#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAJC5G	285126	broad.mit.edu	37	2	27501192	27501192	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr2:27501192C>T	ENST00000296097.3	+	5	930	c.512C>T	c.(511-513)cCa>cTa	p.P171L	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P155L|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P171L|DNAJC5G_ENST00000406962.1_Nonsense_Mutation_p.Q84*	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	171						membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCAGCCTCCAAGGTCAGGT	0.478																																						ENST00000406962.1																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(250-252)Caa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							110.0	94.0	100.0					2																	27501192		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27501192C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.512C>T	2.37:g.27501192C>T	ENSP00000296097:p.Pro171Leu					DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P171L|DNAJC5G_ENST00000296097.3_Missense_Mutation_p.P171L|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P155L	p.Q84*			Q8N7S2	DNJ5G_HUMAN			3	415	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Nonsense_Mutation	SNP	ENST00000296097.3	37	c.250C>T	CCDS1744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.67|13.67	2.305346|2.305346	0.40795|0.40795	.|.	.|.	ENSG00000163793|ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433|ENST00000406962	T;T;T|.	0.57273|.	1.31;1.31;0.41|.	5.47|5.47	1.28|1.28	0.21552|0.21552	.|.	4.627870|.	0.00678|.	N|.	0.000665|.	T|.	0.41488|.	0.1161|.	L|L	0.29908|0.29908	0.895|0.895	0.45995|0.45995	A|A	0.998808|0.998808	P|.	0.34462|.	0.454|.	B|.	0.24394|.	0.053|.	T|.	0.54417|.	-0.8297|.	9|.	0.66056|0.87932	D|D	0.02|0	.|.	9.4875|9.4875	0.38940|0.38940	0.1542:0.3964:0.4495:0.0|0.1542:0.3964:0.4495:0.0	.|.	171|.	Q8N7S2|.	DNJ5G_HUMAN|.	L|X	171;171;155|84	ENSP00000296097:P171L;ENSP00000384305:P171L;ENSP00000385829:P155L|.	ENSP00000296097:P171L|ENSP00000385533:Q84X	P|Q	+|+	2|1	0|0	DNAJC5G|DNAJC5G	27354696|27354696	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.044000|0.044000	0.14063|0.14063	-0.014000|-0.014000	0.12656|0.12656	0.241000|0.241000	0.21283|0.21283	0.609000|0.609000	0.83330|0.83330	CCA|CAA		0.478	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		13	19	0	0	0	1	0	13	19				
RP11-464F9.1	0	broad.mit.edu	37	10	75487081	75487081	+	RNA	SNP	C	C	T	rs7099599	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr10:75487081C>T	ENST00000399449.3	-	0	396				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCTCTGATCTCGGTCAACTTC	0.517													.|||	674	0.134585	0.0893	0.1081	5008	,	,		17305	0.1587		0.1332	False		,,,				2504	0.1912					ENST00000399449.3																			0																																																			0							g.chr10:75487081C>T																													10.37:g.75487081C>T						BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA								0	396	-									RNA	SNP	ENST00000399449.3	37																																																																																						0.517	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000048674.2			5	112	0	0	0	1	0	5	112				
KLHDC2	23588	broad.mit.edu	37	14	50244662	50244662	+	Missense_Mutation	SNP	T	T	C	rs148686027	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr14:50244662T>C	ENST00000298307.5	+	4	1318	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	KLHDC2_ENST00000557247.1_Missense_Mutation_p.Y153H|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Y153H	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	153						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTCTGGGTATATAAAAACAA	0.403													T|||	20	0.00399361	0.0	0.0	5008	,	,		19174	0.0198		0.0	False		,,,				2504	0.0					ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(457-459)Tat>Cat		kelch domain containing 2							105.0	100.0	102.0					14																	50244662		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50244662T>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.457T>C	14.37:g.50244662T>C	ENSP00000298307:p.Tyr153His					KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.Y153H|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Y153H	p.Y153H	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			4	1318	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		153					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.457T>C	CCDS9693.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	T	12.86	2.065761	0.36470	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.67171	-0.25;-0.25;-0.25	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.058083	0.64402	D	0.000001	T	0.33847	0.0877	N	0.16037	0.36	0.49915	D	0.999837	B;B;B	0.14012	0.009;0.005;0.003	B;B;B	0.17979	0.02;0.011;0.001	T	0.35450	-0.9788	10	0.21540	T	0.41	-22.1666	15.2194	0.73299	0.0:0.0:0.0:1.0	.	153;153;153	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	H	153	ENSP00000298307:Y153H;ENSP00000451439:Y153H;ENSP00000450658:Y153H	ENSP00000298307:Y153H	Y	+	1	0	KLHDC2	49314412	0.997000	0.39634	0.997000	0.53966	0.996000	0.88848	2.938000	0.48987	2.194000	0.70268	0.533000	0.62120	TAT		0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			5	53	0	0	0	1	0	5	53				
MFSD4	148808	broad.mit.edu	37	1	205554106	205554106	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:205554106C>T	ENST00000367147.4	+	5	1055	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTTCATGACGGATGGGTTG	0.587											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(961-963)aCg>aTg		major facilitator superfamily domain containing 4							93.0	90.0	91.0					1																	205554106		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205554106C>T	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.962C>T	1.37:g.205554106C>T	ENSP00000356115:p.Thr321Met		OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2153	MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M	p.T321M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		5	1055	+	Breast(84;0.07)		321					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.962C>T	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288670	0.80914	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	T;T;T	0.80909	0.37;0.37;-1.43	5.87	5.87	0.94306	Major facilitator superfamily domain, general substrate transporter (1);	0.044161	0.85682	D	0.000000	D	0.89924	0.6856	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.991;0.997	D	0.89697	0.3902	10	0.66056	D	0.02	-19.2058	19.1458	0.93467	0.0:1.0:0.0:0.0	.	266;234;321	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	M	321;321;234	ENSP00000356115:T321M;ENSP00000445329:T321M;ENSP00000440183:T234M	ENSP00000356115:T321M	T	+	2	0	MFSD4	203820729	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.444000	0.60001	2.941000	0.99782	0.655000	0.94253	ACG		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		42	64	0	0	0	1	0	42	64				
SRP54-AS1	100506157	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448													C|||	1527	0.304912	0.2837	0.2824	5008	,	,		21625	0.37		0.2704	False		,,,				2504	0.318					ENST00000556355.1																			0																																																			0							g.chr14:35409214T>C																													14.37:g.35409214T>C						RP11-85K15.2_ENST00000555015.1_RNA								0	257	-									RNA	SNP	ENST00000556355.1	37																																																																																						0.448	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			4	65	0	0	0	1	0	4	65				
REST	5978	broad.mit.edu	37	4	57797761	57797761	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr4:57797761A>G	ENST00000309042.7	+	4	3051	c.2737A>G	c.(2737-2739)Atc>Gtc	p.I913V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	913					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGCTGCTAATATCAACGAATC	0.413																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2737-2739)Atc>Gtc		RE1-silencing transcription factor							67.0	68.0	68.0					4																	57797761		2202	4300	6502	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797761A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2737A>G	4.37:g.57797761A>G	ENSP00000311816:p.Ile913Val						p.I913V	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	3051	+	Glioma(25;0.08)|all_neural(26;0.181)		913					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2737A>G	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	0.097	-1.157343	0.01686	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07021	3.23	5.23	-10.5	0.00291	.	3.207220	0.00868	N	0.001993	T	0.05547	0.0146	L	0.41236	1.265	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.0	T	0.23261	-1.0193	10	0.37606	T	0.19	3.0944	1.3861	0.02240	0.141:0.1983:0.2897:0.3709	.	890;913	F8WAN5;Q13127	.;REST_HUMAN	V	913;890	ENSP00000311816:I913V	ENSP00000311816:I913V	I	+	1	0	REST	57492518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.209000	0.03002	-3.388000	0.00173	-0.912000	0.02778	ATC		0.413	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		23	47	0	0	0	1	0	23	47				
CSDE1	7812	broad.mit.edu	37	1	115276367	115276368	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:115276367_115276368GT>AA	ENST00000358528.4	-	9	1248_1249	c.822_823AC>TT	c.(820-825)gtACcc>gtTTcc	p.P275S	CSDE1_ENST00000534699.1_Missense_Mutation_p.P275S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P290S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P244S|CSDE1_ENST00000438362.2_Missense_Mutation_p.P321S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P244S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P145S	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	275					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTACTGGGTACTTTTGGGA	0.347																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(961-963)Ccc>Tcc|c.(958-960)gtA>gtT		cold shock domain containing E1, RNA-binding																																				SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276367G>A|g.chr1:115276368T>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.822_823delinsAA	1.37:g.115276367_115276368delinsAA	ENSP00000351329:p.Pro275Ser					CSDE1_ENST00000358528.4_Missense_Mutation_p.P275S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P244S|CSDE1_ENST00000534699.1_Missense_Mutation_p.P275S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P290S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P145S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P244S|CSDE1_ENST00000358528.4_Silent_p.V274V|CSDE1_ENST00000261443.5_Silent_p.V243V|CSDE1_ENST00000534699.1_Silent_p.V274V|CSDE1_ENST00000369530.1_Silent_p.V289V|CSDE1_ENST00000530886.1_Silent_p.V144V|CSDE1_ENST00000339438.6_Silent_p.V243V	p.P321S|p.V320V	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1339|1338	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	275|274			CSD 4; truncated.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation|Silent	SNP	ENST00000358528.4	37	c.961C>T|c.960A>T	CCDS30812.1																																																																																				0.347	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		11	18|17	0	0	0	1	0	11	17				
PGM5	5239	broad.mit.edu	37	9	71098922	71098922	+	Silent	SNP	T	T	C	rs377710211	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr9:71098922T>C	ENST00000396396.1	+	9	1666	c.1437T>C	c.(1435-1437)ttT>ttC	p.F479F		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	479					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGGATAGTTTTGAATACGTGG	0.517													T|||	4	0.000798722	0.0	0.0	5008	,	,		20559	0.004		0.0	False		,,,				2504	0.0					ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1435-1437)ttT>ttC		phosphoglucomutase 5							166.0	140.0	149.0					9																	71098922		2203	4300	6503	SO:0001819	synonymous_variant	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71098922T>C	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1437T>C	9.37:g.71098922T>C							p.F479F	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			9	1666	+			479					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	ENST00000396396.1	37	c.1437T>C	CCDS6622.2																																																																																				0.517	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		4	91	0	0	0	1	0	4	91				
FOXK2	3607	broad.mit.edu	37	17	80529730	80529730	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr17:80529730C>T	ENST00000335255.5	+	4	1067	c.893C>T	c.(892-894)gCg>gTg	p.A298V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	298					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TACAGGACTGCGGACAAGGGC	0.488																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(892-894)gCg>gTg		forkhead box K2							61.0	55.0	57.0					17																	80529730		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80529730C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.893C>T	17.37:g.80529730C>T	ENSP00000335677:p.Ala298Val						p.A298V	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		4	1067	+	Breast(20;0.00106)|all_neural(118;0.0952)		298					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.893C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719891	0.68844	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000531030;ENST00000526383	D;D;D	0.95690	-3.78;-3.78;-3.78	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.76938	2.355	0.80722	D	1	D;P;B	0.58970	0.984;0.466;0.411	P;B;B	0.49047	0.599;0.087;0.064	D	0.96644	0.9476	10	0.72032	D	0.01	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	298;298;298	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	V	294;298;298;109;178	ENSP00000335677:A298V;ENSP00000433167:A109V;ENSP00000432663:A178V	ENSP00000334321:A298V	A	+	2	0	FOXK2	78123019	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.870000	0.69620	2.722000	0.93159	0.650000	0.86243	GCG		0.488	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		13	23	0	0	0	1	0	13	23				
SPATA31A6	389730	broad.mit.edu	37	9	43627394	43627394	+	Silent	SNP	G	G	A	rs201562289	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr9:43627394G>A	ENST00000332857.6	-	4	1321	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	431					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.A431A(1)									CAGTTACCCAGGCGTTAGCCA	0.488													G|||	15	0.00299521	0.0008	0.0	5008	,	,		15035	0.0139		0.0	False		,,,				2504	0.0					ENST00000332857.6																			1	Substitution - coding silent(1)	p.A431A(1)	stomach(1)								c.(1291-1293)gcC>gcT		SPATA31 subfamily A, member 6							12.0	14.0	13.0					9																	43627394		612	1519	2131	SO:0001819	synonymous_variant	389730							g.chr9:43627394G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1293C>T	9.37:g.43627394G>A							p.A431A	NM_001145196.1	NP_001138668.1					4	1321	-									Silent	SNP	ENST00000332857.6	37	c.1293C>T	CCDS47973.1																																																																																				0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	149	0	0	0	1	0	6	149				
CCDC13	152206	broad.mit.edu	37	3	42799804	42799804	+	Missense_Mutation	SNP	G	G	A	rs113601691	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr3:42799804G>A	ENST00000310232.6	-	2	117	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	12										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AACTGGAGCCGCAAAGTGTTC	0.507													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0					ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(34-36)Cgg>Tgg		coiled-coil domain containing 13		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	142.0	117.0	125.0		34	-2.1	0.6	3	dbSNP_132	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC13	NM_144719.3	101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	12/716	42799804	3,13003	2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799804G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.34C>T	3.37:g.42799804G>A	ENSP00000309836:p.Arg12Trp					CCDC13_ENST00000435327.2_5'UTR	p.R12W	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			2	117	-			12						Missense_Mutation	SNP	ENST00000310232.6	37	c.34C>T	CCDS2705.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.80	3.222441	0.58668	4.54E-4	1.16E-4	ENSG00000244607	ENST00000310232	T	0.34275	1.37	4.82	-2.11	0.07187	.	0.118259	0.51477	D	0.000084	T	0.52208	0.1720	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50039	-0.8874	10	0.72032	D	0.01	.	10.4536	0.44537	0.0755:0.0:0.2007:0.7238	.	12;12;12	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	W	12	ENSP00000309836:R12W	ENSP00000309836:R12W	R	-	1	2	CCDC13	42774808	1.000000	0.71417	0.629000	0.29254	0.734000	0.41952	0.702000	0.25631	-0.708000	0.05015	0.563000	0.77884	CGG		0.507	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		3	49	0	0	0	1	0	3	49				
STEAP3	55240	broad.mit.edu	37	2	120003514	120003514	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr2:120003514G>A	ENST00000354888.5	+	3	946	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	STEAP3_ENST00000393106.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393108.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393110.2_Missense_Mutation_p.V158I|STEAP3_ENST00000425223.2_Missense_Mutation_p.V148I|STEAP3_ENST00000450943.2_Missense_Mutation_p.V148I|STEAP3_ENST00000409811.1_Missense_Mutation_p.V148I|STEAP3_ENST00000393107.2_Missense_Mutation_p.V148I|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	148					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGCCTTCAATGTCATCTCTGC	0.522																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(442-444)Gtc>Atc		STEAP family member 3, metalloreductase							96.0	86.0	89.0					2																	120003514		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003514G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.442G>A	2.37:g.120003514G>A	ENSP00000346961:p.Val148Ile					STEAP3_ENST00000393107.2_Missense_Mutation_p.V148I|STEAP3_ENST00000450943.2_Missense_Mutation_p.V148I|STEAP3_ENST00000409811.1_Missense_Mutation_p.V148I|STEAP3_ENST00000425223.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393110.2_Missense_Mutation_p.V158I|STEAP3_ENST00000393108.2_Missense_Mutation_p.V148I|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.V148I	p.V148I	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	946	+			148					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.442G>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649815	0.87958	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.2	5.2	0.72013	NAD(P)-binding domain (1);	0.143266	0.48286	D	0.000185	T	0.35068	0.0919	M	0.77103	2.36	0.34273	D	0.681191	P;P;B	0.49696	0.927;0.888;0.305	P;P;B	0.51193	0.662;0.63;0.139	T	0.49204	-0.8964	9	.	.	.	-51.6546	17.8995	0.88899	0.0:0.0:1.0:0.0	.	148;158;148	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	I	148;148;148;158;148;148;148;148	ENSP00000376820:V148I;ENSP00000346961:V148I;ENSP00000396873:V148I;ENSP00000376822:V158I;ENSP00000376818:V148I;ENSP00000386510:V148I;ENSP00000376819:V148I;ENSP00000396214:V148I	.	V	+	1	0	STEAP3	119719984	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	5.291000	0.65667	2.693000	0.91896	0.655000	0.94253	GTC		0.522	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		30	61	0	0	0	1	0	30	61				
PADI1	29943	broad.mit.edu	37	1	17565186	17565186	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:17565186G>A	ENST00000375471.4	+	13	1626	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	PADI1_ENST00000413717.2_Missense_Mutation_p.E69K|PADI1_ENST00000537499.1_Missense_Mutation_p.E69K|PADI1_ENST00000536552.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	512					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGTTATGGGGAGGCAGCCCA	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1534-1536)Gag>Aag		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						43.0	40.0	41.0					1																	17565186		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17565186G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1534G>A	1.37:g.17565186G>A	ENSP00000364620:p.Glu512Lys					PADI1_ENST00000536552.1_5'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.E69K|PADI1_ENST00000413717.2_Missense_Mutation_p.E69K	p.E512K	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	13	1626	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	512					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1534G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	5.970	0.362948	0.11296	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717	T;T;T	0.22336	1.96;1.96;1.96	4.27	1.08	0.20341	Protein-arginine deiminase, C-terminal (1);	0.740822	0.13068	N	0.416330	T	0.18841	0.0452	L	0.51422	1.61	0.22240	N	0.99926	B;B	0.12013	0.003;0.005	B;B	0.18263	0.021;0.015	T	0.21586	-1.0241	10	0.37606	T	0.19	-22.3061	9.0964	0.36642	0.3014:0.0:0.6986:0.0	.	69;512	B4DPX6;Q9ULC6	.;PADI1_HUMAN	K	512;69;69	ENSP00000364620:E512K;ENSP00000444032:E69K;ENSP00000396697:E69K	ENSP00000364620:E512K	E	+	1	0	PADI1	17437773	0.244000	0.23889	0.737000	0.30932	0.046000	0.14306	0.770000	0.26618	0.448000	0.26722	0.313000	0.20887	GAG		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	6	0	0	0	1	0	7	6				
MTF2	22823	broad.mit.edu	37	1	93581066	93581066	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:93581066T>G	ENST00000370298.4	+	6	812	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.L73V|MTF2_ENST00000545708.1_Missense_Mutation_p.L73V|MTF2_ENST00000370303.4_Missense_Mutation_p.L175V	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	175					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCAAAGCATTGCAAGTCAT	0.408																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(523-525)Ttg>Gtg		metal response element binding transcription factor 2							123.0	102.0	109.0					1																	93581066		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93581066T>G	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.523T>G	1.37:g.93581066T>G	ENSP00000359321:p.Leu175Val					MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.L73V|MTF2_ENST00000370303.4_Missense_Mutation_p.L175V|MTF2_ENST00000540243.1_Missense_Mutation_p.L73V	p.L175V	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	6	812	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	175					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.523T>G	CCDS742.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410170	0.42715	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.34072	1.38;1.38;1.8;1.88	5.37	1.67	0.24075	.	0.202503	0.43416	D	0.000565	T	0.29783	0.0744	M	0.76002	2.32	0.45946	D	0.998771	P;B	0.51449	0.945;0.255	P;B	0.49799	0.622;0.155	T	0.07443	-1.0772	10	0.46703	T	0.11	-3.6705	9.0478	0.36358	0.0:0.3596:0.0:0.6404	.	175;175	B1AKT6;Q9Y483	.;MTF2_HUMAN	V	73;73;175;73;175	ENSP00000444962:L73V;ENSP00000443295:L73V;ENSP00000359321:L175V;ENSP00000359326:L175V	ENSP00000359321:L175V	L	+	1	2	MTF2	93353654	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	1.275000	0.33144	0.018000	0.15052	-1.054000	0.02325	TTG		0.408	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		12	33	0	0	0	1	0	12	33				
TBCEL	219899	broad.mit.edu	37	11	120916496	120916496	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr11:120916496C>A	ENST00000529397.1	+	2	197	c.97C>A	c.(97-99)Cat>Aat	p.H33N	TBCEL_ENST00000422003.2_Missense_Mutation_p.H33N	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GATGGGAGTCCATGTCCCAGC	0.428																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(97-99)Cat>Aat		tubulin folding cofactor E-like							37.0	44.0	42.0					11																	120916496		2203	4297	6500	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120916496C>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.97C>A	11.37:g.120916496C>A	ENSP00000437184:p.His33Asn					TBCEL_ENST00000529397.1_Missense_Mutation_p.H33N	p.H33N	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	2	285	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	33					Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.97C>A	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836525	0.50951	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.61	5.61	0.85477	.	0.107662	0.64402	D	0.000007	T	0.27169	0.0666	N	0.19112	0.55	0.40654	D	0.98206	P	0.42296	0.775	B	0.28553	0.091	T	0.09997	-1.0649	10	0.36615	T	0.2	-7.0219	19.6408	0.95757	0.0:1.0:0.0:0.0	.	33	Q5QJ74	TBCEL_HUMAN	N	33	ENSP00000437184:H33N;ENSP00000431803:H33N;ENSP00000403925:H33N;ENSP00000432783:H33N	ENSP00000284259:H33N	H	+	1	0	TBCEL	120421706	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.946000	0.63576	2.643000	0.89663	0.650000	0.86243	CAT		0.428	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		8	46	1	0	7.48243e-07	1	7.86614e-07	8	46				
GIMAP5	55340	broad.mit.edu	37	7	150439701	150439701	+	Silent	SNP	C	C	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:150439701C>T	ENST00000358647.3	+	3	841	c.474C>T	c.(472-474)ggC>ggT	p.G158G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	158	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTAGGGGGCCAGGCCCTGG	0.552																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(472-474)ggC>ggT		GTPase, IMAP family member 5							103.0	98.0	100.0					7																	150439701		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439701C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.474C>T	7.37:g.150439701C>T						GIMAP5_ENST00000479556.1_3'UTR	p.G158G	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	841	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.474C>T	CCDS5907.1																																																																																				0.552	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		49	82	0	0	0	1	0	49	82				
SLC39A2	29986	broad.mit.edu	37	14	21469359	21469359	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr14:21469359G>A	ENST00000298681.4	+	4	708	c.551G>A	c.(550-552)gGg>gAg	p.G184E	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	184					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CTAGCTGTGGGGCTGCAGCCG	0.557																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(550-552)gGg>gAg		solute carrier family 39 (zinc transporter), member 2							113.0	96.0	101.0					14																	21469359		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469359G>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.551G>A	14.37:g.21469359G>A	ENSP00000298681:p.Gly184Glu					SLC39A2_ENST00000554422.1_3'UTR	p.G184E	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	708	+	all_cancers(95;0.00267)		184					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.551G>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945254	0.92593	.	.	ENSG00000165794	ENST00000298681	T	0.72835	-0.69	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90447	0.4436	10	0.87932	D	0	-15.0911	17.3289	0.87257	0.0:0.0:1.0:0.0	.	184	Q9NP94	S39A2_HUMAN	E	184	ENSP00000298681:G184E	ENSP00000298681:G184E	G	+	2	0	SLC39A2	20539199	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.608000	0.90895	2.687000	0.91594	0.655000	0.94253	GGG		0.557	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		31	52	0	0	0	1	0	31	52				
NSD1	64324	broad.mit.edu	37	5	176721621	176721621	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr5:176721621C>T	ENST00000439151.2	+	23	7297	c.7252C>T	c.(7252-7254)Ctc>Ttc	p.L2418F	NSD1_ENST00000347982.4_Missense_Mutation_p.L2149F|NSD1_ENST00000354179.4_Missense_Mutation_p.L2149F|NSD1_ENST00000361032.4_Missense_Mutation_p.L2315F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2418	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCCCAGAGACTCCCACCTCC	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(7252-7254)Ctc>Ttc		nuclear receptor binding SET domain protein 1							77.0	87.0	84.0					5																	176721621		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721621C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7252C>T	5.37:g.176721621C>T	ENSP00000395929:p.Leu2418Phe	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.L2315F|NSD1_ENST00000354179.4_Missense_Mutation_p.L2149F|NSD1_ENST00000347982.4_Missense_Mutation_p.L2149F	p.L2418F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7297	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2418			Pro-rich.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.7252C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650586	0.29336	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95447	-3.63;-3.63;-3.63;-3.71	5.8	4.88	0.63580	.	0.230377	0.31031	N	0.008386	D	0.91580	0.7340	L	0.36672	1.1	0.32026	N	0.600183	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.003	D	0.90065	0.4159	10	0.72032	D	0.01	.	9.5774	0.39465	0.0:0.822:0.0:0.178	.	2149;2418	Q96L73-2;Q96L73	.;NSD1_HUMAN	F	2149;2418;2149;2315	ENSP00000346111:L2149F;ENSP00000395929:L2418F;ENSP00000343209:L2149F;ENSP00000354310:L2315F	ENSP00000343209:L2149F	L	+	1	0	NSD1	176654227	0.573000	0.26676	0.997000	0.53966	0.946000	0.59487	0.382000	0.20635	1.335000	0.45486	0.563000	0.77884	CTC		0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		8	79	0	0	0	1	0	8	79				
PTPRZ1	5803	broad.mit.edu	37	7	121651553	121651553	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:121651553C>A	ENST00000393386.2	+	12	2864	c.2453C>A	c.(2452-2454)cCt>cAt	p.P818H	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	818					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P818L(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGGTGCACCTTTGCTTCCA	0.458																																						ENST00000393386.2																			2	Substitution - Missense(2)	p.P818L(2)	endometrium(2)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2452-2454)cCt>cAt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							260.0	213.0	229.0					7																	121651553		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651553C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2453C>A	7.37:g.121651553C>A	ENSP00000377047:p.Pro818His					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.P818H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2864	+			818					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2453C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372695	0.61624	.	.	ENSG00000106278	ENST00000393386	T	0.48522	0.81	5.53	5.53	0.82687	.	0.238045	0.36555	N	0.002524	T	0.70245	0.3202	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71984	-0.4427	10	0.87932	D	0	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	818	P23471	PTPRZ_HUMAN	H	818	ENSP00000377047:P818H	ENSP00000377047:P818H	P	+	2	0	PTPRZ1	121438789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.914000	0.48797	2.774000	0.95407	0.650000	0.86243	CCT		0.458	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		61	124	1	0	2.5401e-28	1	2.8147e-28	61	124				
DMTN	2039	broad.mit.edu	37	8	21925135	21925135	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr8:21925135A>T	ENST00000523266.1	+	4	653	c.191A>T	c.(190-192)tAc>tTc	p.Y64F	DMTN_ENST00000517600.1_Missense_Mutation_p.Y39F|DMTN_ENST00000443491.2_Missense_Mutation_p.Y39F|DMTN_ENST00000519907.1_Missense_Mutation_p.Y64F|DMTN_ENST00000415253.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523782.2_Missense_Mutation_p.Y39F|DMTN_ENST00000432128.1_Missense_Mutation_p.Y64F|DMTN_ENST00000265800.5_Missense_Mutation_p.Y64F|DMTN_ENST00000358242.3_Missense_Mutation_p.Y64F|DMTN_ENST00000381470.3_Missense_Mutation_p.Y64F	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	64					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CTCATGATCTACGAGCCTCAC	0.637																																						ENST00000358242.3																			0											c.(190-192)tAc>tTc		dematin actin binding protein							118.0	107.0	111.0					8																	21925135		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21925135A>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.191A>T	8.37:g.21925135A>T	ENSP00000427866:p.Tyr64Phe					DMTN_ENST00000443491.2_Missense_Mutation_p.Y39F|DMTN_ENST00000517600.1_Missense_Mutation_p.Y39F|DMTN_ENST00000432128.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523266.1_Missense_Mutation_p.Y64F|DMTN_ENST00000415253.1_Missense_Mutation_p.Y64F|DMTN_ENST00000381470.3_Missense_Mutation_p.Y64F|DMTN_ENST00000265800.5_Missense_Mutation_p.Y64F|DMTN_ENST00000519907.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523782.2_Missense_Mutation_p.Y39F	p.Y64F							4	684	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.191A>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	A	35	5.432095	0.96150	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.41	5.41	0.78517	.	0.389175	0.26571	N	0.023622	T	0.74741	0.3756	M	0.76574	2.34	0.54753	D	0.999985	D;D;D;D;D;D	0.76494	0.997;0.997;0.997;0.993;0.999;0.996	D;D;D;D;D;D	0.78314	0.97;0.97;0.97;0.978;0.991;0.98	T	0.77905	-0.2413	10	0.72032	D	0.01	.	13.4012	0.60883	1.0:0.0:0.0:0.0	.	3;39;64;39;39;64	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	F	39;39;64;64;64;39;39;39;39;39;64;64;3;64;64;64;64;64	ENSP00000428063:Y39F;ENSP00000429116:Y39F;ENSP00000430600:Y64F;ENSP00000370879:Y64F;ENSP00000416111:Y64F;ENSP00000397904:Y39F;ENSP00000430618:Y39F;ENSP00000428733:Y39F;ENSP00000430382:Y39F;ENSP00000428415:Y64F;ENSP00000265800:Y64F;ENSP00000429948:Y64F;ENSP00000350977:Y64F;ENSP00000401291:Y64F;ENSP00000427866:Y64F;ENSP00000429377:Y64F	ENSP00000265800:Y64F	Y	+	2	0	EPB49	21981081	1.000000	0.71417	0.947000	0.38551	0.929000	0.56500	9.238000	0.95380	2.058000	0.61347	0.459000	0.35465	TAC		0.637	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		13	63	0	0	0	1	0	13	63				
ACSM2B	348158	broad.mit.edu	37	16	20570580	20570580	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr16:20570580T>C	ENST00000329697.6	-	3	535	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGCCCAGGATCACCAGCCAC	0.577																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(367-369)Atc>Gtc		acyl-CoA synthetase medium-chain family member 2B							42.0	36.0	38.0					16																	20570580		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570580T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.367A>G	16.37:g.20570580T>C	ENSP00000327453:p.Ile123Val					ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123V	p.I123V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	535	-			123					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.367A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	0.273	-0.991596	0.02162	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.42900	0.96;0.96	3.51	2.37	0.29283	AMP-dependent synthetase/ligase (1);	0.851319	0.10016	N	0.726655	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19516	-1.0303	10	0.12430	T	0.62	-1.6411	7.9835	0.30198	0.0:0.1072:0.0:0.8928	.	123;123	A8K051;Q68CK6	.;ACS2B_HUMAN	V	123	ENSP00000327453:I123V;ENSP00000390378:I123V	ENSP00000327453:I123V	I	-	1	0	ACSM2B	20478081	0.397000	0.25270	0.595000	0.28798	0.118000	0.20060	1.414000	0.34736	1.465000	0.48006	0.496000	0.49642	ATC		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		3	27	0	0	0	1	0	3	27				
CPD	1362	broad.mit.edu	37	17	28712043	28712043	+	Silent	SNP	G	G	T			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr17:28712043G>T	ENST00000225719.4	+	2	859	c.783G>T	c.(781-783)gtG>gtT	p.V261V	CPD_ENST00000543464.2_Silent_p.V14V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	261	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTGGCTCAGTGGTAGCAAGCT	0.368																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(781-783)gtG>gtT		carboxypeptidase D							172.0	174.0	173.0					17																	28712043		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28712043G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.783G>T	17.37:g.28712043G>T						CPD_ENST00000543464.2_Silent_p.V14V	p.V261V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			2	859	+			261			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.783G>T	CCDS11257.1																																																																																				0.368	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		40	152	1	0	7.63091e-17	1	8.23335e-17	40	152				
PRPF38B	55119	broad.mit.edu	37	1	109242566	109242580	+	In_Frame_Del	DEL	ATGATCGTCGAAGGA	ATGATCGTCGAAGGA	-	rs377228092|rs140893827		TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr1:109242566_109242580delATGATCGTCGAAGGA	ENST00000370025.4	+	6	1834_1848	c.1565_1579delATGATCGTCGAAGGA	c.(1564-1581)catgatcgtcgaaggagc>cgc	p.522_527HDRRRS>R	PRPF38B_ENST00000370021.1_In_Frame_Del_p.411_416HDRRRS>R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	522					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TCAGACAAACATGATCGTCGAAGGAGCCAAAGTAT	0.377																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(1231-1248)cgc>c		pre-mRNA processing factor 38B																																				SO:0001651	inframe_deletion	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242566_109242580delATGATCGTCGAAGGA	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1565_1579delATGATCGTCGAAGGA	1.37:g.109242566_109242580delATGATCGTCGAAGGA	ENSP00000359042:p.His522_Ser527delinsArg					PRPF38B_ENST00000370025.4_In_Frame_Del_p.HDRRRS522del	p.HDRRRS411del			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1869_1883	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	522			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	In_Frame_Del	DEL	ENST00000370025.4	37	c.1232_1246delATGATCGTCGAAGGA	CCDS788.1																																																																																				0.377	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		7	151						7	151	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-	rs566726868	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													|||unknown(HR)	1834	0.366214	0.3752	0.3977	5008	,	,		31479	0.3988		0.335	False		,,,				2504	0.3303					ENST00000436174.1																			0																																																			0							g.chr2:91899626delA																													2.37:g.91899626delA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.289	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			5	7						5	7	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5434124	5434124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr7:5434124delG	ENST00000430969.1	-	3	638	c.290delC	c.(289-291)ccafs	p.P97fs	TNRC18_ENST00000399434.2_Frame_Shift_Del_p.P23fs|TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P97fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	97							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTAGGGGTTGGGGAGCGGAA	0.677																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(289-291)cafs		trinucleotide repeat containing 18							23.0	29.0	27.0					7																	5434124		2008	4146	6154	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5434124delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.290delC	7.37:g.5434124delG	ENSP00000395538:p.Pro97fs					TNRC18_ENST00000399434.2_Frame_Shift_Del_p.P23fs|TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P97fs	p.P97fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	3	638	-		Ovarian(82;0.142)	97					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.290delC	CCDS47534.1																																																																																				0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
SNORA26	677810	broad.mit.edu	37	9	89875500	89875500	+	RNA	DEL	A	A	-			TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr9:89875500delA	ENST00000391119.1	+	0	136									small nucleolar RNA, H/ACA box 26																		GAGCCACAGCaaaaaaaaaaa	0.363																																						ENST00000391119.1																			0																																																			0							g.chr9:89875500delA			4q12	2013-09-05			ENSG00000212588	ENSG00000212588		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32616	non-coding RNA	RNA, small nucleolar		614626				11387227, 16381836	Standard	NR_003016		Approved	HBI-6	uc021wzl.1				9.37:g.89875500delA														0	136	+									RNA	DEL	ENST00000391119.1	37																																																																																						0.363	SNORA26.3-201	NOVEL	basic	snoRNA	snoRNA		NR_003016		3	6						3	6	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55																																						ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAAC																													12.37:g.13174148_13174150dupAAC														0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			4	5						4	5	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-	rs369022450		TCGA-DJ-A4UQ-01A-11D-A257-08	TCGA-DJ-A4UQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	076a1f31-3612-4a04-9def-a013b04ba13c	0c59ca72-7df5-4854-883a-7b204a87f2f0	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1311_1329	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.AERLRGP412fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	412	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562																																						ENST00000424340.1																			0											c.(1234-1254)gcfs		nuclear pore complex interacting protein family, member B5																																				SO:0001589	frameshift_variant	100132247							g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1236_1254delCGAGCGTCTGCGGGGGCCG	16.37:g.22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala412fs					NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR	p.AERLRGP412fs	NM_001135865.1	NP_001129337.1					7	1515_1533	+								B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1236_1254delCGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																				0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		4	8						4	8	---	---	---	---
