:g.13224526G>A						MPDZ_uc010mhy.2_Silent_p.L80L|MPDZ_uc010mhz.2_Silent_p.L80L|MPDZ_uc011lmn.1_Silent_p.L80L|MPDZ_uc003zlb.3_Silent_p.L80L	p.L80L	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	3	297	-			80					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.240C>T																																																																																					0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		27	33	0	0	0	0.004656	0	27	33		
FREM1	158326	broad.mit.edu	37	9	14805073	14805073	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805073C>T	ENST00000380880.3	-	19	4135	c.3352G>A	c.(3352-3354)Gcc>Acc	p.A1118T	FREM1_ENST00000380881.4_Missense_Mutation_p.A1119T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1118T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1118					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AACTGGTCGGCAGTTGGTTCT	0.438																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3352-3354)GCC>ACC		FRAS1 related extracellular matrix 1 precursor							158.0	152.0	154.0					9																	14805073		1943	4147	6090	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805073C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3352G>A	9.37:g.14805073C>T	ENSP00000370262:p.Ala1118Thr					FREM1_uc010mic.2_RNA	p.A1118T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	19	3942	-			1118			CSPG 7.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3352G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649757	0.14516	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29655	1.56;1.56;1.56	5.42	1.37	0.22104	.	0.220400	0.47852	N	0.000208	T	0.16085	0.0387	L	0.31926	0.97	0.21020	N	0.999801	B	0.23058	0.079	B	0.19946	0.027	T	0.24657	-1.0154	10	0.09843	T	0.71	-5.9586	4.5591	0.12151	0.1413:0.4904:0.0:0.3683	.	1118	Q5H8C1	FREM1_HUMAN	T	1119;1118;1118	ENSP00000370263:A1119T;ENSP00000412940:A1118T;ENSP00000370262:A1118T	ENSP00000370257:A1121T	A	-	1	0	FREM1	14795073	0.005000	0.15991	0.024000	0.17045	0.225000	0.24961	0.137000	0.15995	0.287000	0.22375	0.650000	0.86243	GCC		0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		50	60	0	0	0	0.00361	0	50	60		
FREM1	158326	broad.mit.edu	37	9	14805089	14805089	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:14805089C>T	ENST00000380880.3	-	19	4119	c.3336G>A	c.(3334-3336)ctG>ctA	p.L1112L	FREM1_ENST00000380881.4_Silent_p.L1113L|FREM1_ENST00000422223.2_Silent_p.L1112L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1112					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTCTATCCTCAGATGCCTGG	0.408																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3334-3336)CTG>CTA		FRAS1 related extracellular matrix 1 precursor							156.0	149.0	151.0					9																	14805089		1935	4150	6085	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805089C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3336G>A	9.37:g.14805089C>T						FREM1_uc010mic.2_RNA	p.L1112L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	19	3926	-			1112			CSPG 7.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.3336G>A	CCDS47952.1																																																																																				0.408	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		52	64	0	0	0	0.00361	0	52	64		
RPS6	6194	broad.mit.edu	37	9	19376375	19376375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:19376375C>G	ENST00000380394.4	-	6	724	c.666G>C	c.(664-666)gaG>gaC	p.E222D	RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000315377.4_Missense_Mutation_p.E191D|RPS6_ENST00000380384.1_Missense_Mutation_p.E191D|RP11-513M16.8_ENST00000609982.1_RNA	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	222					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CCTGGCGCTTCTCCTTAGCCT	0.448																																						uc003znv.1		NaN																	0				ovary(1)	1						c.(664-666)GAG>GAC		ribosomal protein S6							61.0	64.0	63.0					9																	19376375		2203	4300	6503	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376375C>G		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.666G>C	9.37:g.19376375C>G	ENSP00000369757:p.Glu222Asp					RPS6_uc003znu.1_Missense_Mutation_p.E191D	p.E222D	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	708	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	222					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.666G>C	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265174	0.40095	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.47869	0.85;0.83;0.83	5.08	-2.75	0.05914	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.61218	1.895	0.80722	D	1	B	0.15141	0.012	B	0.19946	0.027	T	0.25328	-1.0135	9	.	.	.	-0.1391	12.9321	0.58292	0.0:0.4942:0.0:0.5057	.	222	P62753	RS6_HUMAN	D	222;191;191	ENSP00000369757:E222D;ENSP00000369745:E191D;ENSP00000369743:E191D	.	E	-	3	2	RPS6	19366375	0.991000	0.36638	0.988000	0.46212	0.964000	0.63967	0.252000	0.18278	-0.471000	0.06891	-0.302000	0.09304	GAG		0.448	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1		NM_001010		32	52	0	0	0	0.002096	0	32	52		
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971003C>T	ENST00000304494.5	-	2	625	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000530628.2_Silent_p.*133*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(355-357)GAG>AAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	26.0	25.0					9																	21971003		2202	4298	6500	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971003C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.355G>A	9.37:g.21971003C>T	ENSP00000307101:p.Glu119Lys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.*174*	p.E119K	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	567	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	119		E -> Q (in a biliary tract tumor).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.355G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	9.497	1.102324	0.20632	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.64085	-0.08;-0.08	5.93	2.91	0.33838	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.69504	0.3118	.	.	.	0.21220	N	0.999751	D	0.71674	0.998	D	0.74023	0.982	T	0.56498	-0.7969	8	0.20519	T	0.43	-4.2732	8.4897	0.33093	0.0:0.4925:0.4233:0.0842	.	119	P42771	CD2A1_HUMAN	K	119	ENSP00000307101:E119K;ENSP00000394932:E119K	ENSP00000307101:E119K	E	-	1	0	CDKN2A	21961003	0.002000	0.14202	0.998000	0.56505	0.865000	0.49528	0.628000	0.24522	0.816000	0.34421	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		14	21	0	0	0	0.001855	0	14	21		
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	T	rs121913381		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:21971036C>T	ENST00000304494.5	-	2	592	c.322G>A	c.(322-324)Gat>Aat	p.D108N	CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122Q|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(322-324)GAT>AAT		cyclin-dependent kinase inhibitor 2A isoform 1							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971036C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>A	9.37:g.21971036C>T	ENSP00000307101:p.Asp108Asn	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163Q	p.D108N	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	534	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.322G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535113|4.535113	0.85812|0.85812	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.93906|0.79653	-3.31;-3.31|-1.29;-1.22	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84474|0.84474	0.5480|0.5480	L|L	0.29908|0.29908	0.895|0.895	0.43360|0.43360	D|D	0.995431|0.995431	D|D	0.89917|0.89917	1.0|1.0	D|D	0.83275|0.66602	0.996|0.945	D|D	0.84949|0.84949	0.0870|0.0870	9|10	0.37606|0.56958	T|D	0.19|0.05	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	N|Q	108|163;122	ENSP00000307101:D108N;ENSP00000394932:D108N|ENSP00000355153:R163Q;ENSP00000432664:R122Q	ENSP00000307101:D108N|ENSP00000355153:R163Q	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		10	17	0	0	0	0.000978	0	10	17		
PLAA	9373	broad.mit.edu	37	9	26905860	26905860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:26905860C>G	ENST00000397292.3	-	14	2454	c.2037G>C	c.(2035-2037)caG>caC	p.Q679H		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	679	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GTGATTCCCTCTGGGACATCA	0.443																																					Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NaN																	0					0						c.(2035-2037)CAG>CAC		phospholipase A2-activating protein							95.0	88.0	90.0					9																	26905860		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905860C>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2037G>C	9.37:g.26905860C>G	ENSP00000380460:p.Gln679His						p.Q679H	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2462	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	679			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.2037G>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847671	0.32606	.	.	ENSG00000137055	ENST00000397292	T	0.51325	0.71	6.07	6.07	0.98685	PUL (2);	0.199943	0.53938	D	0.000043	T	0.39517	0.1081	L	0.28115	0.83	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.12502	-1.0545	10	0.21540	T	0.41	-7.3578	20.6593	0.99626	0.0:1.0:0.0:0.0	.	679	Q9Y263	PLAP_HUMAN	H	679	ENSP00000380460:Q679H	ENSP00000380460:Q679H	Q	-	3	2	PLAA	26895860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.528000	0.53524	2.885000	0.99019	0.655000	0.94253	CAG		0.443	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2		NM_001031689		21	37	0	0	0	0.001523	0	21	37		
NOL6	65083	broad.mit.edu	37	9	33467733	33467733	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:33467733C>T	ENST00000379471.2	-	12	1645	c.1558G>A	c.(1558-1560)Gct>Act	p.A520T	NOL6_ENST00000455041.2_Missense_Mutation_p.A468T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	520					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTCAGCCGAGCCCCCAGGCCC	0.647																																						uc003zsz.2		NaN																	0				ovary(2)	2						c.(1558-1560)GCT>ACT		nucleolar protein family 6 alpha isoform							26.0	28.0	27.0					9																	33467733		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467733C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1558G>A	9.37:g.33467733C>T	ENSP00000368784:p.Ala520Thr					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.A520T|NOL6_uc010mjv.2_Missense_Mutation_p.A517T|NOL6_uc011lob.1_Missense_Mutation_p.A468T|NOL6_uc003ztb.1_Missense_Mutation_p.A520T	p.A520T	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1659	-			520					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	0.257	-1.002468	0.02128	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.22	-6.62	0.01813	.	0.876984	0.10422	N	0.676620	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.12656	-1.0539	10	0.48119	T	0.1	.	2.5069	0.04647	0.1589:0.4164:0.1331:0.2915	.	468;517;520;520;520	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	T	520;520;520;76;520;468	ENSP00000313978:A520T;ENSP00000297990:A520T;ENSP00000368784:A520T;ENSP00000395915:A468T	ENSP00000297990:A520T	A	-	1	0	NOL6	33457733	0.022000	0.18835	0.104000	0.21259	0.008000	0.06430	-0.053000	0.11846	-1.342000	0.02222	-2.029000	0.00425	GCT		0.647	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917		4	37	0	0	0	0.000602	0	4	37		
DCAF12	25853	broad.mit.edu	37	9	34107359	34107359	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:34107359C>T	ENST00000361264.4	-	3	879	c.538G>A	c.(538-540)Gat>Aat	p.D180N	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	180					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AAACTTACATCTCCTACACAC	0.502																																						uc003ztt.2		NaN																	0					0						c.(538-540)GAT>AAT		DDB1 and CUL4 associated factor 12							211.0	177.0	188.0					9																	34107359		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34107359C>T	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.538G>A	9.37:g.34107359C>T	ENSP00000355114:p.Asp180Asn						p.D180N	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			3	880	-			180					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.538G>A	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250733	0.95305	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.63096	-0.02;-0.02;-0.02	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	L	0.47716	1.5	0.80722	D	1	D	0.54207	0.965	P	0.55345	0.774	T	0.60525	-0.7246	10	0.19590	T	0.45	-20.4615	16.27	0.82612	0.0:1.0:0.0:0.0	.	180	Q5T6F0	DCA12_HUMAN	N	180;162;159	ENSP00000355114:D180N;ENSP00000380187:D162N;ENSP00000415833:D159N	ENSP00000355114:D180N	D	-	1	0	DCAF12	34097359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.245000	0.78237	2.575000	0.86900	0.655000	0.94253	GAT		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		NM_015397		29	73	0	0	0	0.00632	0	29	73		
TRMT10B	158234	broad.mit.edu	37	9	37776350	37776350	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:37776350C>T	ENST00000297994.3	+	8	857	c.792C>T	c.(790-792)gtC>gtT	p.V264V	TRMT10B_ENST00000537911.1_Silent_p.V213V|TRMT10B_ENST00000377753.2_Silent_p.V186V|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_Silent_p.V169V	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	264	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										AATACATGGTCAGAAACCAGA	0.438																																						uc004aai.2		NaN																	0					0						c.(790-792)GTC>GTT		RNA (guanine-9-) methyltransferase domain							56.0	51.0	53.0					9																	37776350		1904	4133	6037	SO:0001819	synonymous_variant	158234						methyltransferase activity	g.chr9:37776350C>T	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.792C>T	9.37:g.37776350C>T						RG9MTD3_uc011lqo.1_Silent_p.V213V|RG9MTD3_uc011lqp.1_Silent_p.V186V|RG9MTD3_uc011lqq.1_Silent_p.V153V|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Silent_p.V169V	p.V264V	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN		GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)	8	869	+			264					B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Silent	SNP	ENST00000297994.3	37	c.792C>T	CCDS43804.1																																																																																				0.438	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1		NM_144964		11	12	0	0	0	0.008291	0	11	12		
MAMDC2	256691	broad.mit.edu	37	9	72840940	72840940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72840940G>C	ENST00000377182.4	+	14	2670	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	685					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAATGAAATTGAGTATTAAGA	0.303																																						uc004ahm.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2053-2055)GAG>CAG		MAM domain containing 2 precursor							51.0	53.0	53.0					9																	72840940		2202	4291	6493	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72840940G>C	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.2053G>C	9.37:g.72840940G>C	ENSP00000366387:p.Glu685Gln					MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron	p.E685Q	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			14	2670	+			685					Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.2053G>C	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929186	0.52759	.	.	ENSG00000165072	ENST00000377182	T	0.02916	4.11	5.95	5.95	0.96441	.	0.100830	0.64402	D	0.000003	T	0.05273	0.0140	L	0.57536	1.79	0.58432	D	0.999999	P	0.35507	0.506	B	0.28553	0.091	T	0.36187	-0.9758	10	0.46703	T	0.11	-17.612	20.3747	0.98911	0.0:0.0:1.0:0.0	.	685	Q7Z304	MAMC2_HUMAN	Q	685	ENSP00000366387:E685Q	ENSP00000366387:E685Q	E	+	1	0	MAMDC2	72030760	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.050000	0.71063	2.817000	0.96982	0.563000	0.77884	GAG		0.303	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1		NM_153267		7	16	0	0	0	0.004482	0	7	16		
SMC5	23137	broad.mit.edu	37	9	72962046	72962046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:72962046G>C	ENST00000361138.5	+	20	2691	c.2633G>C	c.(2632-2634)aGa>aCa	p.R878T	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	878					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGATCAAGAGCTTCCTGC	0.418																																						uc004ahr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2632-2634)AGA>ACA		SMC5 protein							91.0	81.0	85.0					9																	72962046		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72962046G>C	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2633G>C	9.37:g.72962046G>C	ENSP00000354957:p.Arg878Thr					SMC5_uc011lry.1_Missense_Mutation_p.R23T	p.R878T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			20	2750	+			878					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2633G>C	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837787	0.71373	.	.	ENSG00000198887	ENST00000361138	T	0.20738	2.05	5.91	5.01	0.66863	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27262	-1.0079	10	0.49607	T	0.09	-22.1991	15.4879	0.75582	0.0673:0.0:0.9327:0.0	.	878	Q8IY18	SMC5_HUMAN	T	878	ENSP00000354957:R878T	ENSP00000354957:R878T	R	+	2	0	SMC5	72151866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.309000	0.78937	2.813000	0.96785	0.655000	0.94253	AGA		0.418	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		7	23	0	0	0	0.004482	0	7	23		
NMRK1	54981	broad.mit.edu	37	9	77683978	77683978	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:77683978C>G	ENST00000361092.4	-	7	666	c.430G>C	c.(430-432)Gat>Cat	p.D144H	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376811.1_Missense_Mutation_p.D148H|NMRK1_ENST00000376808.4_Missense_Mutation_p.D120H	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	144					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										ACATGGCCATCAAAGTATCCC	0.413																																						uc004aju.2		NaN																	0					0						c.(430-432)GAT>CAT		nicotinamide riboside kinase 1 isoform 1							124.0	112.0	116.0					9																	77683978		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77683978C>G	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.430G>C	9.37:g.77683978C>G	ENSP00000354387:p.Asp144His					C9orf95_uc004ajs.3_Missense_Mutation_p.D148H|C9orf95_uc004ajr.3_Missense_Mutation_p.D144H|C9orf95_uc004ajt.3_Missense_Mutation_p.D120H	p.D144H	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN			7	1028	-			144					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.430G>C	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621273	0.87460	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.30182	1.54;1.54;1.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.92	T	0.70417	-0.4877	10	0.54805	T	0.06	-27.1586	20.4898	0.99202	0.0:1.0:0.0:0.0	.	120;148;144	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	H	148;148;144;120	ENSP00000366007:D148H;ENSP00000354387:D144H;ENSP00000366004:D120H	ENSP00000354387:D144H	D	-	1	0	C9orf95	76873798	1.000000	0.71417	0.914000	0.36105	0.813000	0.45954	7.164000	0.77533	2.941000	0.99782	0.655000	0.94253	GAT		0.413	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1		NM_017881		15	70	0	0	0	0.003163	0	15	70		
GKAP1	80318	broad.mit.edu	37	9	86368211	86368211	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:86368211C>T	ENST00000376371.2	-	9	1202	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	GKAP1_ENST00000376365.3_Missense_Mutation_p.E217K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	268					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCTGGATTTCAGCATCTTTC	0.323																																						uc004amy.2		NaN																	0					0						c.(802-804)GAA>AAA		G kinase anchoring protein 1 isoform a							164.0	165.0	164.0					9																	86368211		2203	4298	6501	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86368211C>T	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.802G>A	9.37:g.86368211C>T	ENSP00000365550:p.Glu268Lys					GKAP1_uc004amz.2_Missense_Mutation_p.E217K	p.E268K	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			9	1298	-			268			Potential.		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.802G>A	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857952	0.71834	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.67	5.67	0.87782	.	0.085942	0.85682	D	0.000000	T	0.66056	0.2751	M	0.76574	2.34	0.80722	D	1	B;P	0.39352	0.29;0.669	B;B	0.39531	0.097;0.302	T	0.68116	-0.5494	9	0.44086	T	0.13	-13.0815	17.5231	0.87792	0.0:1.0:0.0:0.0	.	217;268	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	268;217	.	ENSP00000365544:E217K	E	-	1	0	GKAP1	85558031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.886000	0.63149	2.671000	0.90904	0.557000	0.71058	GAA		0.323	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2		NM_025211		19	55	0	0	0	0.007413	0	19	55		
STX17	55014	broad.mit.edu	37	9	102722413	102722413	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:102722413C>T	ENST00000259400.6	+	6	694	c.558C>T	c.(556-558)gtC>gtT	p.V186V	STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.V186V|STX17_ENST00000525640.1_Silent_p.V186V	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	186	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCAACTGGTCACTGACTTCT	0.333																																						uc004bal.3		NaN																	0				large_intestine(1)	1						c.(556-558)GTC>GTT		syntaxin 17							136.0	134.0	135.0					9																	102722413		2203	4300	6503	SO:0001819	synonymous_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102722413C>T	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.558C>T	9.37:g.102722413C>T						STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	p.V186V	NM_017919	NP_060389	P56962	STX17_HUMAN			6	694	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	186			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q4VXC2	Silent	SNP	ENST00000259400.6	37	c.558C>T	CCDS6745.1																																																																																				0.333	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3		NM_017919		29	71	0	0	0	0.002445	0	29	71		
PTPN3	5774	broad.mit.edu	37	9	112144604	112144604	+	Missense_Mutation	SNP	C	C	T	rs147420952	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144604C>T	ENST00000374541.2	-	24	2610	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	PTPN3_ENST00000394827.3_Missense_Mutation_p.E304K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E660K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E682K|PTPN3_ENST00000412145.1_Missense_Mutation_p.E705K	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	836	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGGGCTCGCTGTCCACT	0.537																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2506-2508)GAG>AAG		protein tyrosine phosphatase, non-receptor type		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	107.0	88.0	94.0		2371,2113,1978,1645,1510,2506	5.1	0.2	9	dbSNP_134	94	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense,missense,missense	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_001145371.1,NM_001145372.1,NM_002829.3	56,56,56,56,56,56	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	791/869,705/783,660/738,549/627,504/582,836/914	112144604	7,12999	2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112144604C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2506G>A	9.37:g.112144604C>T	ENSP00000363667:p.Glu836Lys					PTPN3_uc004beb.2_Missense_Mutation_p.E705K|PTPN3_uc004bec.2_Missense_Mutation_p.E660K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E791K|PTPN3_uc011lwh.1_Missense_Mutation_p.E682K|PTPN3_uc011lwd.1_Missense_Mutation_p.E304K|PTPN3_uc011lwe.1_Missense_Mutation_p.E549K|PTPN3_uc011lwf.1_Missense_Mutation_p.E504K	p.E836K	NM_002829	NP_002820	P26045	PTN3_HUMAN			24	2618	-			836			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.2506G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772732	0.69992	0.0	8.14E-4	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.09	5.09	0.68999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.115656	0.56097	D	0.000027	T	0.10766	0.0263	L	0.37750	1.13	0.40964	D	0.984646	P;P;P	0.51933	0.949;0.468;0.463	B;B;B	0.37833	0.259;0.127;0.127	T	0.17899	-1.0354	10	0.27082	T	0.32	.	14.1534	0.65401	0.0:0.8501:0.1499:0.0	.	682;791;836	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	K	836;705;660;836;304;682	ENSP00000416654:E705K;ENSP00000395384:E660K;ENSP00000363667:E836K;ENSP00000378304:E304K;ENSP00000262539:E682K	ENSP00000262539:E682K	E	-	1	0	PTPN3	111184425	1.000000	0.71417	0.223000	0.23860	0.828000	0.46876	4.811000	0.62606	2.356000	0.79943	0.555000	0.69702	GAG		0.537	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				8	26	0	0	0	0.00308	0	8	26		
PTPN3	5774	broad.mit.edu	37	9	112144707	112144707	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:112144707C>T	ENST00000374541.2	-	24	2507	c.2403G>A	c.(2401-2403)gtG>gtA	p.V801V	PTPN3_ENST00000394827.3_Silent_p.V269V|PTPN3_ENST00000446349.1_Silent_p.V625V|PTPN3_ENST00000262539.3_Silent_p.V647V|PTPN3_ENST00000412145.1_Silent_p.V670V	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	801	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGAGATGTGTCACTGTGTGTT	0.572																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2401-2403)GTG>GTA		protein tyrosine phosphatase, non-receptor type							217.0	162.0	181.0					9																	112144707		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112144707C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2403G>A	9.37:g.112144707C>T						PTPN3_uc004beb.2_Silent_p.V670V|PTPN3_uc004bec.2_Silent_p.V625V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V756V|PTPN3_uc011lwh.1_Silent_p.V647V|PTPN3_uc011lwd.1_Silent_p.V269V|PTPN3_uc011lwe.1_Silent_p.V514V|PTPN3_uc011lwf.1_Silent_p.V469V	p.V801V	NM_002829	NP_002820	P26045	PTN3_HUMAN			24	2515	-			801			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.2403G>A	CCDS6776.1																																																																																				0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				14	34	0	0	0	0.00245	0	14	34		
SUSD1	64420	broad.mit.edu	37	9	114904620	114904620	+	Missense_Mutation	SNP	G	G	A	rs113511367	byFrequency	TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:114904620G>A	ENST00000374270.3	-	5	858	c.686C>T	c.(685-687)tCc>tTc	p.S229F	SUSD1_ENST00000374264.2_Missense_Mutation_p.S229F|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.S229F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	229	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAATTTTGGGGACTCCCATGT	0.418																																						uc004bfu.2		NaN																	0					0						c.(685-687)TCC>TTC		sushi domain containing 1 precursor							119.0	122.0	121.0					9																	114904620		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114904620G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.686C>T	9.37:g.114904620G>A	ENSP00000363388:p.Ser229Phe					SUSD1_uc010mui.2_Missense_Mutation_p.S229F|SUSD1_uc010muj.2_Missense_Mutation_p.S229F	p.S229F	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			5	727	-			229			Sushi 1.|Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.686C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768959|2.768959	0.49680|0.49680	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.26223	.|1.75;1.75;1.75	5.66|5.66	2.83|2.83	0.33086|0.33086	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.370973	.|0.19857	.|N	.|0.104520	T|T	0.38188|0.38188	0.1031|0.1031	M|M	0.75615|0.75615	2.305|2.305	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.49696	.|0.911;0.911;0.927	.|P;P;P	.|0.55161	.|0.66;0.562;0.77	T|T	0.15780|0.15780	-1.0425|-1.0425	5|10	.|0.56958	.|D	.|0.05	-0.6727|-0.6727	5.2851|5.2851	0.15696|0.15696	0.2269:0.0:0.6295:0.1436|0.2269:0.0:0.6295:0.1436	.|.	.|229;229;229	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|F	43|229	.|ENSP00000363388:S229F;ENSP00000363381:S229F;ENSP00000363382:S229F	.|ENSP00000363381:S229F	P|S	-|-	1|2	0|0	SUSD1|SUSD1	113944441|113944441	0.001000|0.001000	0.12720|0.12720	0.016000|0.016000	0.15963|0.15963	0.981000|0.981000	0.71138|0.71138	0.949000|0.949000	0.29109|0.29109	0.873000|0.873000	0.35799|0.35799	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.418	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3		NM_022486		61	111	0	0	0	0.00361	0	61	111		
PRPF4	9128	broad.mit.edu	37	9	116053935	116053935	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:116053935G>C	ENST00000374198.4	+	14	1666	c.1564G>C	c.(1564-1566)Gaa>Caa	p.E522Q	PRPF4_ENST00000374199.4_Missense_Mutation_p.E521Q	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	522					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGATGGCTGAATAGATGAC	0.453																																						uc004bgx.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1564-1566)GAA>CAA		PRP4 pre-mRNA processing factor 4 homolog							65.0	59.0	61.0					9																	116053935		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116053935G>C	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.1564G>C	9.37:g.116053935G>C	ENSP00000363313:p.Glu522Gln					PRPF4_uc004bgy.2_Missense_Mutation_p.E521Q	p.E522Q	NM_004697	NP_004688	O43172	PRP4_HUMAN			14	1614	+			522					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.1564G>C	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326299	0.81580	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.65732	-0.17;-0.12	5.71	5.71	0.89125	WD40-repeat-containing domain (1);	0.101732	0.64402	D	0.000002	T	0.72260	0.3438	L	0.49455	1.56	0.80722	D	1	D;D	0.63880	0.985;0.993	P;P	0.57283	0.786;0.817	T	0.73867	-0.3847	10	0.72032	D	0.01	.	18.8515	0.92232	0.0:0.0:1.0:0.0	.	537;522	Q59EL4;O43172	.;PRP4_HUMAN	Q	521;522	ENSP00000363315:E521Q;ENSP00000363313:E522Q	ENSP00000363313:E522Q	E	+	1	0	PRPF4	115093756	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.280000	0.78610	2.697000	0.92050	0.591000	0.81541	GAA		0.453	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2		NM_004697		20	17	0	0	0	0.007413	0	20	17		
NR6A1	2649	broad.mit.edu	37	9	127289083	127289083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289083C>T	ENST00000487099.2	-	8	1333	c.1176G>A	c.(1174-1176)atG>atA	p.M392I	NR6A1_ENST00000373584.3_Missense_Mutation_p.M388I|NR6A1_ENST00000416460.2_Missense_Mutation_p.M387I|NR6A1_ENST00000344523.4_Missense_Mutation_p.M391I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	392					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAATTGCTTTCATGCAAGCAT	0.498																																					Esophageal Squamous(192;272 2884 6208 20560)	uc004bor.1		NaN																	0				ovary(3)	3						c.(1174-1176)ATG>ATA		nuclear receptor subfamily 6, group A, member 1							194.0	165.0	175.0					9																	127289083		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289083C>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1176G>A	9.37:g.127289083C>T	ENSP00000420267:p.Met392Ile					NR6A1_uc004boq.1_Missense_Mutation_p.M387I|NR6A1_uc010mwq.1_Missense_Mutation_p.M388I	p.M392I	NM_033334	NP_201591	Q15406	NR6A1_HUMAN			8	1354	-			392					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1176G>A	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899694	0.72754	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.037175	0.85682	D	0.000000	D	0.97334	0.9128	M	0.64170	1.965	0.58432	D	0.999998	P;P;P	0.46859	0.828;0.885;0.794	B;P;B	0.52031	0.437;0.688;0.406	D	0.97713	1.0192	10	0.62326	D	0.03	.	18.4774	0.90798	0.0:1.0:0.0:0.0	.	388;392;387	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	I	392;388;387;391	ENSP00000420267:M392I;ENSP00000362686:M388I;ENSP00000413701:M387I;ENSP00000341135:M391I	ENSP00000341135:M391I	M	-	3	0	NR6A1	126328904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.228000	0.78079	2.665000	0.90641	0.655000	0.94253	ATG		0.498	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4				35	99	0	0	0	0.005524	0	35	99		
NR6A1	2649	broad.mit.edu	37	9	127289100	127289100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:127289100C>A	ENST00000487099.2	-	8	1316	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E383*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E382*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E386*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	387					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCATACTCCTCGTTGCTGACC	0.498																																					Esophageal Squamous(192;272 2884 6208 20560)	uc004bor.1		NaN																	0				ovary(3)	3						c.(1159-1161)GAG>TAG		nuclear receptor subfamily 6, group A, member 1							194.0	164.0	174.0					9																	127289100		2203	4300	6503	SO:0001587	stop_gained	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289100C>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1159G>T	9.37:g.127289100C>A	ENSP00000420267:p.Glu387*					NR6A1_uc004boq.1_Nonsense_Mutation_p.E382*|NR6A1_uc010mwq.1_Nonsense_Mutation_p.E383*	p.E387*	NM_033334	NP_201591	Q15406	NR6A1_HUMAN			8	1337	-			387					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Nonsense_Mutation	SNP	ENST00000487099.2	37	c.1159G>T	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	38	6.690761	0.97764	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.4774	0.90798	0.0:1.0:0.0:0.0	.	.	.	.	X	387;383;382;386	.	ENSP00000341135:E386X	E	-	1	0	NR6A1	126328921	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	7.228000	0.78079	2.665000	0.90641	0.655000	0.94253	GAG		0.498	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4				38	93	1	0	1.07637e-12	0.004878	1.34313e-12	38	93		
MAPKAP1	79109	broad.mit.edu	37	9	128347847	128347847	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:128347847C>T	ENST00000373498.1	-	4	726	c.658G>A	c.(658-660)Gag>Aag	p.E220K	MAPKAP1_ENST00000373497.5_Missense_Mutation_p.E28K|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E220K|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E220K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E220K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E220K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E28K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E28K			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	220	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AGCTTCGGCTCCCGTCCTTCG	0.542																																						uc004bpv.2		NaN																	0				ovary(2)|lung(2)	4						c.(658-660)GAG>AAG		mitogen-activated protein kinase associated							121.0	102.0	109.0					9																	128347847		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128347847C>T	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.658G>A	9.37:g.128347847C>T	ENSP00000362597:p.Glu220Lys					MAPKAP1_uc011lzt.1_Missense_Mutation_p.E23K|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.E23K|MAPKAP1_uc011lzv.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bpw.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpx.2_Missense_Mutation_p.E28K|MAPKAP1_uc004bpy.2_Missense_Mutation_p.E220K|MAPKAP1_uc004bpz.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Missense_Mutation_p.E23K|MAPKAP1_uc004bqa.2_Missense_Mutation_p.E220K|MAPKAP1_uc010mxc.1_Missense_Mutation_p.E92K	p.E220K	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			5	991	-			220					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.658G>A	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755011	0.89843	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373505;ENST00000373497;ENST00000420643;ENST00000394060;ENST00000427078;ENST00000468896	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	L	0.48174	1.505	0.80722	D	1	D;B;P;B;P;B	0.57257	0.979;0.42;0.607;0.34;0.48;0.21	D;B;B;B;B;B	0.71414	0.973;0.142;0.187;0.108;0.198;0.212	T	0.67273	-0.5712	9	0.26408	T	0.33	1.1265	19.1901	0.93663	0.0:1.0:0.0:0.0	.	28;220;220;220;220;220	B7Z5E5;Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;.;SIN1_HUMAN	K	220;220;28;220;220;28;222;28;28;220;28;121	.	ENSP00000265960:E220K	E	-	1	0	MAPKAP1	127387668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.776000	0.95493	0.655000	0.94253	GAG		0.542	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1				29	58	0	0	0	0.001786	0	29	58		
ENG	2022	broad.mit.edu	37	9	130580997	130580997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130580997G>A	ENST00000373203.4	-	11	1826	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Nonsense_Mutation_p.Q476*	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	476	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCAGGTACCTGCACAAAGCTC	0.612									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.3		NaN																	0					0						c.(1426-1428)CAG>TAG		endoglin isoform 1 precursor							120.0	115.0	116.0					9																	130580997		2203	4300	6503	SO:0001587	stop_gained	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130580997G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1426C>T	9.37:g.130580997G>A	ENSP00000362299:p.Gln476*					ENG_uc011mam.1_Nonsense_Mutation_p.Q287*|ENG_uc004bsk.3_Nonsense_Mutation_p.Q476*|uc004bsl.1_Intron	p.Q476*	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			11	1839	-			476			Ser/Thr-rich.|Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Nonsense_Mutation	SNP	ENST00000373203.4	37	c.1426C>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	G	39	7.548644	0.98352	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	.	.	.	4.33	4.33	0.51752	.	0.000000	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.0324	12.204	0.54342	0.0:0.0:1.0:0.0	.	.	.	.	X	476;476;476;294	.	ENSP00000341917:Q476X	Q	-	1	0	ENG	129620818	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.185000	0.50934	2.244000	0.73946	0.462000	0.41574	CAG		0.612	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1				52	79	0	0	0	0.00361	0	52	79		
LCN2	3934	broad.mit.edu	37	9	130914210	130914210	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:130914210C>T	ENST00000373017.1	+	5	618	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LCN2_ENST00000373013.2_Silent_p.L129L|LCN2_ENST00000540948.1_Silent_p.L127L|LCN2_ENST00000372998.1_Silent_p.L129L|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Silent_p.L127L			P80188	NGAL_HUMAN	lipocalin 2	127					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CGAGTTACCTCGTCCGAGTGG	0.567																																						uc004bto.1		NaN																	0					0						c.(379-381)CTC>CTT		lipocalin 2 precursor							163.0	138.0	147.0					9																	130914210		2203	4300	6503	SO:0001819	synonymous_variant	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130914210C>T		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.381C>T	9.37:g.130914210C>T						LCN2_uc011map.1_Silent_p.L127L	p.L127L	NM_005564	NP_005555	P80188	NGAL_HUMAN			4	454	+			127					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Silent	SNP	ENST00000373017.1	37	c.381C>T	CCDS6892.1																																																																																				0.567	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1		NM_005564		27	57	0	0	0	0.005443	0	27	57		
CERCAM	51148	broad.mit.edu	37	9	131190687	131190687	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131190687C>T	ENST00000372838.4	+	6	1271	c.873C>T	c.(871-873)atC>atT	p.I291I	CERCAM_ENST00000372842.1_Silent_p.I213I	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	291					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCCACCTGATCTTAGAAGCAC	0.612																																						uc004buz.3		NaN																	0				pancreas(1)	1						c.(871-873)ATC>ATT		cerebral endothelial cell adhesion molecule 1							86.0	69.0	75.0					9																	131190687		2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131190687C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.873C>T	9.37:g.131190687C>T						CERCAM_uc004buy.1_Silent_p.I213I|CERCAM_uc010mxz.2_Silent_p.I213I|CERCAM_uc010mya.1_Silent_p.I132I	p.I291I	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			6	1271	+			291					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.873C>T	CCDS6901.2																																																																																				0.612	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174		5	26	0	0	0	0.000602	0	5	26		
SPTAN1	6709	broad.mit.edu	37	9	131369932	131369932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131369932G>T	ENST00000372731.4	+	32	4206	c.4096G>T	c.(4096-4098)Gag>Tag	p.E1366*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1366*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1366*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1366					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTCCTCAGATGAGCTAGCCAA	0.542																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4096-4098)GAG>TAG		spectrin, alpha, non-erythrocytic 1							174.0	170.0	171.0					9																	131369932		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131369932G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4096G>T	9.37:g.131369932G>T	ENSP00000361816:p.Glu1366*					SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1366*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1346*	p.E1366*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			32	4209	+			1366			Spectrin 15.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.4096G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	43	10.322302	0.99383	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7831	0.69781	0.0694:0.0:0.9306:0.0	.	.	.	.	X	1366;1366;1366;1346	.	ENSP00000350882:E1366X	E	+	1	0	SPTAN1	130409753	1.000000	0.71417	0.911000	0.35937	0.973000	0.67179	9.420000	0.97426	1.524000	0.49035	0.655000	0.94253	GAG		0.542	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		73	94	1	0	1.78839e-46	0.00361	2.29321e-46	73	94		
NUP188	23511	broad.mit.edu	37	9	131768878	131768878	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:131768878C>G	ENST00000372577.2	+	44	5192	c.5171C>G	c.(5170-5172)tCt>tGt	p.S1724C	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1724					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AAGTCCACCTCTCTCTCCAAA	0.637											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(5170-5172)TCT>TGT		nucleoporin 188kDa							103.0	98.0	100.0					9																	131768878		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768878C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5171C>G	9.37:g.131768878C>G	ENSP00000361658:p.Ser1724Cys		OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.S1724C	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			44	5193	+			1724					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.5171C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210199	0.58343	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.40756	1.02	5.01	4.11	0.48088	.	0.534605	0.20030	N	0.100732	T	0.39436	0.1078	L	0.47716	1.5	0.36063	D	0.841582	B	0.22480	0.07	B	0.30179	0.112	T	0.48547	-0.9026	10	0.66056	D	0.02	-14.3543	11.2966	0.49282	0.0:0.9099:0.0:0.0901	.	1724	Q5SRE5	NU188_HUMAN	C	1613;1724	ENSP00000361658:S1724C	ENSP00000349125:S1613C	S	+	2	0	NUP188	130808699	0.612000	0.27000	0.995000	0.50966	0.952000	0.60782	6.308000	0.72820	1.097000	0.41459	0.561000	0.74099	TCT		0.637	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				46	45	0	0	0	0.003214	0	46	45		
TSC1	7248	broad.mit.edu	37	9	135776115	135776115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135776115G>C	ENST00000298552.3	-	20	2833	c.2612C>G	c.(2611-2613)tCa>tGa	p.S871*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.S820*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.S871*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	871					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTGGTATCTGAGTGCTTGTT	0.527			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(2611-2613)TCA>TGA		tuberous sclerosis 1 protein isoform 1							169.0	137.0	148.0					9																	135776115		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135776115G>C	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2612C>G	9.37:g.135776115G>C	ENSP00000298552:p.Ser871*					TSC1_uc004ccb.3_Nonsense_Mutation_p.S870*|TSC1_uc011mcq.1_Nonsense_Mutation_p.S820*|TSC1_uc011mcr.1_Intron	p.S871*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	20	2846	-			871			Potential.		B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.2612C>G	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	42	9.307320	0.99132	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.64	5.64	0.86602	.	0.452846	0.24601	N	0.037127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.3366	18.6873	0.91570	0.0:0.0:1.0:0.0	.	.	.	.	X	871;871;820	.	ENSP00000298552:S871X	S	-	2	0	TSC1	134765936	0.897000	0.30589	0.152000	0.22495	0.974000	0.67602	4.925000	0.63425	2.654000	0.90174	0.563000	0.77884	TCA		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				54	82	0	0	0	0.00361	0	54	82		
RALGDS	5900	broad.mit.edu	37	9	135979668	135979668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:135979668C>G	ENST00000372050.3	-	10	1674	c.1653G>C	c.(1651-1653)caG>caC	p.Q551H	RALGDS_ENST00000393160.3_Missense_Mutation_p.Q496H|RALGDS_ENST00000372047.3_Missense_Mutation_p.Q539H|RALGDS_ENST00000542690.1_Missense_Mutation_p.Q622H|RALGDS_ENST00000372062.3_Missense_Mutation_p.Q522H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.Q550H	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	551	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGCCGTTTCTGGGCTCTCT	0.662			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NaN		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1651-1653)CAG>CAC		ral guanine nucleotide dissociation stimulator							86.0	78.0	81.0					9																	135979668		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979668C>G	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1653G>C	9.37:g.135979668C>G	ENSP00000361120:p.Gln551His					RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.Q539H|RALGDS_uc004ccr.2_Missense_Mutation_p.Q550H|RALGDS_uc011mcv.1_Missense_Mutation_p.Q522H|RALGDS_uc004ccs.2_Missense_Mutation_p.Q496H|RALGDS_uc011mcw.1_Missense_Mutation_p.Q622H|RALGDS_uc004ccv.1_Missense_Mutation_p.Q320H|RALGDS_uc004ccu.1_Missense_Mutation_p.Q320H	p.Q551H	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	10	1673	-			551			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1653G>C	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467884	0.43839	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.41758	1.48;1.0;1.48;1.47;1.65;0.99;1.7	5.45	3.27	0.37495	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.307867	0.28135	N	0.016464	T	0.55909	0.1950	L	0.53561	1.675	0.47094	D	0.999317	D;B;B;B;B;B;B;B	0.76494	0.999;0.007;0.328;0.182;0.015;0.169;0.091;0.104	D;B;B;B;B;B;B;B	0.73380	0.98;0.035;0.155;0.147;0.035;0.115;0.039;0.208	T	0.55780	-0.8087	10	0.46703	T	0.11	.	11.9118	0.52743	0.0:0.832:0.0:0.168	.	622;522;551;539;496;550;539;551	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	H	551;539;496;248;550;622;522;111	ENSP00000361120:Q551H;ENSP00000361117:Q539H;ENSP00000376867:Q496H;ENSP00000376864:Q550H;ENSP00000437518:Q622H;ENSP00000361132:Q522H;ENSP00000391814:Q111H	ENSP00000361117:Q539H	Q	-	3	2	RALGDS	134969489	1.000000	0.71417	0.977000	0.42913	0.736000	0.42039	1.687000	0.37680	1.283000	0.44513	0.591000	0.81541	CAG		0.662	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1		NM_006266		16	34	0	0	0	0.004007	0	16	34		
KCNT1	57582	broad.mit.edu	37	9	138657499	138657499	+	Silent	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:138657499G>A	ENST00000263604.3	+	13	1173	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	KCNT1_ENST00000491806.2_Silent_p.T377T|KCNT1_ENST00000488444.2_Silent_p.T391T|KCNT1_ENST00000490355.2_Silent_p.T391T|KCNT1_ENST00000371757.2_Silent_p.T410T|KCNT1_ENST00000486577.2_Silent_p.T371T|KCNT1_ENST00000487664.1_Silent_p.T365T|KCNT1_ENST00000298480.5_Silent_p.T410T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	391					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGTGCCCCACGGAGATGGATG	0.657																																						uc011mdq.1		NaN																	0		p.T410M(1)		large_intestine(2)|ovary(1)|pancreas(1)	4						c.(1228-1230)ACG>ACA		potassium channel, subfamily T, member 1							47.0	43.0	45.0					9																	138657499		2198	4299	6497	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657499G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1173G>A	9.37:g.138657499G>A						KCNT1_uc011mdr.1_Silent_p.T237T|KCNT1_uc010nbf.2_Silent_p.T365T|KCNT1_uc004cgo.1_Silent_p.T159T	p.T410T	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	13	1304	+		Myeloproliferative disorder(178;0.0821)	410					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1230G>A																																																																																					0.657	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822		5	10	0	0	0	0.000602	0	5	10		
NOTCH1	4851	broad.mit.edu	37	9	139390629	139390629	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139390629G>A	ENST00000277541.6	-	34	7637	c.7562C>T	c.(7561-7563)tCc>tTc	p.S2521F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2521	Poly-Ser.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACGAGCTGGACCACTGGTC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0		p.W2521*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(7561-7563)TCC>TTC		notch1 preproprotein							23.0	30.0	28.0					9																	139390629		2059	4168	6227	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390629G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7562C>T	9.37:g.139390629G>A	ENSP00000277541:p.Ser2521Phe	HNSCC(8;0.001)					p.S2521F	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7562	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2521			Poly-Ser.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.7562C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187057	0.78789	.	.	ENSG00000148400	ENST00000277541	D	0.85861	-2.04	4.98	4.98	0.66077	Domain of unknown function DUF3454, notch (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93021	0.6440	10	0.87932	D	0	.	17.5838	0.87976	0.0:0.0:1.0:0.0	.	2521	P46531	NOTC1_HUMAN	F	2521	ENSP00000277541:S2521F	ENSP00000277541:S2521F	S	-	2	0	NOTCH1	138510450	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.609000	0.98334	2.466000	0.83321	0.462000	0.41574	TCC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		8	33	0	0	0	0.000978	0	8	33		
NPDC1	56654	broad.mit.edu	37	9	139937506	139937506	+	Silent	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr9:139937506C>T	ENST00000371601.4	-	2	345	c.132G>A	c.(130-132)ggG>ggA	p.G44G	NPDC1_ENST00000371600.3_Silent_p.G122G|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	44						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGTCCAGGCTCCCGGGACAGG	0.697																																						uc004ckt.2		NaN																	0					0						c.(130-132)GGG>GGA		neural proliferation, differentiation and							24.0	27.0	26.0					9																	139937506		2199	4295	6494	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139937506C>T	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.132G>A	9.37:g.139937506C>T						NPDC1_uc004ckr.2_Silent_p.G44G|NPDC1_uc004cks.2_Silent_p.G122G|NPDC1_uc004cku.2_Silent_p.G44G	p.G44G	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	367	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	44					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.132G>A	CCDS7024.1																																																																																				0.697	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1		NM_015392		4	23	0	0	0	0.001168	0	4	23		
TLR7	51284	broad.mit.edu	37	X	12903875	12903875	+	Missense_Mutation	SNP	C	C	A	rs143823510		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:12903875C>A	ENST00000380659.3	+	3	387	c.248C>A	c.(247-249)gCg>gAg	p.A83E		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	83					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATCTCCCCAGCGTCCTTTCAC	0.483																																						uc004cvc.2		NaN																	0		p.A83A(1)		ovary(2)|lung(2)|breast(1)	5						c.(247-249)GCG>GAG		toll-like receptor 7 precursor	Imiquimod(DB00724)						144.0	134.0	138.0					X																	12903875		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903875C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.248C>A	X.37:g.12903875C>A	ENSP00000370034:p.Ala83Glu						p.A83E	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	387	+			83			Extracellular (Potential).|LRR 2.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.248C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137146	0.01742	.	.	ENSG00000196664	ENST00000380659	T	0.02236	4.38	5.79	-0.329	0.12686	.	0.425946	0.24737	N	0.036005	T	0.01124	0.0037	N	0.16098	0.37	0.09310	N	0.999998	B	0.13594	0.008	B	0.11329	0.006	T	0.49184	-0.8966	10	0.02654	T	1	.	6.6391	0.22899	0.5134:0.335:0.082:0.0696	.	83	Q9NYK1	TLR7_HUMAN	E	83	ENSP00000370034:A83E	ENSP00000370034:A83E	A	+	2	0	TLR7	12813796	0.972000	0.33761	0.906000	0.35671	0.759000	0.43091	0.889000	0.28282	-0.084000	0.12595	0.500000	0.49745	GCG		0.483	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		51	38	1	0	1.46156e-29	0.00361	1.86582e-29	51	38		
REPS2	9185	broad.mit.edu	37	X	17040287	17040287	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17040287G>A	ENST00000357277.3	+	3	610	c.439G>A	c.(439-441)Gag>Aag	p.E147K	REPS2_ENST00000380064.4_Missense_Mutation_p.E8K|REPS2_ENST00000303843.7_Missense_Mutation_p.E147K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	147	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAATGATGGTGAGATACGATT	0.388																																						uc004cxv.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(439-441)GAG>AAG		RALBP1 associated Eps domain containing 2							130.0	132.0	131.0					X																	17040287		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17040287G>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.439G>A	X.37:g.17040287G>A	ENSP00000349824:p.Glu147Lys					REPS2_uc004cxw.1_Missense_Mutation_p.E147K|REPS2_uc011miw.1_Missense_Mutation_p.E7K	p.E147K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			3	610	+	Hepatocellular(33;0.183)		147			EH 1.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.439G>A	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600491	0.66332	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.38240	1.16;1.22;1.15	5.67	5.67	0.87782	.	0.268294	0.31897	N	0.006894	T	0.43567	0.1253	L	0.46157	1.445	0.34035	D	0.654276	P;D;P	0.56746	0.7;0.977;0.952	B;P;P	0.52909	0.193;0.713;0.51	T	0.47761	-0.9092	10	0.17369	T	0.5	-4.5538	16.792	0.85591	0.0:0.0:1.0:0.0	.	8;147;147	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	K	147;147;147;8	ENSP00000349824:E147K;ENSP00000306033:E147K;ENSP00000369404:E8K	ENSP00000306033:E147K	E	+	1	0	REPS2	16950208	1.000000	0.71417	0.052000	0.19188	0.983000	0.72400	5.810000	0.69179	2.527000	0.85204	0.600000	0.82982	GAG		0.388	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1		NM_004726		107	57	0	0	0	0.00361	0	107	57		
NHS	4810	broad.mit.edu	37	X	17744900	17744900	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:17744900C>G	ENST00000380060.3	+	6	2949	c.2611C>G	c.(2611-2613)Ctt>Gtt	p.L871V	NHS_ENST00000398097.3_Missense_Mutation_p.L715V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	892					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAAGCTGCCTCTTGATTTCGC	0.473																																						uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2611-2613)CTT>GTT		Nance-Horan syndrome protein isoform 1							92.0	84.0	87.0					X																	17744900		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744900C>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2611C>G	X.37:g.17744900C>G	ENSP00000369400:p.Leu871Val					NHS_uc011mix.1_Missense_Mutation_p.L892V|NHS_uc004cxy.2_Missense_Mutation_p.L715V|NHS_uc004cxz.2_Missense_Mutation_p.L694V|NHS_uc004cya.2_Missense_Mutation_p.L594V	p.L871V	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2949	+	Hepatocellular(33;0.183)		871					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2611C>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457137	0.43634	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49139	0.79;0.79	5.93	5.93	0.95920	.	0.059469	0.64402	D	0.000002	T	0.67581	0.2908	M	0.66939	2.045	0.50039	D	0.999841	D;D;D;D	0.71674	0.995;0.995;0.995;0.998	P;P;P;D	0.83275	0.894;0.894;0.894;0.996	T	0.61332	-0.7084	10	0.22706	T	0.39	-14.5136	19.2927	0.94108	0.0:1.0:0.0:0.0	.	892;713;715;871	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	V	871;715;713	ENSP00000369400:L871V;ENSP00000381170:L715V	ENSP00000369397:L713V	L	+	1	0	NHS	17654821	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.603000	0.61105	2.509000	0.84616	0.538000	0.68166	CTT		0.473	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		19	53	0	0	0	0.006122	0	19	53		
SUPT20HL2	170067	broad.mit.edu	37	X	24329257	24329257	+	IGR	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:24329257C>T								AC096509.1 (24463 upstream) : AC004552.1 (37668 downstream)																							AACACAGCAGCCTGGGGCTGG	0.607																																						uc011mjw.1		NaN																	0					0						c.(2176-2178)GCT>ACT		family with sequence similarity 48, member B2							17.0	16.0	16.0					X																	24329257		1564	3573	5137	SO:0001628	intergenic_variant	170067							g.chrX:24329257C>T																													X.37:g.24329257C>T							p.A726T	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	2176	-			726			Gln-rich.			Missense_Mutation	SNP		37	c.2176G>A																																																																																				0	0.607										5	2	0	0	0	0.000602	0	5	2		
ZNF41	7592	broad.mit.edu	37	X	47307191	47307191	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:47307191C>T	ENST00000377065.4	-	5	2617	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.E660K|ZNF41_ENST00000397050.2_Missense_Mutation_p.E670K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	702					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTGGGCTTCTCACCTGTGTGG	0.438																																						uc004dhs.3		NaN																	0				ovary(3)	3						c.(2104-2106)GAG>AAG		zinc finger protein 41							108.0	96.0	100.0					X																	47307191		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307191C>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1978G>A	X.37:g.47307191C>T	ENSP00000366265:p.Glu660Lys					ZNF41_uc004dhu.3_Missense_Mutation_p.E694K|ZNF41_uc004dht.3_Missense_Mutation_p.E574K|ZNF41_uc004dhv.3_Missense_Mutation_p.E670K|ZNF41_uc004dhw.3_Missense_Mutation_p.E662K|ZNF41_uc004dhy.3_Missense_Mutation_p.E660K|ZNF41_uc004dhx.3_Missense_Mutation_p.E660K|ZNF41_uc011mlm.1_Missense_Mutation_p.E574K	p.E702K	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	2171	-		all_lung(315;0.000129)	702					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.2104G>A	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424266	0.83667	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.19806	2.12;2.12;2.12	3.69	3.69	0.42338	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003057	T	0.33527	0.0866	L	0.33339	1.005	0.36734	D	0.881866	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.994;0.984;0.994;0.996	T	0.38436	-0.9661	10	0.87932	D	0	.	12.5796	0.56383	0.0:1.0:0.0:0.0	.	660;662;670;694;702	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	K	660;660;670	ENSP00000315173:E660K;ENSP00000366265:E660K;ENSP00000380243:E670K	ENSP00000315173:E660K	E	-	1	0	ZNF41	47192135	0.919000	0.31177	0.994000	0.49952	0.995000	0.86356	2.343000	0.44001	2.120000	0.65058	0.600000	0.82982	GAG		0.438	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1		NM_153380		33	42	0	0	0	0.002836	0	33	42		
GPR173	54328	broad.mit.edu	37	X	53106214	53106214	+	Silent	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:53106214C>G	ENST00000332582.4	+	2	902	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	137					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCATGACACTCTGGACATGCG	0.587																																						uc004dru.2		NaN																	0				skin(1)	1						c.(409-411)CTC>CTG		G protein-coupled receptor 173							59.0	46.0	51.0					X																	53106214		2203	4299	6502	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106214C>G	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.411C>G	X.37:g.53106214C>G							p.L137L	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	669	+			137			Cytoplasmic (Potential).		B1B0A5	Silent	SNP	ENST00000332582.4	37	c.411C>G	CCDS14349.1																																																																																				0.587	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2		NM_018969		28	14	0	0	0	0.005443	0	28	14		
UBQLN2	29978	broad.mit.edu	37	X	56590553	56590553	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:56590553G>C	ENST00000338222.5	+	1	528	c.247G>C	c.(247-249)Gat>Cat	p.D83H		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	83	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AATCTTAAAAGATCAAGATAC	0.483																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(247-249)GAT>CAT		ubiquilin 2							30.0	31.0	31.0					X																	56590553		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590553G>C	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.247G>C	X.37:g.56590553G>C	ENSP00000345195:p.Asp83His					UBQLN2_uc011moq.1_Missense_Mutation_p.D83H	p.D83H	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	482	+			83			Ubiquitin-like.		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.247G>C	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360480	0.61403	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.83250	-1.7	4.64	4.64	0.57946	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.64402	D	0.000001	D	0.93383	0.7890	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95042	0.8179	10	0.87932	D	0	-11.4551	14.1984	0.65686	0.0:0.0:1.0:0.0	.	83;83	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	H	83	ENSP00000345195:D83H	ENSP00000345195:D83H	D	+	1	0	UBQLN2	56607278	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.756000	0.85195	2.317000	0.78254	0.544000	0.68410	GAT		0.483	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		11	25	0	0	0	0.008291	0	11	25		
MED12	9968	broad.mit.edu	37	X	70339888	70339888	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:70339888G>C	ENST00000374080.3	+	4	453	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	MED12_ENST00000374102.1_Missense_Mutation_p.E141Q|MED12_ENST00000333646.6_Missense_Mutation_p.E141Q			Q93074	MED12_HUMAN	mediator complex subunit 12	141					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TAAGAAGGAAGAGGTGTTTGG	0.468			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(421-423)GAG>CAG		mediator complex subunit 12							116.0	109.0	111.0					X																	70339888		1954	4145	6099	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339888G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.421G>C	X.37:g.70339888G>C	ENSP00000363193:p.Glu141Gln					MED12_uc011mpq.1_Missense_Mutation_p.E141Q|MED12_uc004dyz.2_Missense_Mutation_p.E141Q|MED12_uc004dza.2_5'UTR	p.E141Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			4	620	+	Renal(35;0.156)		141					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.421G>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.3|24.3	4.517305|4.517305	0.85495|0.85495	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072|ENST00000429213	T;T;T;T|.	0.59772|.	0.25;0.25;0.25;0.24|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Mediator complex, subunit Med12 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68174|0.68174	0.2972|0.2972	L|L	0.52011|0.52011	1.625|1.625	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P|.	0.55172|.	0.705;0.97;0.858|.	B;P;P|.	0.56434|.	0.235;0.798;0.498|.	T|T	0.65809|0.65809	-0.6078|-0.6078	10|5	0.72032|.	D|.	0.01|.	-12.1126|-12.1126	15.953|15.953	0.79859|0.79859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	141;141;141|.	F5H3Y1;Q93074-3;Q93074|.	.;.;MED12_HUMAN|.	Q|N	141;141;141;141;109|125	ENSP00000333125:E141Q;ENSP00000363215:E141Q;ENSP00000363193:E141Q;ENSP00000414203:E109Q|.	ENSP00000333125:E141Q|.	E|K	+|+	1|3	0|2	MED12|MED12	70256613|70256613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.376000|9.376000	0.97181|0.97181	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GAG|AAG		0.468	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		38	34	0	0	0	0.004289	0	38	34		
ATRX	546	broad.mit.edu	37	X	76888758	76888758	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:76888758G>C	ENST00000373344.5	-	19	5285	c.5071C>G	c.(5071-5073)Caa>Gaa	p.Q1691E	ATRX_ENST00000395603.3_Missense_Mutation_p.Q1653E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1691	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCTTCCTTGAGCAAGATTT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5071-5073)CAA>GAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						229.0	232.0	231.0					X																	76888758		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888758G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5071C>G	X.37:g.76888758G>C	ENSP00000362441:p.Gln1691Glu					ATRX_uc004ecq.3_Missense_Mutation_p.Q1653E|ATRX_uc004eco.3_Missense_Mutation_p.Q1476E	p.Q1691E	NM_000489	NP_000480	P46100	ATRX_HUMAN			19	5303	-			1691			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5071C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747588	0.69533	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92199	-2.98;-2.99	5.64	5.64	0.86602	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.92312	0.7561	L	0.31207	0.915	0.80722	D	1	D;D	0.69078	0.979;0.997	D;D	0.77004	0.946;0.989	D	0.87720	0.2572	10	0.02654	T	1	-11.4396	18.6834	0.91554	0.0:0.0:1.0:0.0	.	1653;1691	P46100-4;P46100	.;ATRX_HUMAN	E	1691;1653	ENSP00000362441:Q1691E;ENSP00000378967:Q1653E	ENSP00000362441:Q1691E	Q	-	1	0	ATRX	76775414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.357000	0.79964	0.594000	0.82650	CAA		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		168	127	0	0	0	0.00361	0	168	127		
TGIF2LX	90316	broad.mit.edu	37	X	89177499	89177499	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:89177499G>A	ENST00000561129.2	+	1	545	c.415G>A	c.(415-417)Gag>Aag	p.E139K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E139K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCAGAGCACCGAGGCGTCTGT	0.582																																						uc004efe.2		NaN																	0				ovary(1)|skin(1)	2						c.(415-417)GAG>AAG		TGFB-induced factor homeobox 2-like, X-linked							50.0	49.0	49.0					X																	89177499		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177499G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.415G>A	X.37:g.89177499G>A	ENSP00000453704:p.Glu139Lys						p.E139K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	464	+			139					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.415G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	5.841	0.339399	0.11069	.	.	ENSG00000153779	ENST00000283891	T	0.63580	-0.05	2.81	-5.19	0.02832	.	.	.	.	.	T	0.35480	0.0933	N	0.14661	0.345	0.09310	N	1	B	0.24426	0.103	B	0.14578	0.011	T	0.14952	-1.0454	8	.	.	.	-24.5002	7.5068	0.27549	0.6858:0.1417:0.1725:0.0	.	139	Q8IUE1	TF2LX_HUMAN	K	139	ENSP00000355119:E139K	.	E	+	1	0	TGIF2LX	89064155	0.073000	0.21202	0.000000	0.03702	0.003000	0.03518	0.651000	0.24873	-1.975000	0.00997	-1.211000	0.01629	GAG		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2		NM_138960		30	33	0	0	0	0.001786	0	30	33		
NOX1	27035	broad.mit.edu	37	X	100118475	100118475	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100118475G>A	ENST00000372966.3	-	3	456	c.251C>T	c.(250-252)tCa>tTa	p.S84L	NOX1_ENST00000217885.5_Splice_Site_p.S84L|NOX1_ENST00000372960.4_Intron|NOX1_ENST00000372964.1_Splice_Site_p.S84L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	84	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GGGACTCACTGAGCAGGTGCC	0.532																																						uc004egj.2		NaN																	0				ovary(1)	1						c.(250-252)TCA>TTA		NADPH oxidase 1 isoform long							82.0	65.0	71.0					X																	100118475		2203	4299	6502	SO:0001630	splice_region_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100118475G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.252+1C>T	X.37:g.100118475G>A						uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.S84L|NOX1_uc010nne.2_Intron	p.S84L	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			3	457	-			84			Cytoplasmic (Potential).|Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.251C>T	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055108	0.55325	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.91577	-2.87;-2.87;-2.87	3.91	3.91	0.45181	Flavoprotein transmembrane component (1);	0.435279	0.23416	N	0.048416	T	0.77890	0.4198	N	0.02830	-0.485	0.80722	D	1	B;B	0.30973	0.13;0.302	B;B	0.29663	0.039;0.105	T	0.77640	-0.2512	10	0.35671	T	0.21	-0.7593	14.1129	0.65134	0.0:0.0:1.0:0.0	.	84;84	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	L	84	ENSP00000362057:S84L;ENSP00000362055:S84L;ENSP00000217885:S84L	ENSP00000217885:S84L	S	-	2	0	NOX1	100005131	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.442000	0.59988	1.954000	0.56735	0.594000	0.82650	TCA		0.532	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1		NM_007052	Missense_Mutation	6	21	0	0	0	0.00308	0	6	21		
TIMM8A	1678	broad.mit.edu	37	X	100603636	100603636	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:100603636G>C	ENST00000372902.3	-	1	548	c.17C>G	c.(16-18)tCt>tGt	p.S6C	TIMM8A_ENST00000480575.1_5'UTR	NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)	6					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|nervous system development (GO:0007399)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)	2						CGCGGAGGAAGAGGAGGAGGA	0.607																																						uc004ehd.2		NaN																	0					0						c.(16-18)TCT>TGT		translocase of inner mitochondrial membrane 8							65.0	62.0	63.0					X																	100603636		2203	4300	6503	SO:0001583	missense	1678				nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding	g.chrX:100603636G>C	U66035	CCDS14481.1	Xq22	2008-02-05	2001-11-28		ENSG00000126953	ENSG00000126953			11817	protein-coding gene	gene with protein product		300356	"""translocase of inner mitochondrial membrane 8 (yeast) homolog A"""	DFN1		10552927, 8841189	Standard	NM_004085		Approved	DDP, MTS	uc004ehd.2	O60220	OTTHUMG00000022028	ENST00000372902.3:c.17C>G	X.37:g.100603636G>C	ENSP00000361993:p.Ser6Cys					TIMM8A_uc011mri.1_Missense_Mutation_p.S6C	p.S6C	NM_004085	NP_004076	O60220	TIM8A_HUMAN			1	322	-			6					B2R5A6|Q6IRW6	Missense_Mutation	SNP	ENST00000372902.3	37	c.17C>G	CCDS14481.1	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453721	0.12283	.	.	ENSG00000126953	ENST00000372902	D	0.84070	-1.8	5.01	2.04	0.26737	.	0.288782	0.25319	N	0.031527	T	0.68081	0.2962	.	.	.	0.09310	N	1	P	0.44734	0.842	B	0.34093	0.175	T	0.62201	-0.6904	9	0.54805	T	0.06	.	4.6708	0.12689	0.1067:0.0:0.5088:0.3845	.	6	O60220	TIM8A_HUMAN	C	6	ENSP00000361993:S6C	ENSP00000361993:S6C	S	-	2	0	TIMM8A	100490292	0.797000	0.28877	0.010000	0.14722	0.053000	0.15095	1.560000	0.36331	0.350000	0.24002	0.544000	0.68410	TCT		0.607	TIMM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057554.1		NM_004085		21	29	0	0	0	0.00333	0	21	29		
RGAG1	57529	broad.mit.edu	37	X	109695911	109695911	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:109695911C>G	ENST00000465301.2	+	3	2312	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S689C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	689										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCACAGTCTCTGGAGGGATG	0.512																																						uc004eor.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2065-2067)TCT>TGT		retrotransposon gag domain containing 1							104.0	89.0	94.0					X																	109695911		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695911C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2066C>G	X.37:g.109695911C>G	ENSP00000419786:p.Ser689Cys					RGAG1_uc011msr.1_Missense_Mutation_p.S689C	p.S689C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	2312	+			689					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2066C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927017	0.18056	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.56941	0.43;0.43	3.71	2.79	0.32731	.	0.672735	0.11722	N	0.535773	T	0.57051	0.2027	L	0.47190	1.495	0.26457	N	0.975508	D	0.69078	0.997	P	0.60345	0.873	T	0.42565	-0.9444	9	.	.	.	0.4697	5.3375	0.15965	0.0:0.8298:0.0:0.1702	.	689	Q8NET4	RGAG1_HUMAN	C	689	ENSP00000419786:S689C;ENSP00000441452:S689C	.	S	+	2	0	RGAG1	109582567	0.984000	0.35163	0.209000	0.23619	0.087000	0.18053	1.009000	0.29886	0.861000	0.35504	0.544000	0.68410	TCT		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769		26	21	0	0	0	0.005443	0	26	21		
UTP14A	10813	broad.mit.edu	37	X	129058892	129058892	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:129058892G>C	ENST00000394422.3	+	12	1498	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	UTP14A_ENST00000371042.3_Missense_Mutation_p.E322D|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.E436D|UTP14A_ENST00000425117.2_Missense_Mutation_p.E438D	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	490					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TCCAGAGAGAGGAACCTGCCC	0.478																																						uc004euz.2		NaN																	0				ovary(2)	2						c.(1468-1470)GAG>GAC		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	117.0	113.0					X																	129058892		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129058892G>C	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1470G>C	X.37:g.129058892G>C	ENSP00000377944:p.Glu490Asp					UTP14A_uc011mup.1_Missense_Mutation_p.E438D|UTP14A_uc011muq.1_Missense_Mutation_p.E436D	p.E490D	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			12	1498	+			490					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1470G>C	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590594	0.66219	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.99	4.13	0.48395	.	0.615008	0.18151	N	0.150089	T	0.32436	0.0829	M	0.65320	2	0.09310	N	1	D;D;P	0.76494	0.999;0.975;0.846	P;P;B	0.61533	0.89;0.842;0.41	T	0.16867	-1.0388	10	0.28530	T	0.3	-10.5353	5.0394	0.14451	0.0885:0.1524:0.6195:0.1395	.	436;438;490	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	D	438;490;436;322	ENSP00000388669:E438D;ENSP00000377944:E490D;ENSP00000360090:E436D;ENSP00000360081:E322D	ENSP00000360081:E322D	E	+	3	2	UTP14A	128886573	0.790000	0.28787	0.314000	0.25224	0.534000	0.34807	1.218000	0.32467	2.524000	0.85096	0.600000	0.82982	GAG		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1		NM_006649		35	99	0	0	0	0.005524	0	35	99		
HTATSF1	27336	broad.mit.edu	37	X	135593382	135593382	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:135593382G>T	ENST00000218364.4	+	9	1652	c.1478G>T	c.(1477-1479)gGa>gTa	p.G493V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G493V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	493	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCCGTAAGAGGATCTGAAGAG	0.443																																						uc004ezw.2		NaN																	0				ovary(2)|breast(1)	3						c.(1477-1479)GGA>GTA		HIV-1 Tat specific factor 1							48.0	49.0	49.0					X																	135593382		2191	4281	6472	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593382G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1478G>T	X.37:g.135593382G>T	ENSP00000218364:p.Gly493Val					HTATSF1_uc004ezx.2_Missense_Mutation_p.G493V	p.G493V	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	1900	+	Acute lymphoblastic leukemia(192;0.000127)		493			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1478G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441687	0.04604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04194	3.68;3.68	4.64	3.5	0.40072	.	0.228764	0.50627	D	0.000114	T	0.02418	0.0074	N	0.08118	0	0.09310	N	0.999999	B	0.27498	0.18	B	0.20767	0.031	T	0.41752	-0.9491	10	0.62326	D	0.03	-3.3884	5.1126	0.14817	0.7639:0.0:0.2361:0.0	.	493	O43719	HTSF1_HUMAN	V	493	ENSP00000442699:G493V;ENSP00000218364:G493V	ENSP00000218364:G493V	G	+	2	0	HTATSF1	135421048	0.264000	0.24093	0.015000	0.15790	0.008000	0.06430	0.573000	0.23699	0.905000	0.36596	-0.407000	0.06327	GGA		0.443	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1		NM_014500		18	23	1	0	1.99824e-07	0.00499	2.42619e-07	18	23		
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:151138714G>A	ENST00000370328.3	-	2	270	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R73C	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	73					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAGGATGCGAGAGGCTTCT	0.547																																						uc004ffi.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(217-219)CGC>TGC		gamma-aminobutyric acid (GABA) A receptor,							177.0	158.0	165.0					X																	151138714		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151138714G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.217C>T	X.37:g.151138714G>A	ENSP00000359353:p.Arg73Cys					GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	p.R73C	NM_004961	NP_004952	P78334	GBRE_HUMAN			2	271	-	Acute lymphoblastic leukemia(192;6.56e-05)		73			Extracellular (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.217C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.513104	0.85389	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.81499	-1.5;-1.5	5.17	2.32	0.28847	Neurotransmitter-gated ion-channel ligand-binding (3);	0.849204	0.10114	N	0.714277	T	0.78735	0.4330	L	0.45352	1.415	0.22240	N	0.999266	D	0.76494	0.999	P	0.54174	0.744	T	0.65076	-0.6256	10	0.59425	D	0.04	.	3.2144	0.06694	0.0992:0.1799:0.5482:0.1727	.	73	P78334	GBRE_HUMAN	C	73	ENSP00000359353:R73C;ENSP00000359350:R73C	ENSP00000359350:R73C	R	-	1	0	GABRE	150889370	0.001000	0.12720	0.003000	0.11579	0.787000	0.44495	0.075000	0.14686	0.114000	0.18032	0.597000	0.82753	CGC		0.547	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984		24	101	0	0	0	0.004656	0	24	101		
FLNA	2316	broad.mit.edu	37	X	153599343	153599343	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:153599343G>C	ENST00000369850.3	-	2	507	c.271C>G	c.(271-273)Cgc>Ggc	p.R91G	FLNA_ENST00000422373.1_Missense_Mutation_p.R91G|FLNA_ENST00000360319.4_Missense_Mutation_p.R91G|FLNA_ENST00000344736.4_Missense_Mutation_p.R91G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	91	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGTGCTTGCGGTGCATCTTC	0.607																																						uc004fkk.2		NaN																	0				breast(6)	6						c.(271-273)CGC>GGC		filamin A, alpha isoform 2							57.0	53.0	55.0					X																	153599343		2201	4298	6499	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599343G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.271C>G	X.37:g.153599343G>C	ENSP00000358866:p.Arg91Gly					FLNA_uc010nuu.1_Missense_Mutation_p.R91G	p.R91G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			2	520	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		91			CH 1.|Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.271C>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840415	0.51057	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.13	5.13	0.70059	Calponin homology domain (5);	0.071778	0.52532	D	0.000062	D	0.91226	0.7235	N	0.04880	-0.145	0.80722	D	1	B;P	0.52316	0.067;0.952	B;P	0.51742	0.036;0.678	D	0.93787	0.7089	10	0.87932	D	0	.	17.3547	0.87332	0.0:0.0:1.0:0.0	.	91;91	P21333-2;P21333	.;FLNA_HUMAN	G	91;64;91;91;91	ENSP00000353467:R91G;ENSP00000416926:R91G;ENSP00000358866:R91G;ENSP00000358863:R91G	ENSP00000358863:R91G	R	-	1	0	FLNA	153252537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.305000	0.65750	2.131000	0.65755	0.525000	0.51046	CGC		0.607	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				14	9	0	0	0	0.003163	0	14	9		
EIF4G2	1982	broad.mit.edu	37	11	10823639	10823640	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr11:10823639_10823640delTG	ENST00000526148.1	-	13	1765_1766	c.1255_1256delCA	c.(1255-1257)caafs	p.Q419fs	EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.Q419fs|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.Q419fs|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.Q419fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACTGCGATTGTGTGGGAGGC	0.431																																						uc001mjc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1255-1257)CAAfs		eukaryotic translation initiation factor 4																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823639_10823640delTG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1255_1256delCA	11.37:g.10823643_10823644delTG	ENSP00000433664:p.Gln419fs					EIF4G2_uc001mjb.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc009ygf.2_Frame_Shift_Del_p.Q213fs|EIF4G2_uc001mjd.2_Frame_Shift_Del_p.Q419fs|EIF4G2_uc001mjf.1_Frame_Shift_Del_p.Q213fs|SNORD97_uc009yge.2_5'Flank	p.Q419fs	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	13	1672_1673	-			419						Frame_Shift_Del	DEL	ENST00000526148.1	37	c.1255_1256delCA	CCDS31428.1																																																																																				0.431	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		15	109	NaN	NaN	NaN	NaN	NaN	15	109	---	---
ARID2	196528	broad.mit.edu	37	12	46240637	46240638	+	Splice_Site	INS	-	-	GCTT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			-	GCTT	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr12:46240637_46240638insGCTT	ENST00000334344.6	+	12	1670		c.e12-1		ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTTCTTTAGCTTCCAGAGC	0.351			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Unknown(1)		skin(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.e12-1		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46240637_46240638insGCTT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1499-1->GCTT	12.37:g.46240638_46240641dupGCTT						ARID2_uc001ror.2_Splice_Site_p.A500_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.A127_splice	p.A500_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	12	1499	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	INS	ENST00000334344.6	37	c.1499_splice	CCDS31783.1																																																																																				0.351	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875	Intron	8	70	NaN	NaN	NaN	NaN	NaN	8	70	---	---
TUSC5	286753	broad.mit.edu	37	17	1183661	1183661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:1183661delC	ENST00000333813.3	+	1	705	c.366delC	c.(364-366)atcfs	p.I122fs		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	122					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCAACCTCATCCCCCTCATCA	0.617																																						uc002fsi.1		NaN																	0				skin(2)	2						c.(364-366)ATCfs		LOST1				1,3709		0,1,1854	99.0	106.0	104.0			5.3	1.0	17		104	0,7880		0,0,3940	no	frameshift	TUSC5	NM_172367.2		0,1,5794	A1A1,A1R,RR		0.0,0.027,0.0086			1183661	1,11589	1941	4121	6062	SO:0001589	frameshift_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1183661delC	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.366delC	17.37:g.1183661delC	ENSP00000329548:p.Ile122fs						p.I122fs	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	705	+			122			Helical; (Potential).		A6NMK4	Frame_Shift_Del	DEL	ENST00000333813.3	37	c.366delC	CCDS42225.1																																																																																				0.617	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1		NM_172367		56	112	NaN	NaN	NaN	NaN	NaN	56	112	---	---
QRICH2	84074	broad.mit.edu	37	17	74283954	74283955	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr17:74283954_74283955delCC	ENST00000262765.5	-	6	3503_3504	c.3324_3325delGG	c.(3322-3327)ctggaafs	p.E1109fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1109										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTTCCCCTTCCAGGATCCTCT	0.559																																						uc002jrd.1		NaN																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3322-3327)CTGGAAfs		glutamine rich 2																																				SO:0001589	frameshift_variant	84074						protein binding	g.chr17:74283954_74283955delCC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3324_3325delGG	17.37:g.74283954_74283955delCC	ENSP00000262765:p.Glu1109fs					QRICH2_uc010wsz.1_Frame_Shift_Del_p.L1034fs|QRICH2_uc010dgw.1_5'UTR	p.L1108fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			6	3504_3505	-			1108_1109			Potential.		A2RRE1|Q96LM3	Frame_Shift_Del	DEL	ENST00000262765.5	37	c.3324_3325delGG	CCDS32741.1																																																																																				0.559	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1		NM_032134		34	96	NaN	NaN	NaN	NaN	NaN	34	96	---	---
SLC14A1	6563	broad.mit.edu	37	18	43310353	43310353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr18:43310353delC	ENST00000321925.4	+	3	300	c.68delC	c.(67-69)tcgfs	p.S23fs	SLC14A1_ENST00000415427.3_Frame_Shift_Del_p.S79fs|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000436407.3_Frame_Shift_Del_p.S79fs|SLC14A1_ENST00000589700.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000586142.1_Frame_Shift_Del_p.S23fs|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	23					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCAGGTTTCGCCATGTCAA	0.507																																						uc010xcn.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(67-69)TCGfs		solute carrier family 14 (urea transporter),							129.0	109.0	116.0					18																	43310353		2203	4300	6503	SO:0001589	frameshift_variant	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310353delC	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.68delC	18.37:g.43310353delC	ENSP00000318546:p.Ser23fs					SLC14A1_uc010dnk.2_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbf.3_Frame_Shift_Del_p.S23fs|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Frame_Shift_Del_p.S79fs|SLC14A1_uc002lbk.3_Frame_Shift_Del_p.S23fs	p.S23fs	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			4	387	+			23					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Frame_Shift_Del	DEL	ENST00000321925.4	37	c.68delC	CCDS11925.1																																																																																				0.507	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2		NM_015865		35	77	NaN	NaN	NaN	NaN	NaN	35	77	---	---
OBSL1	23363	broad.mit.edu	37	2	220435169	220435170	+	Frame_Shift_Ins	INS	-	-	TGCT			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr2:220435169_220435170insTGCT	ENST00000404537.1	-	1	841_842	c.785_786insAGCA	c.(784-786)cacfs	p.H262fs	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000373876.1_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000265318.4_Frame_Shift_Ins_p.H262fs|OBSL1_ENST00000603926.1_Frame_Shift_Ins_p.H262fs|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	262	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAACTTGGCGTGCTTGCCCTC	0.723																																						uc010fwk.2		NaN																	0					0						c.(784-786)CACfs		obscurin-like 1																																				SO:0001589	frameshift_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220435169_220435170insTGCT	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.782_785dupAGCA	2.37:g.220435170_220435173dupTGCT	ENSP00000385636:p.His262fs					OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Frame_Shift_Ins_p.H262fs|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.H262fs	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	842_843	-		Renal(207;0.0376)	262			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Frame_Shift_Ins	INS	ENST00000404537.1	37	c.785_786insAGCA	CCDS46520.1																																																																																				0.723	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1				19	89	NaN	NaN	NaN	NaN	NaN	19	89	---	---
FAT1	2195	broad.mit.edu	37	4	187510105	187510115	+	Frame_Shift_Del	DEL	CAGGCATGTCT	CAGGCATGTCT	-	rs371640114|rs374816994		TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr4:187510105_187510115delCAGGCATGTCT	ENST00000441802.2	-	27	13607_13617	c.13398_13408delAGACATGCCTG	c.(13396-13410)agagacatgcctgccfs	p.RDMPA4466fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4466					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTACCCGCGGCAGGCATGTCTCTAGGAGGGT	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(13396-13410)AGAGACATGCCTGCCfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187510105_187510115delCAGGCATGTCT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13398_13408delAGACATGCCTG	4.37:g.187510105_187510115delCAGGCATGTCT	ENSP00000406229:p.Arg4466fs	HNSCC(5;0.00058)				FAT1_uc010isn.2_Frame_Shift_Del_p.R113fs|FAT1_uc003ize.2_Frame_Shift_Del_p.R357fs	p.R4466fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			27	13586_13596	-			4466_4470			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.13398_13408delAGACATGCCTG	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		16	295	NaN	NaN	NaN	NaN	NaN	16	295	---	---
SLC12A2	6558	broad.mit.edu	37	5	127514329	127514330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chr5:127514329_127514330insA	ENST00000262461.2	+	22	3237_3238	c.3048_3049insA	c.(3049-3051)aaafs	p.K1017fs	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Frame_Shift_Ins_p.K1001fs	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1017					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.Q1016Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CACAGTTTCAGAAAAAACAAGG	0.312																																						uc003kus.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)	3						c.(3046-3051)CAGAAAfs		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127514329_127514330insA		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3054dupA	5.37:g.127514335_127514335dupA	ENSP00000262461:p.Lys1017fs					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Frame_Shift_Ins_p.Q1000fs	p.Q1016fs	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	22	3212_3213	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1016_1017			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Frame_Shift_Ins	INS	ENST00000262461.2	37	c.3048_3049insA	CCDS4144.1																																																																																				0.312	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046		8	77	NaN	NaN	NaN	NaN	NaN	8	77	---	---
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EO-01A-11D-A17V-08	TCGA-G2-A2EO-11A-21D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebb5cdb6-df4a-436d-b4a6-1655d263e3dd	0b75e374-8428-4022-a2ec-06b625c6ab92	g.chrX:44942739delC	ENST00000377967.4	+	23	3360	c.3319delC	c.(3319-3321)cctfs	p.P1107fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1028fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1062fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1114fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1107	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACTAAACTTCCTGCTTTTGT	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3319-3321)CCTfs		ubiquitously transcribed tetratricopeptide							146.0	107.0	120.0					X																	44942739		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44942739delC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3319delC	X.37:g.44942739delC	ENSP00000367203:p.Pro1107fs					KDM6A_uc011mkz.1_Frame_Shift_Del_p.P1159fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.P1062fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.P1114fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.P811fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.P746fs	p.P1107fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			23	3694	+			1107			JmjC.		Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.3319delC	CCDS14265.1																																																																																				0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		29	10	NaN	NaN	NaN	NaN	NaN	29	10	---	---
