#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACTRT2	140625	broad.mit.edu	37	1	2938804	2938804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:2938804C>T	ENST00000378404.2	+	1	759	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	185						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCCACGTGGCGGGCAGGGAC	0.642																																						uc001ajz.2		NA																	0					0						c.(553-555)GCG>GTG		actin-related protein M2							45.0	45.0	45.0					1																	2938804		2202	4300	6502	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938804C>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.554C>T	1.37:g.2938804C>T	ENSP00000367658:p.Ala185Val						p.A185V	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	759	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	185					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.554C>T	CCDS45.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385162	0.82792	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	T	0.14640	2.49	4.85	3.91	0.45181	.	0.000000	0.56097	D	0.000037	T	0.47544	0.1451	H	0.95260	3.645	0.58432	D	0.999995	D	0.76494	0.999	D	0.67900	0.954	T	0.64076	-0.6492	10	0.87932	D	0	.	13.6423	0.62257	0.0:0.8433:0.1567:0.0	.	185	Q8TDY3	ACTT2_HUMAN	V	185	ENSP00000367658:A185V	ENSP00000367658:A185V	A	+	2	0	ACTRT2	2928664	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	5.894000	0.69806	0.986000	0.38683	0.561000	0.74099	GCG		0.642	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		12	79	0	0	0	0	12	79				
KIF1B	23095	broad.mit.edu	37	1	10394634	10394634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:10394634C>T	ENST00000377086.1	+	28	3183	c.2981C>T	c.(2980-2982)gCc>gTc	p.A994V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A948V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A994V			O60333	KIF1B_HUMAN	kinesin family member 1B	994					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACAGGGTGGCCATCGTCAGT	0.517																																						uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2980-2982)GCC>GTC		kinesin family member 1B isoform b							235.0	213.0	220.0					1																	10394634		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10394634C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2981C>T	1.37:g.10394634C>T	ENSP00000366290:p.Ala994Val					KIF1B_uc001aqw.3_Missense_Mutation_p.A948V|KIF1B_uc001aqy.2_Missense_Mutation_p.A968V|KIF1B_uc001aqz.2_Missense_Mutation_p.A994V|KIF1B_uc001ara.2_Missense_Mutation_p.A954V|KIF1B_uc001arb.2_Missense_Mutation_p.A980V	p.A994V	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	28	3183	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	994					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2981C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.696526	0.96802	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.80909	-1.43;-1.43;-1.43	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	L	0.33245	0.995	0.80722	D	1	D;D;D;D;P;D	0.69078	0.99;0.991;0.985;0.997;0.954;0.996	P;P;P;D;P;D	0.81914	0.887;0.78;0.718;0.995;0.541;0.98	D	0.86368	0.1721	10	0.66056	D	0.02	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	980;954;994;968;994;948	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	994;948;994;994	ENSP00000263934:A948V;ENSP00000366290:A994V;ENSP00000366284:A994V	ENSP00000263934:A948V	A	+	2	0	KIF1B	10317221	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.764000	0.85297	2.854000	0.98071	0.655000	0.94253	GCC		0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			75	187	0	0	0	0	75	187				
ZBTB17	7709	broad.mit.edu	37	1	16270105	16270105	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:16270105C>T	ENST00000375743.4	-	11	1797	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	ZBTB17_ENST00000375733.2_Missense_Mutation_p.R522H|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R440H|ZBTB17_ENST00000479282.1_5'Flank	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	522					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGAATGCGGACGTGCCG	0.662																																						uc001axl.3		NA																	0					0						c.(1564-1566)CGC>CAC		zinc finger and BTB domain containing 17							62.0	64.0	63.0					1																	16270105		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16270105C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1565G>A	1.37:g.16270105C>T	ENSP00000364895:p.Arg522His					ZBTB17_uc010obq.1_Missense_Mutation_p.R439H|ZBTB17_uc010obr.1_Missense_Mutation_p.R522H|ZBTB17_uc010obs.1_Missense_Mutation_p.R446H	p.R522H	NM_003443	NP_003434	Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	11	1804	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	522			C2H2-type 8.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.1565G>A	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.149639|2.149639	0.37923|0.37923	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.25749	.|1.78;1.78;1.78	5.34|5.34	3.39|3.39	0.38822|0.38822	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.276731	.|0.35772	.|N	.|0.003000	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18863	.|0.013;0.031;0.009	.|B;B;B	.|0.15052	.|0.005;0.01;0.012	T|T	0.12268|0.12268	-1.0554|-1.0554	5|10	.|0.87932	.|D	.|0	.|.	10.0558|10.0558	0.42244|0.42244	0.1374:0.7905:0.0:0.072|0.1374:0.7905:0.0:0.072	.|.	.|522;440;522	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	T|H	79|522;522;441;440;78	.|ENSP00000364895:R522H;ENSP00000364885:R522H;ENSP00000438529:R440H	.|ENSP00000364881:R78H	A|R	-|-	1|2	0|0	ZBTB17|ZBTB17	16142692|16142692	1.000000|1.000000	0.71417|0.71417	0.792000|0.792000	0.32020|0.32020	0.146000|0.146000	0.21551|0.21551	5.956000|5.956000	0.70315|0.70315	1.236000|1.236000	0.43740|0.43740	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.662	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		4	140	0	0	0	0	4	140				
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:23191380C>T	ENST00000400191.3	+	5	996	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_ENST00000374627.1_Silent_p.S320S|EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.S326S|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000544305.1_Silent_p.S326S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	326	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652																																						uc009vqj.1		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(976-978)TCC>TCT		ephrin receptor EphB2 isoform 1 precursor							28.0	33.0	31.0					1																	23191380		2184	4274	6458	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191380C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.978C>T	1.37:g.23191380C>T						EPHB2_uc001bge.2_Silent_p.S326S|EPHB2_uc001bgf.2_Silent_p.S326S|EPHB2_uc010odu.1_Silent_p.S326S|hsa-mir-4253|MI0015860_5'Flank	p.S326S	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	5	1123	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	326			Extracellular (Potential).|Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.978C>T																																																																																					0.652	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		16	116	0	0	0	0	16	116				
COL8A2	1296	broad.mit.edu	37	1	36563712	36563712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:36563712G>A	ENST00000397799.1	-	4	1794	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P524S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P459S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	524	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGGCCCGGGAGGCCCCGGA	0.756																																						uc001bzv.1		NA																	0				central_nervous_system(1)	1						c.(1570-1572)CCC>TCC		collagen, type VIII, alpha 2 precursor							4.0	5.0	5.0					1																	36563712		1497	3335	4832	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563712G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1570C>T	1.37:g.36563712G>A	ENSP00000380901:p.Pro524Ser					COL8A2_uc001bzw.1_Missense_Mutation_p.P459S	p.P524S	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	1577	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1570C>T	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923995	0.34002	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.91237	-2.81;-2.81;-2.81	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92711	0.6183	10	0.28530	T	0.3	.	16.3272	0.82987	0.0:0.0:1.0:0.0	.	524	P25067	CO8A2_HUMAN	S	524;524;459	ENSP00000305913:P524S;ENSP00000380901:P524S;ENSP00000436433:P459S	ENSP00000305913:P524S	P	-	1	0	COL8A2	36336299	1.000000	0.71417	0.976000	0.42696	0.372000	0.29890	5.448000	0.66612	2.166000	0.68216	0.462000	0.41574	CCC		0.756	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		6	4	0	0	0	0	6	4				
B4GALT2	8704	broad.mit.edu	37	1	44451059	44451059	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:44451059G>T	ENST00000356836.6	+	5	1640	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.D313Y|B4GALT2_ENST00000434555.2_Missense_Mutation_p.D218Y|B4GALT2_ENST00000372324.1_Missense_Mutation_p.D284Y	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	284					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CGAGGATGATGACATCTTCAA	0.597																																						uc001clg.2		NA																	0				ovary(1)|skin(1)	2						c.(850-852)GAC>TAC		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						66.0	61.0	63.0					1																	44451059		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44451059G>T	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.850G>T	1.37:g.44451059G>T	ENSP00000349293:p.Asp284Tyr					B4GALT2_uc001clh.2_Missense_Mutation_p.D218Y|B4GALT2_uc010okl.1_Missense_Mutation_p.D313Y|B4GALT2_uc001cli.2_Missense_Mutation_p.D284Y	p.D284Y	NM_003780	NP_003771	O60909	B4GT2_HUMAN			5	1220	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	284			Lumenal (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.850G>T	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654415	0.88056	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.43	5.43	0.79202	.	0.105878	0.64402	D	0.000008	D	0.96540	0.8871	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.992	D	0.98066	1.0396	10	0.87932	D	0	-16.7029	19.2938	0.94114	0.0:0.0:1.0:0.0	.	313;218;284	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	Y	284;218;284;313	ENSP00000361399:D284Y;ENSP00000407468:D218Y;ENSP00000349293:D284Y;ENSP00000310696:D313Y	ENSP00000310696:D313Y	D	+	1	0	B4GALT2	44223646	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.852000	0.99516	2.564000	0.86499	0.405000	0.27470	GAC		0.597	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		15	62	1	0	1.36e-06	1.44e-06	15	62				
TAL1	6886	broad.mit.edu	37	1	47685565	47685565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:47685565C>T	ENST00000294339.3	-	4	1399	c.823G>A	c.(823-825)Gcg>Acg	p.A275T	TAL1_ENST00000371883.3_Missense_Mutation_p.A277T|TAL1_ENST00000371884.2_Missense_Mutation_p.A275T|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|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)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGGGGGCGCGccgccccct	0.701			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(823-825)GCG>ACG		T-cell acute lymphocytic leukemia 1							11.0	13.0	12.0					1																	47685565		2148	4242	6390	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685565C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.823G>A	1.37:g.47685565C>T	ENSP00000294339:p.Ala275Thr					TAL1_uc009vyq.2_Silent_p.A31A|TAL1_uc001cqy.2_Missense_Mutation_p.A275T	p.A275T	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1400	-			275					D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.823G>A	CCDS547.1	.	.	.	.	.	.	.	.	.	.	C	6.977	0.550310	0.13374	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97553	-4.43;-4.43;-4.43	4.77	1.7	0.24286	.	0.705034	0.13865	N	0.357435	D	0.87497	0.6192	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.78760	-0.2078	10	0.13853	T	0.58	.	3.8484	0.08945	0.0:0.5709:0.2038:0.2253	.	275	P17542	TAL1_HUMAN	T	275;277;275	ENSP00000360951:A275T;ENSP00000360950:A277T;ENSP00000294339:A275T	ENSP00000294339:A275T	A	-	1	0	TAL1	47458152	0.002000	0.14202	0.005000	0.12908	0.345000	0.29048	0.354000	0.20146	1.206000	0.43276	0.478000	0.44815	GCG		0.701	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		16	16	0	0	0	0	16	16				
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	A	rs114601020	byFrequency	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:60139745C>A	ENST00000303721.7	+	14	1626	c.1452C>A	c.(1450-1452)tcC>tcA	p.S484S	FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000371212.1_Silent_p.S396S|FGGY_ENST00000371218.4_Silent_p.S508S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612																																						uc001czi.3		NA																	0				ovary(1)	1						c.(1450-1452)TCC>TCA		FGGY carbohydrate kinase domain containing							226.0	142.0	171.0					1																	60139745		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60139745C>A		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1452C>A	1.37:g.60139745C>A						FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S	p.S484S	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			14	1664	+	all_cancers(7;7.36e-05)		484					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.1452C>A	CCDS611.2																																																																																				0.612	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		9	26	1	0	4.69e-08	5.01e-08	9	26				
NBPF10	100132406	broad.mit.edu	37	1	145311785	145311785	+	Intron	SNP	C	C	G	rs61816394	byFrequency	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:145311785C>G	ENST00000468030.1	+	18	3013				NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Intron																							TACTTTTCCACGCTCAGCAGG	0.453																																						uc001end.3		NA																	0					0						c.e14-1		hypothetical protein LOC100132406							6.0	7.0	7.0					1																	145311785		388	1315	1703	SO:0001627	intron_variant	100132406							g.chr1:145311785C>G																												ENST00000468030.1:c.714+631C>G	1.37:g.145311785C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'Flank|NBPF10_uc010oyl.1_5'Flank|NBPF10_uc010oyj.1_5'Flank	p.R618_splice	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	14	1889	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37	c.1854_splice																																																																																					0.453	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9			3	121	0	0	0	0	3	121				
IGSF8	93185	broad.mit.edu	37	1	160062156	160062156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:160062156C>T	ENST00000368086.1	-	5	1858	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	IGSF8_ENST00000314485.7_Missense_Mutation_p.A548T|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	548	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCACCCAGGCGCTGGGGGCA	0.647																																						uc001fva.2		NA																	0					0						c.(1642-1644)GCC>ACC		immunoglobulin superfamily, member 8							62.0	68.0	66.0					1																	160062156		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062156C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1642G>A	1.37:g.160062156C>T	ENSP00000357065:p.Ala548Thr					IGSF8_uc001fuz.2_Missense_Mutation_p.A548T|IGSF8_uc009wtf.2_Missense_Mutation_p.A548T	p.A548T	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1687	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		548			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1642G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465103	0.63513	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.20881	2.04;2.04	3.5	2.53	0.30540	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.086330	0.44688	U	0.000421	T	0.12689	0.0308	L	0.42245	1.32	0.42205	D	0.991781	D	0.76494	0.999	P	0.50860	0.652	T	0.02603	-1.1135	10	0.34782	T	0.22	.	10.5851	0.45278	0.1951:0.8049:0.0:0.0	.	548	Q969P0	IGSF8_HUMAN	T	548	ENSP00000316664:A548T;ENSP00000357065:A548T	ENSP00000316664:A548T	A	-	1	0	IGSF8	158328780	0.996000	0.38824	0.990000	0.47175	0.981000	0.71138	2.671000	0.46842	0.389000	0.25086	0.400000	0.26472	GCC		0.647	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		20	107	0	0	0	0	20	107				
MRGPRX3	117195	broad.mit.edu	37	11	18159065	18159065	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:18159065T>C	ENST00000396275.2	+	3	677	c.316T>C	c.(316-318)Tac>Cac	p.Y106H		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GACCTTTCCCTACTTTATAGG	0.552																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(316-318)TAC>CAC		MAS-related GPR, member X3							120.0	114.0	116.0					11																	18159065		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159065T>C		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.316T>C	11.37:g.18159065T>C	ENSP00000379571:p.Tyr106His						p.Y106H	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	677	+			106			Helical; Name=3; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.316T>C	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.035316	0.35893	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.08984	3.03;3.03	1.46	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.102243	0.43919	D	0.000512	T	0.19406	0.0466	M	0.87547	2.89	0.22620	N	0.998921	P	0.46512	0.879	P	0.51079	0.658	T	0.03175	-1.1064	10	0.72032	D	0.01	.	6.9182	0.24371	0.0:0.0:0.0:1.0	.	106	Q96LB0	MRGX3_HUMAN	H	106	ENSP00000379571:Y106H;ENSP00000436242:Y106H	ENSP00000379571:Y106H	Y	+	1	0	MRGPRX3	18115641	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	0.700000	0.25601	0.913000	0.36797	0.352000	0.21897	TAC		0.552	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		44	230	0	0	0	0	44	230				
HARBI1	283254	broad.mit.edu	37	11	46637146	46637146	+	Silent	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:46637146C>A	ENST00000326737.3	-	2	889	c.642G>T	c.(640-642)gcG>gcT	p.A214A	ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000526508.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	214						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGTGCATACCCGCTTCAAACT	0.498																																						uc001ncy.2		NA																	0					0						c.(640-642)GCG>GCT		harbinger transposase derived 1							91.0	94.0	93.0					11																	46637146		2201	4299	6500	SO:0001819	synonymous_variant	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637146C>A	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.642G>T	11.37:g.46637146C>A						KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	p.A214A	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			2	890	-			214					D3DQP9	Silent	SNP	ENST00000326737.3	37	c.642G>T	CCDS7920.1																																																																																				0.498	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		37	215	1	0	3.75e-06	3.94e-06	37	215				
MS4A10	341116	broad.mit.edu	37	11	60561573	60561573	+	Silent	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr11:60561573C>A	ENST00000308287.1	+	5	585	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	163						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACCCCAACTCCACGGTGAGTA	0.567																																						uc001npz.1		NA																	0				ovary(1)|skin(1)	2						c.(487-489)TCC>TCA		membrane-spanning 4-domains, subfamily A, member							86.0	80.0	82.0					11																	60561573		2203	4299	6502	SO:0001819	synonymous_variant	341116					integral to membrane	receptor activity	g.chr11:60561573C>A	AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.489C>A	11.37:g.60561573C>A							p.S163S	NM_206893	NP_996776	Q96PG2	M4A10_HUMAN			5	585	+			163			Extracellular (Potential).		B2RP45|Q96PG3	Silent	SNP	ENST00000308287.1	37	c.489C>A	CCDS7992.1																																																																																				0.567	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893		4	159	1	0	0.00909568	0.00919348	4	159				
NOP2	4839	broad.mit.edu	37	12	6666429	6666429	+	Silent	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:6666429T>A	ENST00000322166.5	-	16	2290	c.2169A>T	c.(2167-2169)acA>acT	p.T723T	NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000382421.3_Silent_p.T756T|IFFO1_ENST00000336604.4_5'Flank|NOP2_ENST00000541778.1_Silent_p.T719T|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000399466.2_Silent_p.T719T|NOP2_ENST00000542015.1_5'UTR|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000537442.1_Silent_p.T723T	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	723					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTTGTGTGTCTGTGCCCTTGG	0.537																																						uc001qph.1		NA																	0				ovary(2)	2						c.(2155-2157)ACA>ACT		nucleolar protein 1, 120kDa							221.0	218.0	219.0					12																	6666429		1981	4203	6184	SO:0001819	synonymous_variant	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6666429T>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2169A>T	12.37:g.6666429T>A						IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Silent_p.T719T|NOP2_uc001qpj.1_Silent_p.T148T	p.T719T	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			16	2337	-			723					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	c.2157A>T	CCDS58203.1																																																																																				0.537	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		62	436	0	0	0	0	62	436				
SOX5	6660	broad.mit.edu	37	12	23689485	23689485	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:23689485C>A	ENST00000451604.2	-	14	1991	c.1890G>T	c.(1888-1890)aaG>aaT	p.K630N	SOX5_ENST00000546136.1_Missense_Mutation_p.K617N|SOX5_ENST00000309359.1_Missense_Mutation_p.K617N|SOX5_ENST00000545921.1_Missense_Mutation_p.K620N|SOX5_ENST00000396007.2_Missense_Mutation_p.K244N|SOX5_ENST00000537393.1_Missense_Mutation_p.K595N|SOX5_ENST00000541536.1_Missense_Mutation_p.K509N|SOX5_ENST00000381381.2_Missense_Mutation_p.K509N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	630					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	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)	p.K630K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGCAGGTGCGCTTTGGCCTGG	0.517																																						uc001rfw.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(5)|lung(1)	6						c.(1888-1890)AAG>AAT		SRY (sex determining region Y)-box 5 isoform a							122.0	104.0	110.0					12																	23689485		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23689485C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1890G>T	12.37:g.23689485C>A	ENSP00000398273:p.Lys630Asn					SOX5_uc001rfx.2_Missense_Mutation_p.K617N|SOX5_uc001rfy.2_Missense_Mutation_p.K509N|SOX5_uc001rfv.2_Missense_Mutation_p.K244N|SOX5_uc010siv.1_Missense_Mutation_p.K617N|SOX5_uc010siw.1_RNA	p.K630N	NM_006940	NP_008871	P35711	SOX5_HUMAN			14	1992	-			630					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1890G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220970	0.79464	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.6	5.6	0.85130	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	M	0.84773	2.715	0.47547	D	0.999452	D;D;P	0.71674	0.989;0.998;0.835	D;D;P	0.75484	0.978;0.986;0.553	T	0.79971	-0.1578	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	509;630;244	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	N	617;617;509;630;595;509;244;620	ENSP00000437487:K617N;ENSP00000308927:K617N;ENSP00000370788:K509N;ENSP00000398273:K630N;ENSP00000439832:K595N;ENSP00000441973:K509N;ENSP00000379328:K244N;ENSP00000443520:K620N	ENSP00000308927:K617N	K	-	3	2	SOX5	23580752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.241000	0.32743	2.788000	0.95919	0.650000	0.86243	AAG		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	136	1	0	1.22e-17	1.34e-17	33	136				
KMT2D	8085	broad.mit.edu	37	12	49425421	49425421	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:49425421C>T	ENST00000301067.7	-	39	13066	c.13067G>A	c.(13066-13068)gGg>gAg	p.G4356E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4356	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGAGACCCTCCCAGGAGGCGG	0.622																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13066-13068)GGG>GAG		myeloid/lymphoid or mixed-lineage leukemia 2							17.0	18.0	18.0					12																	49425421		1883	4110	5993	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425421C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13067G>A	12.37:g.49425421C>T	ENSP00000301067:p.Gly4356Glu	HNSCC(34;0.089)					p.G4356E	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	13067	-			4356			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.13067G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553485	0.13374	.	.	ENSG00000167548	ENST00000301067	T	0.80653	-1.4	4.93	4.04	0.47022	.	0.233207	0.22296	N	0.061922	T	0.64136	0.2571	N	0.19112	0.55	0.35568	D	0.805203	B	0.27997	0.197	B	0.21708	0.036	T	0.68322	-0.5439	10	0.87932	D	0	.	5.8602	0.18743	0.0:0.6645:0.1614:0.174	.	4356	O14686	MLL2_HUMAN	E	4356	ENSP00000301067:G4356E	ENSP00000301067:G4356E	G	-	2	0	MLL2	47711688	0.007000	0.16637	1.000000	0.80357	0.998000	0.95712	0.241000	0.18065	1.409000	0.46915	0.655000	0.94253	GGG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	26	0	0	0	0	3	26				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						uc001smz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(622-624)TTC>CTC		NGFI-A binding protein 2							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu						p.F208L	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		4	34	0	0	0	0	4	34				
PTPRB	5787	broad.mit.edu	37	12	70956847	70956847	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:70956847G>A	ENST00000261266.5	-	14	3320	c.3291C>T	c.(3289-3291)tcC>tcT	p.S1097S	PTPRB_ENST00000550358.1_Silent_p.S1227S|PTPRB_ENST00000334414.6_Silent_p.S1315S|PTPRB_ENST00000538708.1_Silent_p.S1007S|PTPRB_ENST00000551525.1_Silent_p.S1314S|PTPRB_ENST00000550857.1_Silent_p.S1007S|PTPRB_ENST00000451516.2_Silent_p.S1007S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1097	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTGCCTGGTGGAGTTCTCTG	0.562																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(3289-3291)TCC>TCT		protein tyrosine phosphatase, receptor type, B							38.0	37.0	37.0					12																	70956847		1951	4164	6115	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70956847G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3291C>T	12.37:g.70956847G>A						PTPRB_uc010sto.1_Silent_p.S1007S|PTPRB_uc010stp.1_Silent_p.S1007S|PTPRB_uc001swc.3_Silent_p.S1315S|PTPRB_uc001swa.3_Silent_p.S1227S|PTPRB_uc001swd.3_Silent_p.S1314S|PTPRB_uc009zrr.1_Silent_p.S1194S	p.S1097S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3321	-	Renal(347;0.236)		1097			Fibronectin type-III 13.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.3291C>T	CCDS44944.1																																																																																				0.562	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	47	0	0	0	0	4	47				
ACACB	32	broad.mit.edu	37	12	109610133	109610133	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr12:109610133G>A	ENST00000338432.7	+	6	1208	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	ACACB_ENST00000377854.5_Silent_p.L363L|ACACB_ENST00000377848.3_Silent_p.L363L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	363	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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTCCGGAGCTGCTGTGCAAGA	0.512																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1087-1089)CTG>CTA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						220.0	235.0	230.0					12																	109610133		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109610133G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1089G>A	12.37:g.109610133G>A						ACACB_uc001toc.2_Silent_p.L363L	p.L363L	NM_001093	NP_001084	O00763	ACACB_HUMAN			6	1208	+			363			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1089G>A	CCDS31898.1																																																																																				0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		127	300	0	0	0	0	127	300				
USPL1	10208	broad.mit.edu	37	13	31205139	31205139	+	Silent	SNP	C	C	T	rs182967787	byFrequency	TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:31205139C>T	ENST00000255304.4	+	4	738	c.396C>T	c.(394-396)gaC>gaT	p.D132D	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	132					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)		TTGCTATTGACGGTGGAAAAG	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		20884	0.002		0.0	False		,,,				2504	0.0				Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	0				pancreas(2)|skin(1)	3						c.(394-396)GAC>GAT		ubiquitin specific peptidase like 1							62.0	64.0	64.0					13																	31205139		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205139C>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.396C>T	13.37:g.31205139C>T						USPL1_uc001utb.2_Translation_Start_Site|USPL1_uc001utd.2_Intron	p.D132D	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	828	+		Lung SC(185;0.0257)|Breast(139;0.203)	132					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.396C>T	CCDS9336.1																																																																																				0.368	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		24	49	0	0	0	0	24	49				
LCP1	3936	broad.mit.edu	37	13	46701815	46701815	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr13:46701815C>G	ENST00000398576.2	-	19	2183	c.1795G>C	c.(1795-1797)Gcc>Ccc	p.A599P	LCP1_ENST00000435666.2_Missense_Mutation_p.A168P|LCP1_ENST00000323076.2_Missense_Mutation_p.A599P			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTGGCAGGGCATACACTCTT	0.488			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1795-1797)GCC>CCC		L-plastin							193.0	180.0	185.0					13																	46701815		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701815C>G	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1795G>C	13.37:g.46701815C>G	ENSP00000381581:p.Ala599Pro					LCP1_uc010ack.2_Missense_Mutation_p.A168P|LCP1_uc001vay.3_Missense_Mutation_p.A196P|LCP1_uc001vba.3_Missense_Mutation_p.A599P	p.A599P	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	16	1921	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	599			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1795G>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922013	0.92319	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95756	-3.8;-3.8;-3.8	5.72	4.86	0.63082	Calponin homology domain (5);	0.044394	0.85682	D	0.000000	D	0.98061	0.9361	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.98523	1.0624	10	0.49607	T	0.09	-16.4361	15.3882	0.74718	0.1404:0.8596:0.0:0.0	.	168;599	B4DUA0;P13796	.;PLSL_HUMAN	P	599;599;168	ENSP00000315757:A599P;ENSP00000381581:A599P;ENSP00000405134:A168P	ENSP00000315757:A599P	A	-	1	0	LCP1	45599816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	1.525000	0.49052	0.655000	0.94253	GCC		0.488	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	294	0	0	0	0	10	294				
TEP1	7011	broad.mit.edu	37	14	20854732	20854732	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:20854732C>T	ENST00000262715.5	-	19	2775	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E	TEP1_ENST00000556935.1_Missense_Mutation_p.G804E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	912					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCCGCTCCCCATGCATGTC	0.622																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(2734-2736)GGG>GAG		telomerase-associated protein 1							42.0	41.0	41.0					14																	20854732		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854732C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2735G>A	14.37:g.20854732C>T	ENSP00000262715:p.Gly912Glu					TEP1_uc010ahk.2_Missense_Mutation_p.G262E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G804E	p.G912E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	19	2775	-	all_cancers(95;0.00123)	all_lung(585;0.235)	912					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2735G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128427	0.77549	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.36157	1.27;1.27	5.21	4.26	0.50523	.	0.117944	0.56097	D	0.000038	T	0.47414	0.1444	L	0.35487	1.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.985;0.985;0.99	T	0.48703	-0.9012	10	0.87932	D	0	-21.4723	12.9963	0.58648	0.0:0.7121:0.2879:0.0	.	804;262;912	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	E	912;912;804	ENSP00000262715:G912E;ENSP00000452574:G804E	ENSP00000262715:G912E	G	-	2	0	TEP1	19924572	0.923000	0.31300	0.999000	0.59377	0.944000	0.59088	3.226000	0.51254	2.423000	0.82170	0.655000	0.94253	GGG		0.622	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		9	28	0	0	0	0	9	28				
BCL11B	64919	broad.mit.edu	37	14	99641386	99641386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr14:99641386C>T	ENST00000357195.3	-	4	1796	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D	BCL11B_ENST00000345514.2_Missense_Mutation_p.G525D|BCL11B_ENST00000443726.2_Missense_Mutation_p.G402D	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	596	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATGACCTTGCCCAGCACCAG	0.741			T	TLX3	T-ALL																																	uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1786-1788)GGC>GAC		B-cell CLL/lymphoma 11B isoform 1							23.0	24.0	24.0					14																	99641386		2127	4110	6237	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641386C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1787G>A	14.37:g.99641386C>T	ENSP00000349723:p.Gly596Asp					BCL11B_uc001ygb.2_Missense_Mutation_p.G525D	p.G596D	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2054	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	596			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1787G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	9.384	1.073696	0.20147	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11277	2.82;2.82;2.79	3.6	2.68	0.31781	.	5.273020	0.02542	N	0.094752	T	0.09642	0.0237	L	0.27053	0.805	0.42758	D	0.993792	B;B	0.19331	0.024;0.035	B;B	0.18871	0.023;0.013	T	0.44159	-0.9346	10	0.06891	T	0.86	-7.2592	12.2274	0.54468	0.1722:0.8278:0.0:0.0	.	525;596	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	D	596;525;402	ENSP00000349723:G596D;ENSP00000280435:G525D;ENSP00000387419:G402D	ENSP00000280435:G525D	G	-	2	0	BCL11B	98711139	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.136000	0.64783	0.582000	0.29556	0.561000	0.74099	GGC		0.741	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		9	61	0	0	0	0	9	61				
LINS	55180	broad.mit.edu	37	15	101120660	101120660	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr15:101120660C>A	ENST00000314742.8	-	2	610	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	LINS_ENST00000560133.1_Intron|LINS_ENST00000561308.1_Missense_Mutation_p.D130Y|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	130										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AATTTAGAATCGACTTTGGCT	0.313																																						uc002bwe.2		NA																	0					0						c.(388-390)GAT>TAT		lines homolog 1							65.0	67.0	67.0					15																	101120660		2202	4299	6501	SO:0001583	missense	55180							g.chr15:101120660C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.388G>T	15.37:g.101120660C>A	ENSP00000318423:p.Asp130Tyr					LINS1_uc002bwf.2_Missense_Mutation_p.D130Y|LINS1_uc002bwg.2_Missense_Mutation_p.D130Y|LINS1_uc002bwh.2_Missense_Mutation_p.D130Y|LINS1_uc010usa.1_Intron|LINS1_uc002bwi.2_Missense_Mutation_p.D130Y	p.D130Y	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		3	679	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		130					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.388G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645608	0.47258	.	.	ENSG00000140471	ENST00000314742	T	0.11495	2.77	5.78	5.78	0.91487	.	0.246880	0.39909	N	0.001231	T	0.31765	0.0807	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	T	0.00458	-1.1727	10	0.87932	D	0	-16.8344	18.1831	0.89785	0.0:1.0:0.0:0.0	.	130;130	Q8NG48-2;Q8NG48	.;LINES_HUMAN	Y	130	ENSP00000318423:D130Y	ENSP00000318423:D130Y	D	-	1	0	LINS	98938183	0.994000	0.37717	0.949000	0.38748	0.041000	0.13682	3.405000	0.52630	2.722000	0.93159	0.650000	0.86243	GAT		0.313	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		13	81	1	0	9.05e-12	9.84e-12	13	81				
ARMC5	79798	broad.mit.edu	37	16	31477726	31477726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr16:31477726G>A	ENST00000563544.1	+	7	2870	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q	ARMC5_ENST00000538189.1_Missense_Mutation_p.R807Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R419Q|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.R870Q|ARMC5_ENST00000268314.4_Missense_Mutation_p.R775Q			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	775	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTTTCTTCCGGGCCCTGCTG	0.667																																						uc002ecc.2		NA																	0				pancreas(1)	1						c.(2323-2325)CGG>CAG		armadillo repeat containing 5 isoform a							24.0	27.0	26.0					16																	31477726		2001	4159	6160	SO:0001583	missense	79798						binding	g.chr16:31477726G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2324G>A	16.37:g.31477726G>A	ENSP00000456877:p.Arg775Gln					ARMC5_uc010vfn.1_Missense_Mutation_p.R870Q|ARMC5_uc010vfo.1_Missense_Mutation_p.R807Q|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.R583Q|ARMC5_uc002ecb.2_3'UTR	p.R775Q	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			6	2853	+			775			BTB.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.2324G>A	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	32	5.151495	0.94645	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.56	5.56	0.83823	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	M	0.80183	2.485	0.34784	D	0.735002	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69307	0.963;0.963;0.963;0.963	D	0.89556	0.3803	10	0.66056	D	0.02	-18.0971	17.0162	0.86420	0.0:0.0:1.0:0.0	.	807;807;870;775	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	Q	870;807;775;419	ENSP00000386125:R870Q;ENSP00000443995:R807Q;ENSP00000268314:R775Q;ENSP00000400183:R419Q	ENSP00000268314:R775Q	R	+	2	0	ARMC5	31385227	0.476000	0.25901	1.000000	0.80357	0.958000	0.62258	0.825000	0.27393	2.604000	0.88044	0.546000	0.68486	CGG		0.667	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		8	30	0	0	0	0	8	30				
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:7578427T>A	ENST00000269305.4	-	5	692	c.503A>T	c.(502-504)cAc>cTc	p.H168L	TP53_ENST00000455263.2_Missense_Mutation_p.H168L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000420246.2_Missense_Mutation_p.H168L	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	168	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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)	CTCCGTCATGTGCTGTGACTG	0.652		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		53	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - compound substitution(2)|Insertion - Frameshift(1)	p.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)	lung(10)|breast(8)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|skin(2)|ovary(2)|vulva(1)|soft_tissue(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(502-504)CAC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578427		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.chr17:7578427T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.503A>T	17.37:g.7578427T>A	ENSP00000269305:p.His168Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H168L|TP53_uc002gih.2_Missense_Mutation_p.H168L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36L|TP53_uc010cng.1_Missense_Mutation_p.H36L|TP53_uc002gii.1_Missense_Mutation_p.H36L|TP53_uc010cnh.1_Missense_Mutation_p.H168L|TP53_uc010cni.1_Missense_Mutation_p.H168L|TP53_uc002gij.2_Missense_Mutation_p.H168L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75L|TP53_uc002gio.2_Missense_Mutation_p.H36L|TP53_uc010vug.1_Missense_Mutation_p.H129L	p.H168L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	697	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	168		QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.503A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089392	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.59	0.619	0.17630	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.433617	0.26390	N	0.024660	D	0.99441	0.9802	M	0.82323	2.585	0.43457	D	0.995658	P;P;B;P;P;P;P	0.47962	0.655;0.903;0.163;0.774;0.763;0.702;0.881	B;P;B;P;P;P;P	0.56788	0.367;0.806;0.085;0.716;0.717;0.748;0.481	D	0.98249	1.0492	10	0.87932	D	0	-5.8035	1.5779	0.02628	0.1555:0.1517:0.1294:0.5634	.	129;168;168;75;168;168;168	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	168;168;168;168;168;168;157;75;36;75;36	ENSP00000410739:H168L;ENSP00000352610:H168L;ENSP00000269305:H168L;ENSP00000398846:H168L;ENSP00000391127:H168L;ENSP00000391478:H168L;ENSP00000425104:H36L;ENSP00000423862:H75L	ENSP00000269305:H168L	H	-	2	0	TP53	7519152	1.000000	0.71417	0.001000	0.08648	0.147000	0.21601	5.155000	0.64900	-0.137000	0.11455	-0.256000	0.11100	CAC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	48	0	0	0	0	11	48				
MFSD6L	162387	broad.mit.edu	37	17	8701070	8701070	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:8701070C>T	ENST00000329805.4	-	1	1597	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	457						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATGGGGAGGACGGACCACCAG	0.612																																						uc002glp.1		NA																	0				central_nervous_system(1)	1						c.(1369-1371)GTC>ATC		major facilitator superfamily domain containing							69.0	73.0	71.0					17																	8701070		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701070C>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1369G>A	17.37:g.8701070C>T	ENSP00000330051:p.Val457Ile						p.V457I	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	1517	-			457			Helical; (Potential).		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.1369G>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657750	0.29425	.	.	ENSG00000185156	ENST00000329805	D	0.87809	-2.3	4.9	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);	0.277086	0.27631	N	0.018519	T	0.76737	0.4029	L	0.45137	1.4	0.21675	N	0.999591	P	0.40731	0.728	B	0.30495	0.116	T	0.66854	-0.5818	10	0.10636	T	0.68	-12.9916	12.2975	0.54857	0.0:0.9032:0.0:0.0968	.	457	Q8IWD5	MFS6L_HUMAN	I	457	ENSP00000330051:V457I	ENSP00000330051:V457I	V	-	1	0	MFSD6L	8641795	0.957000	0.32711	0.747000	0.31113	0.694000	0.40290	4.122000	0.57910	2.531000	0.85337	0.563000	0.77884	GTC		0.612	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		35	128	0	0	0	0	35	128				
CNP	1267	broad.mit.edu	37	17	40117329	40117329	+	5'Flank	SNP	C	C	T	rs188595090		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:40117329C>T	ENST00000393892.3	+	0	0				CNP_ENST00000591072.1_5'Flank|TTC25_ENST00000591658.1_RNA|CNP_ENST00000472031.1_5'Flank|CNP_ENST00000393888.1_5'Flank	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		AGGAGGCCTTCGGGAGAATTA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18098	0.001		0.0	False		,,,				2504	0.0					uc002hyj.3		NA																	0				ovary(1)	1						c.(1846-1848)TCG>TTG		tetratricopeptide repeat domain 25							47.0	46.0	46.0					17																	40117329		1831	4084	5915	SO:0001631	upstream_gene_variant	83538					cytoplasm	protein binding	g.chr17:40117329C>T		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117329C>T	Exception_encountered					TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	p.S616L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			11	1936	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	616						Missense_Mutation	SNP	ENST00000393892.3	37	c.1847C>T	CCDS11414.2																																																																																				0.463	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			7	30	0	0	0	0	7	30				
ENPP7	339221	broad.mit.edu	37	17	77711840	77711840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:77711840G>A	ENST00000328313.5	+	5	1593	c.1372G>A	c.(1372-1374)Gca>Aca	p.A458T		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.A458T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCTGAGGTCGCATAACGCCC	0.642																																						uc002jxa.2		NA																	1	Substitution - Missense(1)		prostate(1)	central_nervous_system(2)|ovary(1)	3						c.(1372-1374)GCA>ACA		ectonucleotide pyrophosphatase/phosphodiesterase							79.0	71.0	74.0					17																	77711840		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711840G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1372G>A	17.37:g.77711840G>A	ENSP00000332656:p.Ala458Thr						p.A458T	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1392	+			458						Missense_Mutation	SNP	ENST00000328313.5	37	c.1372G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338292	0.24253	.	.	ENSG00000182156	ENST00000328313	T	0.74632	-0.86	2.43	-4.66	0.03329	.	2.375630	0.02566	N	0.097348	T	0.47451	0.1446	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.20042	-1.0287	10	0.25751	T	0.34	.	0.6033	0.00748	0.3767:0.1725:0.2761:0.1747	.	458	Q6UWV6	ENPP7_HUMAN	T	458	ENSP00000332656:A458T	ENSP00000332656:A458T	A	+	1	0	ENPP7	75326435	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-1.916000	0.01576	-1.087000	0.03081	-0.355000	0.07637	GCA		0.642	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	195	0	0	0	0	5	195				
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr18:3215034C>T	ENST00000356443.4	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63Q|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	63					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(187-189)CGG>CAG		myomesin 1 isoform a							28.0	33.0	31.0					18																	3215034		2029	4181	6210	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215034C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.188G>A	18.37:g.3215034C>T	ENSP00000348821:p.Arg63Gln					MYOM1_uc002klq.2_Missense_Mutation_p.R63Q	p.R63Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	522	-			63					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.188G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	1.575	-0.533125	0.04082	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.40225	1.17;1.18;1.04	4.95	-2.25	0.06888	.	1.110990	0.06703	N	0.771782	T	0.14874	0.0359	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.18967	-1.0320	10	0.18276	T	0.48	.	3.9864	0.09517	0.25:0.3096:0.0:0.4404	.	63;63	P52179-2;P52179	.;MYOM1_HUMAN	Q	63	ENSP00000348821:R63Q;ENSP00000383413:R63Q;ENSP00000261606:R63Q	ENSP00000261606:R63Q	R	-	2	0	MYOM1	3205034	0.178000	0.23122	0.005000	0.12908	0.004000	0.04260	0.106000	0.15354	-0.406000	0.07588	-0.254000	0.11334	CGG		0.687	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		11	33	0	0	0	0	11	33				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.2		NA																	12	Substitution - Missense(12)		endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	skin(3)	3						c.(1429-1431)CGG>CAG		ANKRD26-like family B, member 2							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.1_RNA	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	86	0	0	0	0	3	86				
LMNB2	84823	broad.mit.edu	37	19	2434446	2434446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:2434446C>T	ENST00000582871.1	-	7	1075	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.R350Q	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	330	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CAGCATCTTCCGGAACTTGTC	0.667																																						uc002lvy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(988-990)CGG>CAG		lamin B2							94.0	69.0	78.0					19																	2434446		2202	4300	6502	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434446C>T	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.989G>A	19.37:g.2434446C>T	ENSP00000462730:p.Arg330Gln					LMNB2_uc002lwa.1_Missense_Mutation_p.R350Q	p.R330Q	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1076	-		Hepatocellular(1079;0.137)	330			Rod.|Coil 2.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.989G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399709	0.83120	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.25	3.21	0.36854	Filament (1);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	N	0.19112	0.55	0.58432	D	0.999998	B	0.34290	0.447	B	0.30029	0.11	T	0.15723	-1.0427	9	0.49607	T	0.09	.	10.3431	0.43891	0.0:0.9017:0.0:0.0983	.	330	Q03252	LMNB2_HUMAN	Q	330	.	ENSP00000327054:R330Q	R	-	2	0	LMNB2	2385446	1.000000	0.71417	0.604000	0.28916	0.984000	0.73092	4.791000	0.62460	0.774000	0.33427	0.561000	0.74099	CGG		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		6	77	0	0	0	0	6	77				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					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.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						uc002mtb.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(1507-1509)CCT>CGT		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_uc010dym.1_Missense_Mutation_p.P346R	p.P503R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1651	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	100	0	0	0	0	3	100				
ZNF676	163223	broad.mit.edu	37	19	22362786	22362786	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:22362786T>A	ENST00000397121.2	-	3	2050	c.1733A>T	c.(1732-1734)tAt>tTt	p.Y578F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTTATGATAACTAACAGT	0.353																																						uc002nqs.1		NA																	0					0						c.(1732-1734)TAT>TTT		zinc finger protein 676							55.0	57.0	56.0					19																	22362786		2053	4236	6289	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362786T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1733A>T	19.37:g.22362786T>A	ENSP00000380310:p.Tyr578Phe						p.Y578F	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	2051	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	578			C2H2-type 15.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1733A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.742	-0.053283	0.07362	.	.	ENSG00000196109	ENST00000397121	T	0.01165	5.24	0.109	0.109	0.14578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.21194	0.64	0.09310	N	1	B	0.27498	0.18	B	0.23018	0.043	T	0.47749	-0.9093	8	0.66056	D	0.02	.	.	.	.	.	578	Q8N7Q3	ZN676_HUMAN	F	578	ENSP00000380310:Y578F	ENSP00000380310:Y578F	Y	-	2	0	ZNF676	22154626	0.000000	0.05858	0.127000	0.21898	0.126000	0.20510	-9.910000	0.00008	0.156000	0.19299	0.155000	0.16302	TAT		0.353	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		14	98	0	0	0	0	14	98				
GFPT1	2673	broad.mit.edu	37	2	69556851	69556851	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:69556851C>T	ENST00000357308.4	-	16	1740	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	GFPT1_ENST00000361060.5_Missense_Mutation_p.R503H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	521	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GATCTCTTTGCGTCTTTCTTG	0.408																																						uc002sfh.2		NA																	0				skin(1)	1						c.(1507-1509)CGC>CAC		glucosamine-fructose-6-phosphate							151.0	133.0	139.0					2																	69556851		2203	4300	6503	SO:0001583	missense	2673				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.chr2:69556851C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1562G>A	2.37:g.69556851C>T	ENSP00000349860:p.Arg521His						p.R503H	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			15	1687	-			521					Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1508G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282977	0.95489	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.71934	-0.61;-0.61	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86669	0.1909	10	0.52906	T	0.07	-10.1718	18.081	0.89441	0.0:1.0:0.0:0.0	.	503	Q06210-2	.	H	521;503	ENSP00000349860:R521H;ENSP00000354347:R503H	ENSP00000349860:R521H	R	-	2	0	GFPT1	69410355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.583000	0.82559	2.758000	0.94735	0.563000	0.77884	CGC		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				30	117	0	0	0	0	30	117				
TXNDC9	10190	broad.mit.edu	37	2	99949494	99949494	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:99949494C>T	ENST00000264255.3	-	2	435	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TXNDC9_ENST00000434323.1_Silent_p.Q60Q|TXNDC9_ENST00000409434.1_Silent_p.Q60Q	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	60					cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						CTTGTTTCTGCTGTTGAGCTT	0.388																																						uc002szz.2		NA																	0					0						c.(178-180)CAG>CAA		thioredoxin domain containing 9							179.0	152.0	161.0					2																	99949494		2203	4300	6503	SO:0001819	synonymous_variant	10190				cell redox homeostasis		protein binding	g.chr2:99949494C>T	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.180G>A	2.37:g.99949494C>T						TXNDC9_uc010yvp.1_Silent_p.Q77Q|TXNDC9_uc002taa.1_Silent_p.Q60Q	p.Q60Q	NM_005783	NP_005774	O14530	TXND9_HUMAN			2	371	-			60					B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Silent	SNP	ENST00000264255.3	37	c.180G>A	CCDS2044.1																																																																																				0.388	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		42	143	0	0	0	0	42	143				
NIFK	84365	broad.mit.edu	37	2	122485367	122485367	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:122485367T>A	ENST00000285814.4	-	7	887	c.815A>T	c.(814-816)gAa>gTa	p.E272V	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		272					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTGTATTTCTTCTTTTACACA	0.333																																						uc002tnk.2		NA																	0					0						c.(814-816)GAA>GTA		MKI67 interacting nucleolar phosphoprotein							117.0	119.0	119.0					2																	122485367		2203	4299	6502	SO:0001583	missense	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485367T>A																												ENST00000285814.4:c.815A>T	2.37:g.122485367T>A	ENSP00000285814:p.Glu272Val					uc002tnj.1_Intron	p.E272V	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			7	892	-			272					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.815A>T	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380988	0.82792	.	.	ENSG00000155438	ENST00000285814;ENST00000423105	T	0.19105	2.17	5.08	5.08	0.68730	.	0.464493	0.24172	N	0.040900	T	0.35856	0.0946	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.58172	0.834	T	0.04737	-1.0930	10	0.35671	T	0.21	-31.7349	11.5285	0.50595	0.0:0.0:0.0:1.0	.	272	Q9BYG3	MK67I_HUMAN	V	272;81	ENSP00000285814:E272V	ENSP00000285814:E272V	E	-	2	0	MKI67IP	122201837	0.994000	0.37717	0.993000	0.49108	0.936000	0.57629	2.323000	0.43823	2.041000	0.60428	0.454000	0.30748	GAA		0.333	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			32	151	0	0	0	0	32	151				
TTN	7273	broad.mit.edu	37	2	179399515	179399515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr2:179399515C>A	ENST00000591111.1	-	308	97128	c.96904G>T	c.(96904-96906)Gaa>Taa	p.E32302*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24878*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25003*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31375*|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E33943*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25070*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ATGATATTTTCTGGTCTAATG	0.368																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94123-94125)GAA>TAA		titin isoform N2-A							57.0	58.0	58.0					2																	179399515		1840	4089	5929	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399515C>A	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.96904G>T	2.37:g.179399515C>A	ENSP00000465570:p.Glu32302*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E25070*|TTN_uc010zfi.1_Nonsense_Mutation_p.E25003*|TTN_uc010zfj.1_Nonsense_Mutation_p.E24878*	p.E31375*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94347	-			32302					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.94123G>T		.	.	.	.	.	.	.	.	.	.	C	71	112.831798	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	31375;24878;25070;25003;24875	.	ENSP00000340554:E25070X	E	-	1	0	TTN	179107761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	63	1	0	2.13e-23	2.37e-23	48	63				
GZF1	64412	broad.mit.edu	37	20	23350773	23350773	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr20:23350773G>A	ENST00000338121.5	+	6	1908	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	GZF1_ENST00000542987.1_Missense_Mutation_p.D120N|GZF1_ENST00000377051.2_Missense_Mutation_p.D611N|GZF1_ENST00000544236.1_Missense_Mutation_p.D135N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	611					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTCATTGTAGATGGCTCGCC	0.418																																						uc010gdb.2		NA																	0				kidney(1)	1						c.(1831-1833)GAT>AAT		GDNF-inducible zinc finger protein 1							79.0	73.0	75.0					20																	23350773		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350773G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1831G>A	20.37:g.23350773G>A	ENSP00000338290:p.Asp611Asn					GZF1_uc002wsy.2_Missense_Mutation_p.D611N|GZF1_uc010zsq.1_Missense_Mutation_p.D135N|GZF1_uc010zsr.1_Missense_Mutation_p.D120N|GZF1_uc002wsz.2_Missense_Mutation_p.D611N	p.D611N	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			7	2005	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		611					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1831G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723600	0.89298	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10382	2.99;2.88;2.99;2.88	5.92	5.92	0.95590	.	0.100704	0.41001	D	0.000966	T	0.15305	0.0369	N	0.22421	0.69	0.53688	D	0.999972	D	0.59767	0.986	P	0.53266	0.722	T	0.06534	-1.0821	10	0.22706	T	0.39	.	19.3095	0.94179	0.0:0.0:1.0:0.0	.	611	Q9H116	GZF1_HUMAN	N	135;611;120;611	ENSP00000445458:D135N;ENSP00000338290:D611N;ENSP00000445118:D120N;ENSP00000366250:D611N	ENSP00000338290:D611N	D	+	1	0	GZF1	23298773	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.754000	0.74909	2.804000	0.96469	0.655000	0.94253	GAT		0.418	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		30	67	0	0	0	0	30	67				
FAM193A	8603	broad.mit.edu	37	4	2641515	2641515	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:2641515C>T	ENST00000324666.5	+	4	570	c.219C>T	c.(217-219)caC>caT	p.H73H	FAM193A_ENST00000545951.1_Silent_p.H73H|FAM193A_ENST00000502458.1_Silent_p.H73H|FAM193A_ENST00000382839.3_Silent_p.H73H|FAM193A_ENST00000505311.1_Silent_p.H73H	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	73										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATAATAAACACCTGTTTGAAA	0.398																																						uc010icl.2		NA																	0				ovary(3)	3						c.(217-219)CAC>CAT		hypothetical protein LOC8603							93.0	84.0	87.0					4																	2641515		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2641515C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.219C>T	4.37:g.2641515C>T						FAM193A_uc010ick.2_Silent_p.H273H|FAM193A_uc003gfd.2_Silent_p.H73H|FAM193A_uc011bvm.1_Silent_p.H73H|FAM193A_uc011bvn.1_Silent_p.H73H|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	p.H73H	NM_003704	NP_003695	P78312	F193A_HUMAN			4	570	+			73					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.219C>T	CCDS58875.1																																																																																				0.398	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		20	86	0	0	0	0	20	86				
PROM1	8842	broad.mit.edu	37	4	16035066	16035066	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:16035066G>A	ENST00000510224.1	-	5	618	c.370C>T	c.(370-372)Cct>Tct	p.P124S	PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Missense_Mutation_p.P124S|PROM1_ENST00000540805.1_Missense_Mutation_p.P124S|PROM1_ENST00000505450.1_Missense_Mutation_p.P115S|PROM1_ENST00000543373.1_Missense_Mutation_p.P115S|PROM1_ENST00000508167.1_Missense_Mutation_p.P115S|PROM1_ENST00000447510.2_Missense_Mutation_p.P124S			O43490	PROM1_HUMAN	prominin 1	124					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CCCACCAGAGGCATCAGAATA	0.428																																						uc003goo.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(370-372)CCT>TCT		prominin 1 isoform 1							63.0	58.0	60.0					4																	16035066		1881	4117	5998	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:16035066G>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.370C>T	4.37:g.16035066G>A	ENSP00000426809:p.Pro124Ser					PROM1_uc003gor.2_Missense_Mutation_p.P124S|PROM1_uc003gos.2_Missense_Mutation_p.P115S|PROM1_uc003got.2_Missense_Mutation_p.P124S|PROM1_uc003gou.2_Missense_Mutation_p.P115S|PROM1_uc003gop.2_Missense_Mutation_p.P115S|PROM1_uc003goq.3_Missense_Mutation_p.P115S|PROM1_uc010iec.1_Missense_Mutation_p.P2S	p.P124S	NM_006017	NP_006008	O43490	PROM1_HUMAN			4	582	-			124			Helical; (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.370C>T	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062480	0.93898	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0	D	0.84642	0.0696	10	0.56958	D	0.05	-8.1983	19.1469	0.93472	0.0:0.0:1.0:0.0	.	115;124;115;124;115;124	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	S	124;124;124;115;115;124;115	ENSP00000415481:P124S;ENSP00000438045:P124S;ENSP00000443620:P124S;ENSP00000426090:P115S;ENSP00000427346:P115S;ENSP00000426809:P124S;ENSP00000445526:P115S	ENSP00000415481:P124S	P	-	1	0	PROM1	15644164	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	9.044000	0.93805	2.531000	0.85337	0.563000	0.77884	CCT		0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	35	0	0	0	0	7	35				
EPHA5	2044	broad.mit.edu	37	4	66270139	66270139	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:66270139C>T	ENST00000273854.3	-	8	2343	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	EPHA5_ENST00000511294.1_Silent_p.V582V|EPHA5_ENST00000432638.2_Silent_p.V418V|EPHA5_ENST00000354839.4_Silent_p.V581V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	581					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATGACTCCCACTGTCACAG	0.473										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1741-1743)GTG>GTA		ephrin receptor EphA5 isoform a precursor							146.0	120.0	129.0					4																	66270139		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270139C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1743G>A	4.37:g.66270139C>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.V513V|EPHA5_uc003hcz.2_Silent_p.V581V|EPHA5_uc011cah.1_Silent_p.V582V|EPHA5_uc011cai.1_Silent_p.V582V|EPHA5_uc003hda.2_Silent_p.V582V	p.V581V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1936	-			581			Helical; (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1743G>A	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	100	0	0	0	0	10	100				
GC	2638	broad.mit.edu	37	4	72618359	72618359	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:72618359T>C	ENST00000273951.8	-	11	1614	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	GC_ENST00000504199.1_Missense_Mutation_p.E443G|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E424G	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	424	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTTTAGTCGCTCTGCCAGTCT	0.373																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1270-1272)GAG>GGG		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						163.0	139.0	147.0					4																	72618359		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72618359T>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1271A>G	4.37:g.72618359T>C	ENSP00000273951:p.Glu424Gly					GC_uc003hgd.2_Missense_Mutation_p.E302G|GC_uc010iie.2_Missense_Mutation_p.E424G|GC_uc010iif.2_Missense_Mutation_p.E443G	p.E424G	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		11	1424	-		all_hematologic(202;0.107)	424			Albumin 3.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1271A>G	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325704	0.41197	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.20332	2.08;2.08;2.08	5.33	4.16	0.48862	.	0.350509	0.30235	N	0.010088	T	0.24470	0.0593	L	0.60455	1.87	0.09310	N	1	P;P	0.40602	0.723;0.701	B;B	0.43536	0.216;0.423	T	0.13072	-1.0523	10	0.66056	D	0.02	.	7.8016	0.29178	0.0:0.0947:0.0:0.9053	.	443;424	D6RAK8;D6RF35	.;.	G	424;443;424	ENSP00000273951:E424G;ENSP00000421725:E443G;ENSP00000426683:E424G	ENSP00000273951:E424G	E	-	2	0	GC	72837223	0.021000	0.18746	0.017000	0.16124	0.238000	0.25445	0.985000	0.29578	0.988000	0.38734	0.477000	0.44152	GAG		0.373	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			18	157	0	0	0	0	18	157				
SHROOM3	57619	broad.mit.edu	37	4	77675899	77675899	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:77675899G>A	ENST00000296043.6	+	7	5216	c.4263G>A	c.(4261-4263)tcG>tcA	p.S1421S	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1421					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)			AGAGGGTCTCGCTGCCTCAGT	0.607																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(4261-4263)TCG>TCA		shroom family member 3 protein							61.0	49.0	53.0					4																	77675899		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:77675899G>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.4263G>A	4.37:g.77675899G>A						SHROOM3_uc003hkg.2_Silent_p.S1199S	p.S1421S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5216	+			1421					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4263G>A	CCDS3579.2																																																																																				0.607	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		13	61	0	0	0	0	13	61				
FAT1	2195	broad.mit.edu	37	4	187518256	187518256	+	Silent	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr4:187518256G>A	ENST00000441802.2	-	25	12647	c.12438C>T	c.(12436-12438)caC>caT	p.H4146H	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4146	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GATAGGAGCCGTGCGTGTTCT	0.587										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12436-12438)CAC>CAT		FAT tumor suppressor 1 precursor							50.0	53.0	52.0					4																	187518256		2112	4226	6338	SO:0001819	synonymous_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.chr4:187518256G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12438C>T	4.37:g.187518256G>A		HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Silent_p.H37H	p.H4146H	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	12626	-			4146			Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).			Silent	SNP	ENST00000441802.2	37	c.12438C>T	CCDS47177.1																																																																																				0.587	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	50	0	0	0	0	10	50				
KIF4B	285643	broad.mit.edu	37	5	154394335	154394335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr5:154394335C>G	ENST00000435029.4	+	1	1076	c.916C>G	c.(916-918)Cac>Gac	p.H306D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	306	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)			AGGTAACAGCCACACTCTTAT	0.438																																						uc010jih.1		NA																	0				ovary(1)	1						c.(916-918)CAC>GAC		kinesin family member 4B							186.0	186.0	186.0					5																	154394335		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.chr5:154394335C>G	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.916C>G	5.37:g.154394335C>G	ENSP00000387875:p.His306Asp						p.H306D	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1076	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	306			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.916C>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	9.067	0.995940	0.19043	.	.	ENSG00000226650	ENST00000435029	T	0.74421	-0.84	1.48	0.581	0.17407	Kinesin, motor domain (4);	.	.	.	.	T	0.64746	0.2626	L	0.50333	1.59	0.45634	D	0.998569	B	0.24651	0.108	B	0.29440	0.102	T	0.55970	-0.8056	9	0.41790	T	0.15	.	6.1049	0.20067	0.0:0.8147:0.0:0.1853	.	306	Q2VIQ3	KIF4B_HUMAN	D	306	ENSP00000387875:H306D	ENSP00000387875:H306D	H	+	1	0	KIF4B	154374528	1.000000	0.71417	0.886000	0.34754	0.657000	0.38888	1.915000	0.39976	0.202000	0.20498	-0.217000	0.12591	CAC		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			57	175	0	0	0	0	57	175				
EXOC2	55770	broad.mit.edu	37	6	564672	564672	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:564672C>T	ENST00000230449.4	-	15	1675	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	EXOC2_ENST00000448181.3_Missense_Mutation_p.V109M	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	514					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTAAGCTTCACCAGGGAGTGC	0.507																																						uc003mtd.2		NA																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(1540-1542)GTG>ATG		Sec5 protein							70.0	69.0	69.0					6																	564672		2203	4299	6502	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:564672C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1540G>A	6.37:g.564672C>T	ENSP00000230449:p.Val514Met					EXOC2_uc003mte.2_Missense_Mutation_p.V514M|EXOC2_uc011dho.1_Missense_Mutation_p.V109M	p.V514M	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	15	1674	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	514					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1540G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291818	0.59976	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.46451	0.87	5.39	5.39	0.77823	.	0.054764	0.64402	D	0.000001	T	0.38401	0.1039	M	0.61703	1.905	0.58432	D	0.999999	P	0.45474	0.859	P	0.45712	0.491	T	0.13176	-1.0519	10	0.30854	T	0.27	-13.1756	19.2193	0.93790	0.0:1.0:0.0:0.0	.	514	Q96KP1	EXOC2_HUMAN	M	514;109	ENSP00000230449:V514M	ENSP00000230449:V514M	V	-	1	0	EXOC2	509672	1.000000	0.71417	0.963000	0.40424	0.238000	0.25445	7.291000	0.78721	2.545000	0.85829	0.586000	0.80456	GTG		0.507	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		16	94	0	0	0	0	16	94				
PKHD1	5314	broad.mit.edu	37	6	51927390	51927390	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:51927390C>T	ENST00000371117.3	-	14	1320	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Missense_Mutation_p.G349R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	349					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCTGTACCCTGGGGTGGCT	0.478																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(1045-1047)GGG>AGG		fibrocystin isoform 1							169.0	157.0	161.0					6																	51927390		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51927390C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1045G>A	6.37:g.51927390C>T	ENSP00000360158:p.Gly349Arg					PKHD1_uc003pai.2_Missense_Mutation_p.G349R	p.G349R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			14	1321	-	Lung NSC(77;0.0605)		349			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1045G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467378	0.84533	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89270	-2.27;-2.49	5.65	4.73	0.59995	Cell surface receptor IPT/TIG (1);	0.000000	0.64402	D	0.000001	D	0.93370	0.7886	M	0.81341	2.54	0.33969	D	0.646582	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93725	0.7036	10	0.72032	D	0.01	.	15.1672	0.72837	0.0:0.8587:0.1412:0.0	.	349;349	P08F94-2;P08F94	.;PKHD1_HUMAN	R	349	ENSP00000360158:G349R;ENSP00000341097:G349R	ENSP00000341097:G349R	G	-	1	0	PKHD1	52035349	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.552000	0.53705	2.661000	0.90470	0.655000	0.94253	GGG		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		44	209	0	0	0	0	44	209				
ENPP3	5169	broad.mit.edu	37	6	132006590	132006590	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:132006590G>T	ENST00000414305.1	+	14	1535	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	ENPP3_ENST00000358229.5_Missense_Mutation_p.A403S|ENPP3_ENST00000357639.3_Missense_Mutation_p.A403S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCAT	0.363																																						uc003qcu.3		NA																	0				ovary(3)|skin(1)	4						c.(1207-1209)GCC>TCC		ectonucleotide pyrophosphatase/phosphodiesterase							133.0	151.0	145.0					6																	132006590		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132006590G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1207G>T	6.37:g.132006590G>T	ENSP00000406261:p.Ala403Ser					ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A403S	p.A403S	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1554	+	Breast(56;0.0753)		403			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1207G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498422	0.44455	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.71341	-0.56;-0.56;-0.56	5.69	2.8	0.32819	Alkaline-phosphatase-like, core domain (1);	0.387239	0.26776	N	0.022543	T	0.56232	0.1971	L	0.52011	1.625	0.21256	N	0.999749	P	0.40578	0.722	P	0.45506	0.483	T	0.54091	-0.8345	10	0.62326	D	0.03	-5.4331	13.7545	0.62928	0.0:0.0:0.5979:0.4021	.	403	O14638	ENPP3_HUMAN	S	403	ENSP00000406261:A403S;ENSP00000350265:A403S;ENSP00000350964:A403S	ENSP00000350265:A403S	A	+	1	0	ENPP3	132048283	0.310000	0.24527	0.053000	0.19242	0.949000	0.60115	1.614000	0.36911	0.275000	0.22094	0.591000	0.81541	GCC		0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			51	269	1	0	2.42e-19	2.66e-19	51	269				
SYNE1	23345	broad.mit.edu	37	6	152660381	152660381	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr6:152660381G>T	ENST00000367255.5	-	75	12947	c.12346C>A	c.(12346-12348)Caa>Aaa	p.Q4116K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3981K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4116K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4045K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4045K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4116					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)		CTTACCGTTTGCTCTGTTTGT	0.378										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12346-12348)CAA>AAA		spectrin repeat containing, nuclear envelope 1							130.0	122.0	125.0					6																	152660381		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.chr6:152660381G>T	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.12346C>A	6.37:g.152660381G>T	ENSP00000356224:p.Gln4116Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.Q4045K|SYNE1_uc003qou.3_Missense_Mutation_p.Q4116K|SYNE1_uc010kja.1_Missense_Mutation_p.Q821K	p.Q4116K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	12948	-		Ovarian(120;0.0955)	4116			Potential.|Cytoplasmic (Potential).		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.12346C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726778	0.48833	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.84	5.84	0.93424	.	0.097522	0.45606	D	0.000344	T	0.28896	0.0717	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.47604	0.836;0.836;0.836;0.898	B;B;B;B	0.44224	0.366;0.366;0.366;0.444	T	0.03807	-1.1002	10	0.16420	T	0.52	.	20.142	0.98061	0.0:0.0:1.0:0.0	.	4116;4116;4116;4045	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4116;4045;4116;4045;3981	ENSP00000356224:Q4116K;ENSP00000396024:Q4045K;ENSP00000265368:Q4116K;ENSP00000390975:Q4045K;ENSP00000341887:Q3981K	ENSP00000265368:Q4116K	Q	-	1	0	SYNE1	152702074	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.952000	0.75989	2.754000	0.94517	0.655000	0.94253	CAA		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	70	1	0	2e-19	2.21e-19	32	70				
RBAK	57786	broad.mit.edu	37	7	5104738	5104738	+	Silent	SNP	T	T	C			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5104738T>C	ENST00000353796.3	+	6	1975	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.L551L	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	551	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAATGAGTTGTCATACTA	0.388																																						uc010kss.1		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1651-1653)TTG>CTG		RB-associated KRAB repressor							62.0	62.0	62.0					7																	5104738		2203	4299	6502	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104738T>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1651T>C	7.37:g.5104738T>C						LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.L551L	p.L551L	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1975	+		Ovarian(82;0.0175)	551			Interaction with AR.|C2H2-type 11.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.1651T>C	CCDS5337.1																																																																																				0.388	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		16	112	0	0	0	0	16	112				
RNF216	54476	broad.mit.edu	37	7	5662726	5662726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:5662726G>A	ENST00000425013.2	-	17	2590	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	RNF216_ENST00000389902.3_Missense_Mutation_p.P846L|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	789	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGGTTCTGCGGAACGGGCCT	0.627																																						uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(2365-2367)CCG>CTG		ring finger protein 216 isoform b							50.0	55.0	53.0					7																	5662726		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662726G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2366C>T	7.37:g.5662726G>A	ENSP00000404602:p.Pro789Leu					RNF216_uc010ksz.1_Missense_Mutation_p.P411L|RNF216_uc010kta.1_Missense_Mutation_p.P411L|RNF216_uc011jwj.1_Missense_Mutation_p.P411L|RNF216_uc003sox.1_Missense_Mutation_p.P846L	p.P789L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2556	-		Ovarian(82;0.07)	789			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2366C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402615	0.62288	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.50277	0.76;0.75	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67205	-0.5729	10	0.87932	D	0	-11.6657	16.1032	0.81201	0.0:0.0:1.0:0.0	.	789;846	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	L	789;846;601	ENSP00000404602:P789L;ENSP00000374552:P846L	ENSP00000374552:P846L	P	-	2	0	RNF216	5629252	1.000000	0.71417	0.694000	0.30210	0.287000	0.27160	6.724000	0.74747	2.545000	0.85829	0.561000	0.74099	CCG		0.627	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		13	75	0	0	0	0	13	75				
SRRT	51593	broad.mit.edu	37	7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr7:100484755C>T	ENST00000347433.4	+	15	2067	c.1909C>T	c.(1909-1911)Ccc>Tcc	p.P637S	SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S|SRRT_ENST00000388793.4_Missense_Mutation_p.P636S			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	637					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(1909-1911)CCC>TCC		arsenate resistance protein 2 isoform a							151.0	139.0	144.0					7																	100484755		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484755C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1909C>T	7.37:g.100484755C>T	ENSP00000314491:p.Pro637Ser					SRRT_uc010lhl.1_Missense_Mutation_p.P636S|SRRT_uc003uxa.2_Missense_Mutation_p.P636S|SRRT_uc003uwz.2_Missense_Mutation_p.P637S	p.P637S	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			16	2177	+			637					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1909C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594904	0.86953	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.23	5.23	0.72850	Arsenite-resistance protein 2 (1);	0.052808	0.85682	D	0.000000	T	0.80869	0.4706	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.998;0.999	D	0.83939	0.0310	9	0.87932	D	0	.	16.2709	0.82618	0.0:1.0:0.0:0.0	.	636;636;637;637	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	S	637;636;2;636;637;267	.	ENSP00000344670:P2S	P	+	1	0	SRRT	100322691	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.200000	0.77838	2.424000	0.82194	0.462000	0.41574	CCC		0.572	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		5	283	0	0	0	0	5	283				
CHD7	55636	broad.mit.edu	37	8	61765872	61765872	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:61765872C>T	ENST00000423902.2	+	31	7067	c.6588C>T	c.(6586-6588)acC>acT	p.T2196T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2196	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGAAGAAACCGATGGCAGCG	0.532																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6586-6588)ACC>ACT		chromodomain helicase DNA binding protein 7							24.0	26.0	25.0					8																	61765872		1973	4163	6136	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765872C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6588C>T	8.37:g.61765872C>T							p.T2196T	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	7065	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2196			Glu-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.6588C>T	CCDS47865.1																																																																																				0.532	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	60	0	0	0	0	8	60				
DCAF4L2	138009	broad.mit.edu	37	8	88885104	88885104	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr8:88885104C>T	ENST00000319675.3	-	1	1192	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	366										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGAAGGCCACACTGGGAATG	0.592																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(1096-1098)GTG>ATG		WD repeat domain 21C							69.0	76.0	74.0					8																	88885104		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885104C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1096G>A	8.37:g.88885104C>T	ENSP00000316496:p.Val366Met						p.V366M	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1193	-			366						Missense_Mutation	SNP	ENST00000319675.3	37	c.1096G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635166	0.67130	.	.	ENSG00000176566	ENST00000319675	T	0.57273	0.41	1.37	0.319	0.15873	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.062767	0.64402	D	0.000006	T	0.66499	0.2795	M	0.77616	2.38	0.33527	D	0.593197	D	0.89917	1.0	D	0.91635	0.999	T	0.70706	-0.4798	10	0.87932	D	0	.	6.831	0.23911	0.0:0.7048:0.2951:0.0	.	366	Q8NA75	DC4L2_HUMAN	M	366	ENSP00000316496:V366M	ENSP00000316496:V366M	V	-	1	0	DCAF4L2	88954220	1.000000	0.71417	0.286000	0.24833	0.829000	0.46940	3.346000	0.52190	-0.123000	0.11745	0.467000	0.42956	GTG		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		19	183	0	0	0	0	19	183				
FAM214B	80256	broad.mit.edu	37	9	35107972	35107972	+	Silent	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr9:35107972C>T	ENST00000378561.1	-	2	3355	c.300G>A	c.(298-300)ggG>ggA	p.G100G	FAM214B_ENST00000605244.1_Silent_p.G100G|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Silent_p.G100G|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Silent_p.G100G|FAM214B_ENST00000603301.1_Silent_p.G100G|FAM214B_ENST00000488109.2_Silent_p.G100G|FAM214B_ENST00000378554.2_Silent_p.G100G			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	100						nucleus (GO:0005634)											GGCCTAAGAGCCCCACAGTAG	0.622																																						uc003zwl.2		NA																	0				ovary(2)	2						c.(298-300)GGG>GGA		hypothetical protein LOC80256							47.0	52.0	50.0					9																	35107972		2203	4300	6503	SO:0001819	synonymous_variant	80256					nucleus		g.chr9:35107972C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.300G>A	9.37:g.35107972C>T						KIAA1539_uc003zwm.2_Silent_p.G100G|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Silent_p.G100G|KIAA1539_uc003zwp.1_Silent_p.G100G|KIAA1539_uc010mkk.1_Intron	p.G100G	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	625	-	all_epithelial(49;0.217)		100					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	ENST00000378561.1	37	c.300G>A	CCDS6578.1																																																																																				0.622	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		21	234	0	0	0	0	21	234				
ZNF883	169834	broad.mit.edu	37	9	115759475	115759475	+	lincRNA	SNP	A	A	G			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr9:115759475A>G	ENST00000427548.1	-	0	4638							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAAGACATCACCACACTTAG	0.398																																						uc011lwy.1		NA																	0					0						c.(1063-1065)GGT>GGC		hypothetical protein LOC169834							112.0	120.0	117.0					9																	115759475		2073	4233	6306			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759475A>G	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759475A>G							p.G355G	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	2304	-			355			C2H2-type 13.			Silent	SNP	ENST00000427548.1	37	c.1065T>C																																																																																					0.398	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		11	69	0	0	0	0	11	69				
NELFB	25920	broad.mit.edu	37	9	140161436	140161436	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr9:140161436C>T	ENST00000343053.4	+	9	1473	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	379					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ATGCTCATGTCCTTCCTGGTG	0.587																																						uc004cmm.3		NA																	0					0						c.(1135-1137)TCC>TTC		cofactor of BRCA1							94.0	64.0	75.0					9																	140161436		2203	4300	6503	SO:0001583	missense	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140161436C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1136C>T	9.37:g.140161436C>T	ENSP00000339495:p.Ser379Phe						p.S379F	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	9	1339	+	all_cancers(76;0.0926)		379					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1136C>T	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570416	0.65765	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.45	5.45	0.79879	.	0.159392	0.56097	D	0.000021	T	0.58018	0.2093	M	0.62723	1.935	0.53688	D	0.999975	P	0.37612	0.602	B	0.39617	0.305	T	0.63102	-0.6712	9	0.66056	D	0.02	-55.3157	13.6271	0.62170	0.0:0.8444:0.1556:0.0	.	379	Q8WX92	NELFB_HUMAN	F	379	.	ENSP00000339495:S379F	S	+	2	0	COBRA1	139281257	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.797000	0.69087	2.567000	0.86603	0.579000	0.79373	TCC		0.587	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		12	65	0	0	0	0	12	65				
SZT2	23334	broad.mit.edu	37	1	43900933	43900933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr1:43900933delT	ENST00000562955.1	+	41	5796	c.5796delT	c.(5794-5796)agtfs	p.S1932fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.S1090fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1989					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						TGGCCGAGAGTGAAGAAGATC	0.572																																						uc001cjk.1		NA																	0					0						c.(3268-3270)AGTfs		hypothetical protein LOC23334							138.0	120.0	126.0					1																	43900933		2203	4300	6503	SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43900933delT	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.5796delT	1.37:g.43900933delT	ENSP00000457168:p.Ser1932fs						p.S1090fs	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			27	3732	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1989					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.3270delT	CCDS30694.2																																																																																				0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	138	NA	NA	NA	NA	16	138	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43012716	43012719	+	Frame_Shift_Del	DEL	TGCC	TGCC	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr17:43012716_43012719delTGCC	ENST00000593135.1	-	3	476_479	c.379_382delGGCA	c.(379-384)ggcatcfs	p.GI127fs	KIF18B_ENST00000587309.1_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000590129.1_Frame_Shift_Del_p.GI136fs|KIF18B_ENST00000438933.2_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000339151.4_Frame_Shift_Del_p.GI127fs	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	136	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGGTACATGATGCCGGGGTCCCCC	0.637																																						uc010wji.1		NA																	0				ovary(2)	2						c.(379-384)GGCATCfs		kinesin family member 18B																																				SO:0001589	frameshift_variant	146909							g.chr17:43012716_43012719delTGCC		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.379_382delGGCA	17.37:g.43012716_43012719delTGCC	ENSP00000465992:p.Gly127fs					KIF18B_uc002iht.2_Frame_Shift_Del_p.G127fs|KIF18B_uc010wjh.1_Frame_Shift_Del_p.G127fs	p.G127fs	NM_001080443	NP_001073912					3	480_483	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Frame_Shift_Del	DEL	ENST00000593135.1	37	c.379_382delGGCA	CCDS45709.2																																																																																				0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		9	58	NA	NA	NA	NA	9	58	---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53208627	53208638	+	In_Frame_Del	DEL	TATGAATTCTAG	TATGAATTCTAG	-	rs151210254		TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr19:53208627_53208638delTATGAATTCTAG	ENST00000319783.1	-	7	1986_1997	c.1670_1681delCTAGAATTCATA	c.(1669-1683)actagaattcatagt>agt	p.TRIH557del	ZNF611_ENST00000602162.1_In_Frame_Del_p.TRIH488del|ZNF611_ENST00000453741.2_In_Frame_Del_p.TRIH488del|ZNF611_ENST00000543227.1_In_Frame_Del_p.TRIH557del|ZNF611_ENST00000540744.1_In_Frame_Del_p.TRIH557del|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_In_Frame_Del_p.TRIH488del	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTCTCTCCACTATGAATTCTAGTATGTTTTGC	0.406																																						uc002pzz.2		NA																	0				ovary(1)	1						c.(1669-1683)ACTAGAATTCATAGT>AGT		zinc finger protein 611 isoform a																																				SO:0001651	inframe_deletion	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208627_53208638delTATGAATTCTAG	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1670_1681delCTAGAATTCATA	19.37:g.53208627_53208638delTATGAATTCTAG	ENSP00000322427:p.Thr557_His560del					ZNF611_uc010eqc.2_In_Frame_Del_p.TRIH487del|ZNF611_uc010ydo.1_In_Frame_Del_p.TRIH487del|ZNF611_uc010ydr.1_In_Frame_Del_p.TRIH488del|ZNF611_uc010ydp.1_In_Frame_Del_p.TRIH557del|ZNF611_uc010ydq.1_In_Frame_Del_p.TRIH557del|ZNF611_uc002qaa.3_In_Frame_Del_p.TRIH487del	p.TRIH557del	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1987_1998	-			557_560			C2H2-type 12.		B3KRD5|Q69YG9	In_Frame_Del	DEL	ENST00000319783.1	37	c.1670_1681delCTAGAATTCATA	CCDS12855.1																																																																																				0.406	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		62	403	NA	NA	NA	NA	62	403	---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29960672	29960672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4737-01A-01D-1434-08	TCGA-CN-4737-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6857bb-f20f-4ac9-9c2c-cb83c5387a74	5afbe444-612c-47f3-bec3-96ceabdf9d1c	g.chr20:29960672delA	ENST00000253381.2	+	2	104	c.71delA	c.(70-72)gaafs	p.E24fs		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	24					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATAGTGGTGAAAAAAAATGC	0.398																																						uc002wvr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(70-72)GAAfs		beta-defensin 118 precursor				2,5,4257		0,0,2,0,5,2125	73.0	72.0	72.0			-3.9	0.0	20		72	1,3,8250		0,0,1,0,3,4123	no	codingComplex	DEFB118	NM_054112.2		0,0,3,0,8,6248	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.1642,0.0879			29960672	3,8,12507	2203	4300	6503	SO:0001589	frameshift_variant	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960672delA	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.71delA	20.37:g.29960672delA	ENSP00000253381:p.Glu24fs						p.E24fs	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	97	+	all_hematologic(12;0.158)		24					Q17RC4|Q8N691|Q9NUH0	Frame_Shift_Del	DEL	ENST00000253381.2	37	c.71delA	CCDS13177.1																																																																																				0.398	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		15	70	NA	NA	NA	NA	15	70	---	---	---	---
