#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
PRMT5	10419	broad.mit.edu	37	14	23395463	23395463	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:23395463T>G	ENST00000324366.8	-	7	879	c.656A>C	c.(655-657)gAt>gCt	p.D219A	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	219	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCCAGCGATCAATGACATG	0.478																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(655-657)gAt>gCt		protein arginine methyltransferase 5							89.0	93.0	92.0					14																	23395463		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395463T>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.656A>C	14.37:g.23395463T>G	ENSP00000319169:p.Asp219Ala					PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A	p.D219A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	879	-	all_cancers(95;2.76e-05)		219					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.656A>C	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781391	0.49891	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.52206	1.635	0.80722	D	1	B;P;P;B	0.41232	0.12;0.47;0.743;0.203	B;B;B;B	0.40506	0.061;0.3;0.331;0.159	T	0.53373	-0.8448	9	0.32370	T	0.25	-18.2353	14.8375	0.70194	0.0:0.0:0.0:1.0	.	175;158;219;202	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	A	219;202;158;113;175;114;174;181	.	ENSP00000216350:D158A	D	-	2	0	PRMT5	22465303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.324000	0.79115	2.200000	0.70718	0.459000	0.35465	GAT		0.478	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			4	84	0	0	0	1	0	4	84				
TMEM40	55287	broad.mit.edu	37	3	12783983	12783983	+	Missense_Mutation	SNP	C	C	T	rs544710139		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12783983C>T	ENST00000314124.7	-	5	681	c.325G>A	c.(325-327)Gtt>Att	p.V109I	TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCTTCAAAACGTCAGGCTCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20723	0.0		0.0	False		,,,				2504	0.001					ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(325-327)Gtt>Att		transmembrane protein 40							127.0	123.0	124.0					3																	12783983		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12783983C>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.325G>A	3.37:g.12783983C>T	ENSP00000322837:p.Val109Ile					TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I	p.V109I	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			5	681	-			109					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.325G>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	1.933	-0.445481	0.04604	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	4.62	-7.14	0.01527	.	0.938309	0.08790	N	0.893337	T	0.13841	0.0335	N	0.05199	-0.095	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.001;0.001;0.002	T	0.29792	-1.0000	9	0.23302	T	0.38	-18.2469	8.3923	0.32535	0.0:0.1597:0.2333:0.607	.	125;33;79;109	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	I	109;33;79;12;109;125	.	ENSP00000264728:V109I	V	-	1	0	TMEM40	12758983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.258000	0.01179	-1.605000	0.01593	-0.794000	0.03295	GTT		0.512	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		5	107	0	0	0	1	0	5	107				
KDM3B	51780	broad.mit.edu	37	5	137721798	137721798	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:137721798G>T	ENST00000314358.5	+	7	1068	c.868G>T	c.(868-870)Gct>Tct	p.A290S	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	290					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGAAAAGTGCTTCGGACTC	0.483																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(868-870)Gct>Tct		lysine (K)-specific demethylase 3B							80.0	92.0	88.0					5																	137721798		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721798G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.868G>T	5.37:g.137721798G>T	ENSP00000326563:p.Ala290Ser						p.A290S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1068	+			290					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.868G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374742	0.24857	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.64618	-0.11	5.44	4.55	0.56014	.	0.329918	0.31020	N	0.008403	T	0.49218	0.1544	N	0.24115	0.695	0.80722	D	1	B	0.18461	0.028	B	0.09377	0.004	T	0.46176	-0.9210	10	0.62326	D	0.03	-2.5098	14.4358	0.67279	0.0:0.2807:0.7193:0.0	.	290	Q7LBC6	KDM3B_HUMAN	S	290;80	ENSP00000326563:A290S	ENSP00000326563:A290S	A	+	1	0	KDM3B	137749697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.704000	0.61831	1.246000	0.43901	0.557000	0.71058	GCT		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		4	76	1	0	0.150653	1	0.153443	4	76				
RGAG1	57529	broad.mit.edu	37	X	109695424	109695424	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:109695424C>A	ENST00000465301.2	+	3	1825	c.1579C>A	c.(1579-1581)Caa>Aaa	p.Q527K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	527										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCATGCCACAATTGACAGT	0.522																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1579-1581)Caa>Aaa		retrotransposon gag domain containing 1							184.0	168.0	173.0					X																	109695424		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695424C>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1579C>A	X.37:g.109695424C>A	ENSP00000419786:p.Gln527Lys					RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1825	+			527					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1579C>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174564	0.38413	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	.	0.000000	0.34338	N	0.004043	T	0.63343	0.2503	M	0.64404	1.975	0.20074	N	0.999938	D	0.67145	0.996	D	0.72982	0.979	T	0.54964	-0.8214	9	.	.	.	-9.7518	13.4063	0.60915	0.0:1.0:0.0:0.0	.	527	Q8NET4	RGAG1_HUMAN	K	527	ENSP00000419786:Q527K;ENSP00000441452:Q527K	.	Q	+	1	0	RGAG1	109582080	0.036000	0.19791	0.047000	0.18901	0.311000	0.27955	2.205000	0.42770	2.329000	0.79093	0.499000	0.49734	CAA		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		5	229	1	0	8.12818e-05	1	8.59712e-05	5	229				
AHNAK	79026	broad.mit.edu	37	11	62301031	62301031	+	Silent	SNP	A	A	G	rs201909891		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62301031A>G	ENST00000378024.4	-	5	1132	c.858T>C	c.(856-858)ggT>ggC	p.G286G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	286					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTGCCCTACCCCCAAGAG	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(856-858)ggT>ggC		AHNAK nucleoprotein							115.0	101.0	106.0					11																	62301031		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301031A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.858T>C	11.37:g.62301031A>G						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G286G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1132	-		Melanoma(852;0.155)	286					A1A586	Silent	SNP	ENST00000378024.4	37	c.858T>C	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		32	60	0	0	0	1	0	32	60				
KMT2C	58508	broad.mit.edu	37	7	151845755	151845755	+	Silent	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:151845755T>C	ENST00000262189.6	-	52	13475	c.13257A>G	c.(13255-13257)ctA>ctG	p.L4419L	KMT2C_ENST00000355193.2_Silent_p.L4476L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4419					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAAGGTTGAGTAGCCTTGCTG	0.493																																						ENST00000355193.2																			0											c.(13426-13428)ctA>ctG		lysine (K)-specific methyltransferase 2C							94.0	86.0	88.0					7																	151845755		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151845755T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13257A>G	7.37:g.151845755T>C						KMT2C_ENST00000262189.6_Silent_p.L4419L	p.L4476L							53	13646	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.13428A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.109	0.575733	0.13623	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.1	2.08	0.27032	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29518	-1.0009	4	.	.	.	.	1.3684	0.02205	0.1868:0.4029:0.2303:0.18	.	.	.	.	A	1980	.	.	T	-	1	0	MLL3	151476688	0.968000	0.33430	1.000000	0.80357	0.938000	0.57974	0.107000	0.15375	0.643000	0.30638	-0.475000	0.04921	ACT		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	50	0	0	0	1	0	30	50				
ELF4	2000	broad.mit.edu	37	X	129203477	129203477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:129203477G>A	ENST00000308167.5	-	8	1364	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCTGGTTCGCCGGGTGGTA	0.612			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(985-987)Cga>Tga		E74-like factor 4 (ets domain transcription factor)							68.0	73.0	71.0					X																	129203477		2203	4300	6503	SO:0001587	stop_gained	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129203477G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.985C>T	X.37:g.129203477G>A	ENSP00000311280:p.Arg329*					ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	p.R329*	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			8	1364	-			329						Nonsense_Mutation	SNP	ENST00000308167.5	37	c.985C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418961	0.96092	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	.	.	.	5.14	-6.13	0.02118	.	0.445116	0.18343	N	0.144127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5434	0.27753	0.0709:0.0873:0.1658:0.676	.	.	.	.	X	329	.	ENSP00000311280:R329X	R	-	1	2	ELF4	129031158	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-0.554000	0.06006	-0.956000	0.03631	0.590000	0.80494	CGA		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		7	124	0	0	0	1	0	7	124				
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:202124738C>T	ENST00000308986.5	-	5	522		c.e5-1		PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Splice_Site|PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527																																						ENST00000309017.3																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.e5-1		protein tyrosine phosphatase, non-receptor type 7							60.0	55.0	57.0					1																	202124738		2203	4300	6503	SO:0001630	splice_region_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124738C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.392-1G>A	1.37:g.202124738C>T						PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site		NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1480	-								B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Splice_Site	SNP	ENST00000308986.5	37			.	.	.	.	.	.	.	.	.	.	C	23.6	4.440487	0.83993	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000477625;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8477	0.92213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN7	200391361	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.900000	0.75687	2.449000	0.82847	0.655000	0.94253	.		0.527	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832	Intron	4	39	0	0	0	1	0	4	39				
SERPINA4	5267	broad.mit.edu	37	14	95035850	95035850	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:95035850G>A	ENST00000557004.1	+	5	1623	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	401					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGATTCAACCGGCCCTTCCTT	0.587																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1201-1203)cGg>cAg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							107.0	84.0	92.0					14																	95035850		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035850G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1202G>A	14.37:g.95035850G>A	ENSP00000450838:p.Arg401Gln					SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q	p.R401Q			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1623	+			401					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1202G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799006	0.50208	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85773	-2.03;-2.03;-2.03	5.56	1.71	0.24356	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.52532	D	0.000080	D	0.87748	0.6255	L	0.60845	1.875	0.80722	D	1	D;D	0.76494	0.988;0.999	P;P	0.62560	0.746;0.904	D	0.85860	0.1409	10	0.59425	D	0.04	.	9.679	0.40059	0.2848:0.0:0.7152:0.0	.	401;401	B2R815;P29622	.;KAIN_HUMAN	Q	401	ENSP00000450838:R401Q;ENSP00000451172:R401Q;ENSP00000298841:R401Q	ENSP00000298841:R401Q	R	+	2	0	SERPINA4	94105603	0.660000	0.27420	0.504000	0.27639	0.019000	0.09904	1.790000	0.38734	0.324000	0.23333	-0.136000	0.14681	CGG		0.587	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		8	69	0	0	0	1	0	8	69				
USP54	159195	broad.mit.edu	37	10	75260418	75260418	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr10:75260418A>G	ENST00000339859.4	-	22	4590	c.4490T>C	c.(4489-4491)cTc>cCc	p.L1497P	RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1497					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTACCTGGGAGTCTATTGGG	0.522																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(4489-4491)cTc>cCc		ubiquitin specific peptidase 54							83.0	83.0	83.0					10																	75260418		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75260418A>G	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4490T>C	10.37:g.75260418A>G	ENSP00000345216:p.Leu1497Pro					RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000593790.1_RNA	p.L1497P			Q70EL1	UBP54_HUMAN			22	4590	-	Prostate(51;0.0112)		1497					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.4490T>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	a	10.50	1.366568	0.24771	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.21543	2.02;2.02;2.02;2.0;2.0	5.35	2.29	0.28610	.	.	.	.	.	T	0.05410	0.0143	N	0.00972	-1.085	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22626	-1.0211	9	0.26408	T	0.33	0.8704	2.922	0.05772	0.2217:0.1215:0.5322:0.1246	.	632;1497	E7EW90;Q70EL1	.;UBP54_HUMAN	P	1497;1497;1347;538;632	ENSP00000345216:L1497P;ENSP00000386080:L1497P;ENSP00000408714:L1347P;ENSP00000378290:L538P;ENSP00000407368:L632P	ENSP00000345216:L1497P	L	-	2	0	USP54	74930424	0.970000	0.33590	0.993000	0.49108	0.970000	0.65996	0.473000	0.22132	0.621000	0.30232	-0.505000	0.04504	CTC		0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		16	52	0	0	0	1	0	16	52				
TPTE	7179	broad.mit.edu	37	21	10970009	10970009	+	Splice_Site	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:10970009C>G	ENST00000361285.4	-	6	448	c.119G>C	c.(118-120)aGc>aCc	p.S40T	TPTE_ENST00000342420.5_Splice_Site_p.S40T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S40T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	40					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATTGCTCACCTTTCTTTCGC	0.438																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology							280.0	252.0	262.0					21																	10970009		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970009C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.119+1G>C	21.37:g.10970009C>G						TPTE_ENST00000361285.4_Splice_Site_p.S40_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S40_splice	p.S40_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	486	-			40					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.119_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.619347	0.00007	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95205	-3.64;-3.59;-3.44	0.725	-1.45	0.08828	.	30.764100	0.01208	N	0.007767	D	0.89364	0.6694	L	0.34521	1.04	0.09310	N	1	B;B;B	0.29301	0.0;0.241;0.0	B;B;B	0.29785	0.002;0.107;0.001	T	0.75210	-0.3398	9	.	.	.	.	1.9673	0.03399	0.4355:0.2337:0.0:0.3307	.	40;40;40	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	40	ENSP00000298232:S40T;ENSP00000355208:S40T;ENSP00000344441:S40T	.	S	-	2	0	TPTE	9991880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.409000	0.00238	-2.478000	0.00525	-1.210000	0.01631	AGT;AGC;AGC		0.438	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	15	92	0	0	0	1	0	15	92				
CPSF3	51692	broad.mit.edu	37	2	9607904	9607904	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:9607904C>T	ENST00000238112.3	+	16	2061	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Splice_Site_p.Q582*	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	619					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GATCATGCTCCAGTAAGTTTT	0.468																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e16+1		cleavage and polyadenylation specific factor 3, 73kDa							80.0	74.0	76.0					2																	9607904		2203	4300	6503	SO:0001630	splice_region_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9607904C>T	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1856+1C>T	2.37:g.9607904C>T						CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619_splice	p.Q582_splice			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	16	2882	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	619					O14769|Q53RS2|Q96F36	Splice_Site	SNP	ENST00000238112.3	37	c.1745_splice	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	37	6.248317	0.97412	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-19.2249	18.8441	0.92198	0.0:1.0:0.0:0.0	.	.	.	.	X	619;341;582	.	ENSP00000238112:Q619X	Q	+	1	0	CPSF3	9525355	0.997000	0.39634	0.972000	0.41901	0.123000	0.20343	4.673000	0.61604	2.738000	0.93877	0.655000	0.94253	CAG		0.468	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	Nonsense_Mutation	5	56	0	0	0	1	0	5	56				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	26	0	0	0	1	0	3	26				
AHDC1	27245	broad.mit.edu	37	1	27877971	27877971	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:27877971G>A	ENST00000247087.5	-	5	1252	c.656C>T	c.(655-657)aCg>aTg	p.T219M	AHDC1_ENST00000374011.2_Missense_Mutation_p.T219M			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	219	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCCGCAGCCGTGGCTCCGGG	0.652																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(655-657)aCg>aTg		AT hook, DNA binding motif, containing 1							31.0	36.0	35.0					1																	27877971		2203	4299	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27877971G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.656C>T	1.37:g.27877971G>A	ENSP00000247087:p.Thr219Met					AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M|AHDC1_ENST00000482400.2_5'UTR	p.T219M	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1624	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	219			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.656C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356567	0.24598	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51071	0.72;0.72	4.06	3.14	0.36123	.	.	.	.	.	T	0.24470	0.0593	N	0.08118	0	0.22918	N	0.998564	B	0.24576	0.106	B	0.09377	0.004	T	0.12319	-1.0552	9	0.54805	T	0.06	-0.72	5.5841	0.17266	0.1082:0.0:0.6964:0.1954	.	219	Q5TGY3	AHDC1_HUMAN	M	219	ENSP00000247087:T219M;ENSP00000363123:T219M	ENSP00000247087:T219M	T	-	2	0	AHDC1	27750558	0.408000	0.25360	0.735000	0.30896	0.516000	0.34256	1.154000	0.31688	1.009000	0.39289	0.467000	0.42956	ACG		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			26	11	0	0	0	1	0	26	11				
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						ENST00000259569.5																			4	Substitution - Missense(4)	p.I984L(4)	lung(2)|endometrium(1)|kidney(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2950-2952)Ata>Cta		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu						p.I984L	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2960	-		Acute lymphoblastic leukemia(23;0.158)	984					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		3	78	0	0	0	1	0	3	78				
RABEP1	9135	broad.mit.edu	37	17	5250214	5250214	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5250214C>A	ENST00000546142.2	+	6	965	c.778C>A	c.(778-780)Cat>Aat	p.H260N	RABEP1_ENST00000262477.6_Missense_Mutation_p.H260N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	260					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAAGAATTGCATGAAGGTAA	0.308																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(778-780)Cat>Aat		rabaptin, RAB GTPase binding effector protein 1							63.0	60.0	61.0					17																	5250214		1833	4078	5911	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5250214C>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.778C>A	17.37:g.5250214C>A	ENSP00000437701:p.His260Asn					RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N	p.H260N	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			6	1002	+			260					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.778C>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758911	0.89843	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.91;0.9	5.19	5.19	0.71726	.	0.095044	0.64402	D	0.000001	T	0.52191	0.1719	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.67145	0.991;0.985;0.993;0.993;0.996	P;P;D;P;D	0.75484	0.851;0.714;0.968;0.823;0.986	T	0.38887	-0.9640	10	0.22109	T	0.4	-8.9837	18.1538	0.89686	0.0:1.0:0.0:0.0	.	217;217;260;260;260	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	N	260;260;260;260;260;217	ENSP00000262477:H260N;ENSP00000386150:H260N;ENSP00000437701:H260N;ENSP00000339569:H260N;ENSP00000445408:H217N	ENSP00000262477:H260N	H	+	1	0	RABEP1	5190938	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.390000	0.79816	2.615000	0.88500	0.502000	0.49764	CAT		0.308	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		3	47	1	0	0.00909568	1	0.00943891	3	47				
LARP4	113251	broad.mit.edu	37	12	50860853	50860853	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr12:50860853G>A	ENST00000398473.2	+	13	1607	c.1495G>A	c.(1495-1497)Gtt>Att	p.V499I	LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	499					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGGTGAACTCGTTTTGGAGAA	0.393																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1495-1497)Gtt>Att		La ribonucleoprotein domain family, member 4							110.0	97.0	101.0					12																	50860853		1852	4099	5951	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50860853G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1495G>A	12.37:g.50860853G>A	ENSP00000381490:p.Val499Ile					LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I	p.V499I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			13	1607	+			499					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1495G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261562	0.23051	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	4.89	0.666	0.17901	.	0.329465	0.31370	N	0.007762	T	0.29749	0.0743	L	0.61218	1.895	0.09310	N	0.999998	B;B;B;B;B;B	0.26400	0.007;0.024;0.148;0.002;0.008;0.012	B;B;B;B;B;B	0.18871	0.009;0.019;0.023;0.003;0.008;0.013	T	0.16571	-1.0398	10	0.37606	T	0.19	.	8.2985	0.31999	0.0712:0.1074:0.6926:0.1289	.	400;498;428;428;499;505	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	I	428;505;499;498;400;428	ENSP00000293618:V428I;ENSP00000415464:V505I;ENSP00000381490:V499I;ENSP00000429077:V498I;ENSP00000340901:V428I	ENSP00000293618:V428I	V	+	1	0	LARP4	49147120	0.964000	0.33143	0.612000	0.29024	0.787000	0.44495	1.692000	0.37731	0.008000	0.14787	-1.360000	0.01215	GTT		0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		4	60	0	0	0	1	0	4	60				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	19	0	0	0	1	0	15	19				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	30	0	0	0	1	0	3	30				
DDX24	57062	broad.mit.edu	37	14	94545908	94545908	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:94545908G>A	ENST00000330836.5	-	2	312	c.181C>T	c.(181-183)Cct>Tct	p.P61S	IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.P18S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	61					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCTTGGCAGGGGAGACCAAC	0.468																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(181-183)Cct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 24							211.0	204.0	207.0					14																	94545908		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545908G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.181C>T	14.37:g.94545908G>A	ENSP00000328690:p.Pro61Ser					DDX24_ENST00000555054.1_Missense_Mutation_p.P18S|DDX24_ENST00000544005.1_Intron	p.P61S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	312	-		all_cancers(154;0.12)	61					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.181C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	3.745	-0.052706	0.07362	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.02682	4.2;4.21	4.16	-3.9	0.04181	.	0.977000	0.08425	N	0.947794	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49495	-0.8934	10	0.10111	T	0.7	-22.3403	2.4352	0.04481	0.4913:0.2417:0.1456:0.1214	.	61	Q9GZR7	DDX24_HUMAN	S	61;61;18;18	ENSP00000328690:P61S;ENSP00000452145:P18S	ENSP00000328690:P61S	P	-	1	0	DDX24	93615661	0.024000	0.19004	0.124000	0.21820	0.739000	0.42172	0.039000	0.13884	-0.796000	0.04456	-0.378000	0.06908	CCT		0.468	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		5	148	0	0	0	1	0	5	148				
TGFBI	7045	broad.mit.edu	37	5	135383017	135383017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:135383017G>A	ENST00000442011.2	+	6	840	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAACCAACGGGGTGGTGCA	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(679-681)Ggg>Agg		transforming growth factor, beta-induced, 68kDa							167.0	164.0	165.0					5																	135383017		2125	4224	6349	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383017G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.679G>A	5.37:g.135383017G>A	ENSP00000416330:p.Gly227Arg					TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	840	+			227			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.679G>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.626135|5.626135	0.96671|0.96671	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000305126|ENST00000508767	D;D|.	0.94138|.	-3.36;-3.36|.	6.0|6.0	6.0|6.0	0.97389|0.97389	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91341|0.91341	0.7269|0.7269	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93765|0.93765	0.7070|0.7070	10|5	0.87932|.	D|.	0|.	-19.1517|-19.1517	20.5597|20.5597	0.99324|0.99324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227|.	Q15582|.	BGH3_HUMAN|.	R|Q	227|2	ENSP00000416330:G227R;ENSP00000306306:G227R|.	ENSP00000306306:G227R|.	G|R	+|+	1|2	0|0	TGFBI|TGFBI	135410916|135410916	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.974000|0.974000	0.67602|0.67602	9.865000|9.865000	0.99609|0.99609	2.868000|2.868000	0.98415|0.98415	0.556000|0.556000	0.70494|0.70494	GGG|CGG		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			4	152	0	0	0	1	0	4	152				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	70	0	0	0	1	0	26	70				
KIF26A	26153	broad.mit.edu	37	14	104638942	104638942	+	Missense_Mutation	SNP	G	G	A	rs546440609		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:104638942G>A	ENST00000423312.2	+	7	1357	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	KIF26A_ENST00000315264.7_Missense_Mutation_p.V314M	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	453	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGGCCGACGTGCTCCAGTC	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17611	0.0		0.0	False		,,,				2504	0.0					ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(940-942)Gtg>Atg		kinesin family member 26A							72.0	75.0	74.0					14																	104638942		2094	4207	6301	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104638942G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1357G>A	14.37:g.104638942G>A	ENSP00000388241:p.Val453Met					KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M	p.V314M			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	6	1318	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	453					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.940G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445562	0.84101	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76060	-0.99;-0.99	4.25	4.25	0.50352	Kinesin, motor domain (4);	.	.	.	.	D	0.83372	0.5240	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85911	0.1440	9	0.87932	D	0	.	16.6587	0.85235	0.0:0.0:1.0:0.0	.	453	Q9ULI4	KI26A_HUMAN	M	453;314	ENSP00000388241:V453M;ENSP00000325452:V314M	ENSP00000325452:V314M	V	+	1	0	KIF26A	103708695	1.000000	0.71417	0.946000	0.38457	0.599000	0.36880	6.561000	0.73955	1.912000	0.55364	0.462000	0.41574	GTG		0.642	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			4	63	0	0	0	1	0	4	63				
BMX	660	broad.mit.edu	37	X	15561245	15561245	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:15561245T>A	ENST00000357607.2	+	16	1851	c.1663T>A	c.(1663-1665)Ttt>Att	p.F555I	BMX_ENST00000342014.6_Missense_Mutation_p.F555I|BMX_ENST00000348343.6_Missense_Mutation_p.F555I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGTATCTGACTTTGGAATGAC	0.418																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1663-1665)Ttt>Att		BMX non-receptor tyrosine kinase							209.0	177.0	188.0					X																	15561245		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15561245T>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1663T>A	X.37:g.15561245T>A	ENSP00000350224:p.Phe555Ile					BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I	p.F555I			P51813	BMX_HUMAN			16	1851	+	Hepatocellular(33;0.183)		555			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1663T>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828341	0.90955	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.96365	-3.99;-3.99;-3.99	4.78	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	D	0.98776	0.9588	H	0.98005	4.125	0.49213	D	0.999768	D	0.89917	1.0	D	0.91635	0.999	D	0.99091	1.0840	10	0.87932	D	0	.	12.2593	0.54640	0.0:0.0:0.0:1.0	.	555	P51813	BMX_HUMAN	I	555	ENSP00000350224:F555I;ENSP00000308774:F555I;ENSP00000340082:F555I	ENSP00000340082:F555I	F	+	1	0	BMX	15471166	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.106000	0.71511	1.565000	0.49641	0.412000	0.27726	TTT		0.418	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		31	115	0	0	0	1	0	31	115				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	129	0	0	0	1	0	4	129				
LRRN4CL	221091	broad.mit.edu	37	11	62455807	62455807	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62455807C>T	ENST00000317449.4	-	2	651	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	58						integral component of membrane (GO:0016021)				cervix(1)|kidney(1)	2						CCTTGCAGGGCACCTGCAGGT	0.682																																						ENST00000317449.4																			0				cervix(1)|kidney(1)	2						c.(172-174)gtG>gtA		LRRN4 C-terminal like							13.0	14.0	13.0					11																	62455807		2148	4213	6361	SO:0001819	synonymous_variant	221091					integral to membrane		g.chr11:62455807C>T	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"""Fibronectin type III domain containing"""	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.174G>A	11.37:g.62455807C>T							p.V58V	NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN			2	651	-			58					A8K5L9	Silent	SNP	ENST00000317449.4	37	c.174G>A	CCDS8030.1																																																																																				0.682	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		7	24	0	0	0	1	0	7	24				
FUBP1	8880	broad.mit.edu	37	1	78430433	78430433	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430433C>T	ENST00000370768.2	-	10	817		c.e10-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370767.1_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCTTGGCTTGCTAAAGCAGAA	0.373			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e10-1		far upstream element (FUSE) binding protein 1							106.0	108.0	107.0					1																	78430433		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430433C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.736-1G>A	1.37:g.78430433C>T						FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site				Q96AE4	FUBP1_HUMAN			10	823	-								Q12828	Splice_Site	SNP	ENST00000370768.2	37		CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193912	0.78902	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.69	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9346	0.70944	0.0:0.9303:0.0:0.0697	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78203021	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.082000	0.71318	2.678000	0.91216	0.650000	0.86243	.		0.373	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Intron	10	54	0	0	0	1	0	10	54				
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0					ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(400-402)aCg>aTg		cysteine-rich secretory protein 1		G	MET/THR,MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	435.0	342.0	374.0		401,401,401	-1.7	0.0	6	dbSNP_134	374	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	81,81,81	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	134/250,134/250,134/179	49814267	5,13001	2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814267G>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.401C>T	6.37:g.49814267G>A	ENSP00000338276:p.Thr134Met					CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	502	-	Lung NSC(77;0.0358)		134					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.401C>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407392	0.25378	9.08E-4	1.16E-4	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.04	-1.68	0.08212	CAP domain (3);	0.423075	0.17524	N	0.171152	T	0.03053	0.0090	M	0.87269	2.87	0.09310	N	1	B;B	0.32829	0.161;0.386	B;B	0.25759	0.024;0.063	T	0.28332	-1.0047	9	.	.	.	.	1.6413	0.02753	0.3404:0.1558:0.3826:0.1212	.	134;134	P54107-2;P54107	.;CRIS1_HUMAN	M	134	ENSP00000425020:T134M;ENSP00000338276:T134M;ENSP00000348044:T134M;ENSP00000331317:T134M;ENSP00000427589:T134M;ENSP00000441798:T134M	.	T	-	2	0	CRISP1	49922226	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.721000	0.00811	-0.338000	0.08413	0.561000	0.74099	ACG		0.398	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		4	86	0	0	0	1	0	4	86				
CEP152	22995	broad.mit.edu	37	15	49031241	49031241	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr15:49031241C>T	ENST00000380950.2	-	27	4525	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	CEP152_ENST00000399334.3_Silent_p.G1390G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1446					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AACTACCATCCCCAAACTGGA	0.448																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(4336-4338)ggG>ggA		centrosomal protein 152kDa							145.0	136.0	139.0					15																	49031241		1900	4133	6033	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49031241C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4338G>A	15.37:g.49031241C>T						CEP152_ENST00000399334.3_Silent_p.G1390G	p.G1446G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	27	4525	-		all_lung(180;0.0428)	1390					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.4338G>A	CCDS58361.1																																																																																				0.448	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		11	115	0	0	0	1	0	11	115				
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647320	33647320	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr16:33647320C>T	ENST00000558425.1	-	2	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T																								GAGTTATTGGCGTTGTCCCTG	0.498																																						ENST00000558425.1																			0											c.(280-282)Gcc>Acc									152.0	163.0	159.0					16																	33647320		1979	4156	6135	SO:0001583	missense	0							g.chr16:33647320C>T																												ENST00000558425.1:c.280G>A	16.37:g.33647320C>T	ENSP00000475107:p.Ala94Thr						p.A94T							2	279	-									Missense_Mutation	SNP	ENST00000558425.1	37	c.280G>A																																																																																					0.498	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				55	182	0	0	0	1	0	55	182				
AASDH	132949	broad.mit.edu	37	4	57221383	57221383	+	Silent	SNP	A	A	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr4:57221383A>G	ENST00000205214.6	-	6	1248	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000451613.1_Silent_p.Y356Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	356					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGGAATCCTATAAATGGTCG	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1066-1068)taT>taC		aminoadipate-semialdehyde dehydrogenase							78.0	75.0	76.0					4																	57221383		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221383A>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1068T>C	4.37:g.57221383A>G						AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.Y356Y	p.Y356Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			6	1248	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	356					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.1068T>C	CCDS3504.1																																																																																				0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		9	68	0	0	0	1	0	9	68				
NTN1	9423	broad.mit.edu	37	17	9083253	9083253	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:9083253C>T	ENST00000173229.2	+	4	1444	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F|RP11-85B7.2_ENST00000574307.2_RNA	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	446	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAGAGCCGCTCTCCCATCGCC	0.582																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1336-1338)tCt>tTt		netrin 1							60.0	50.0	53.0					17																	9083253		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9083253C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1337C>T	17.37:g.9083253C>T	ENSP00000173229:p.Ser446Phe					NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F	p.S446F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			4	1444	+			446			Laminin EGF-like 3.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1337C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108754	0.94292	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.63255	1.2;1.2;1.2;-0.03	5.77	5.77	0.91146	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87704	0.2562	10	0.72032	D	0.01	.	19.9716	0.97286	0.0:1.0:0.0:0.0	.	446	O95631	NET1_HUMAN	F	446;446;446;66	ENSP00000173229:S446F;ENSP00000443259:S446F;ENSP00000441611:S446F;ENSP00000389375:S66F	ENSP00000173229:S446F	S	+	2	0	NTN1	9023978	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.480000	0.81109	2.718000	0.92993	0.655000	0.94253	TCT		0.582	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			5	52	0	0	0	1	0	5	52				
MCM7	4176	broad.mit.edu	37	7	99697242	99697242	+	Silent	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:99697242T>C	ENST00000303887.5	-	3	891	c.246A>G	c.(244-246)caA>caG	p.Q82Q	AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Silent_p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	82					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGCAGCTCTTGTACGGCAT	0.532																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(244-246)caA>caG		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						147.0	145.0	146.0					7																	99697242		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99697242T>C		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.246A>G	7.37:g.99697242T>C						MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q	p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			3	891	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		82					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.246A>G	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	T	9.862	1.196581	0.22037	.	.	ENSG00000166508	ENST00000542483	.	.	.	4.56	-4.14	0.03892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1117	0.30917	0.1535:0.6156:0.0:0.2308	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99535178	0.621000	0.27077	0.703000	0.30354	0.874000	0.50279	-0.391000	0.07323	-0.685000	0.05177	0.455000	0.32223	.		0.532	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			43	69	0	0	0	1	0	43	69				
SYNJ2	8871	broad.mit.edu	37	6	158454620	158454620	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:158454620T>C	ENST00000355585.4	+	4	694	c.619T>C	c.(619-621)Tct>Cct	p.S207P	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	207	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCCTCGTCTCTCGCGTTAG	0.622																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(619-621)Tct>Cct		synaptojanin 2							98.0	75.0	83.0					6																	158454620		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454620T>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.619T>C	6.37:g.158454620T>C	ENSP00000347792:p.Ser207Pro					SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P	p.S207P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	4	694	+			207			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.619T>C	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734107	0.69189	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.09	5.09	0.68999	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000017	D	0.89574	0.6754	H	0.98849	4.35	0.80722	D	1	D;P;D;D	0.89917	1.0;0.93;1.0;1.0	D;P;D;D	0.87578	0.998;0.861;0.998;0.997	D	0.92990	0.6414	10	0.87932	D	0	.	15.0288	0.71691	0.0:0.0:0.0:1.0	.	156;207;207;207	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	P	207;207;207;156	ENSP00000356089:S207P;ENSP00000356088:S207P;ENSP00000347792:S207P;ENSP00000388371:S156P	ENSP00000347792:S207P	S	+	1	0	SYNJ2	158374608	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	4.468000	0.60162	2.660000	0.90430	0.591000	0.81541	TCT		0.622	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	53	0	0	0	1	0	4	53				
USP6	9098	broad.mit.edu	37	17	5039171	5039171	+	Silent	SNP	C	C	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5039171C>T	ENST00000574788.1	+	17	2842	c.612C>T	c.(610-612)gaC>gaT	p.D204D	USP6_ENST00000332776.4_Silent_p.D204D|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	204	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGAGGAGGACGCATTCTGGG	0.617			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(610-612)gaC>gaT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							112.0	95.0	101.0					17																	5039171		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5039171C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.612C>T	17.37:g.5039171C>T						USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D204D	p.D204D			P35125	UBP6_HUMAN			17	2842	+			204			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.612C>T	CCDS11069.2																																																																																				0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	66	0	0	0	1	0	6	66				
PM20D1	148811	broad.mit.edu	37	1	205819111	205819111	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:205819111G>T	ENST00000367136.4	-	1	134	c.90C>A	c.(88-90)agC>agA	p.S30R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	30					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCTCCCCGCTCCTCGGGC	0.602																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(88-90)agC>agA		peptidase M20 domain containing 1							80.0	80.0	80.0					1																	205819111		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819111G>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.90C>A	1.37:g.205819111G>T	ENSP00000356104:p.Ser30Arg					PM20D1_ENST00000460624.1_5'UTR	p.S30R	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	134	-	Breast(84;0.201)		30					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.90C>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	6.936	0.542463	0.13250	.	.	ENSG00000162877	ENST00000367136	T	0.06687	3.27	4.96	3.08	0.35506	.	0.928793	0.09305	N	0.820302	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46748	-0.9169	10	0.15066	T	0.55	.	6.0224	0.19636	0.0957:0.0:0.7174:0.1869	.	30	Q6GTS8	P20D1_HUMAN	R	30	ENSP00000356104:S30R	ENSP00000356104:S30R	S	-	3	2	PM20D1	204085734	0.014000	0.17966	0.001000	0.08648	0.003000	0.03518	1.767000	0.38501	0.659000	0.30945	0.655000	0.94253	AGC		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		4	77	1	0	0.184627	1	0.184627	4	77				
TTN	7273	broad.mit.edu	37	2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T	rs375211424		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:179429186C>T	ENST00000591111.1	-	276	76974	c.76750G>A	c.(76750-76752)Gta>Ata	p.V25584I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27225I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I			Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)		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)			GTTTCTAATACGTTGGTAAAG	0.383													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22092	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			5	Substitution - Missense(5)	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)	lung(5)	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						c.(81673-81675)Gta>Ata		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3702		0,0,1851	67.0	62.0	63.0		54478,73969,54853,55054	6.2	1.0	2		63	1,8193		0,1,4096	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,5947	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	18160/26927,24657/33424,18285/27052,18352/27119	179429186	1,11895	1851	4097	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429186C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76750G>A	2.37:g.179429186C>T	ENSP00000465570:p.Val25584Ile					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V27225I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81897	-			25584			Fibronectin type-III 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.81673G>A		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139278	0.37728	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42449	0.1203	N	0.21142	0.635	0.49687	D	0.999815	P;P;P;P	0.37083	0.581;0.581;0.581;0.581	B;B;B;B	0.30782	0.12;0.12;0.12;0.12	T	0.44251	-0.9340	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18160;18285;18352;25584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24657;18160;18352;18285;18158	ENSP00000343764:V24657I;ENSP00000434586:V18160I;ENSP00000340554:V18352I;ENSP00000352154:V18285I	ENSP00000340554:V18352I	V	-	1	0	TTN	179137432	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.850000	0.62889	2.937000	0.99478	0.650000	0.86243	GTA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	23	0	0	0	1	0	3	23				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	15	0	0	0	1	0	3	15				
EFHC2	80258	broad.mit.edu	37	X	44109649	44109649	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:44109649C>G	ENST00000420999.1	-	5	732	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	217							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTCAGGGTGTCGAGGGATTCG	0.438																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(649-651)Gac>Cac		EF-hand domain (C-terminal) containing 2							72.0	67.0	69.0					X																	44109649		1931	4122	6053	SO:0001583	missense	80258						calcium ion binding	g.chrX:44109649C>G	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.649G>C	X.37:g.44109649C>G	ENSP00000404232:p.Asp217His						p.D217H	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			5	732	-			217					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.649G>C	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.23|14.23	2.472836|2.472836	0.43942|0.43942	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.71341|.	-0.54;-0.56|.	5.8|5.8	4.87|4.87	0.63330|0.63330	.|.	0.158269|.	0.53938|.	D|.	0.000044|.	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.66560|0.66560	2.04|2.04	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.71674|.	0.998|.	D|.	0.64321|.	0.924|.	T|T	0.68838|0.68838	-0.5303|-0.5303	10|5	0.62326|.	D|.	0.03|.	-13.3733|-13.3733	12.7835|12.7835	0.57491|0.57491	0.0:0.9127:0.0:0.0873|0.0:0.9127:0.0:0.0873	.|.	217|.	Q5JST6|.	EFHC2_HUMAN|.	H|P	217;245;21|197	ENSP00000333823:D217H;ENSP00000404232:D245H|.	ENSP00000333823:D217H|.	D|R	-|-	1|2	0|0	EFHC2|EFHC2	43994593|43994593	0.797000|0.797000	0.28877|0.28877	0.189000|0.189000	0.23252|0.23252	0.007000|0.007000	0.05969|0.05969	1.495000|1.495000	0.35627|0.35627	1.070000|1.070000	0.40811|0.40811	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.438	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		6	33	0	0	0	1	0	6	33				
RNF19A	25897	broad.mit.edu	37	8	101287223	101287223	+	Missense_Mutation	SNP	G	G	A	rs547631774		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr8:101287223G>A	ENST00000519449.1	-	4	1157	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	281					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GATGAAGAACGTATAGTTCTC	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16555	0.0		0.0	False		,,,				2504	0.0					ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(841-843)Cgt>Tgt		ring finger protein 19A, RBR E3 ubiquitin protein ligase							82.0	81.0	82.0					8																	101287223		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101287223G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.841C>T	8.37:g.101287223G>A	ENSP00000428968:p.Arg281Cys					RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	p.R281C	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		4	1157	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		281					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.841C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487222	0.84854	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85013	-1.93;-1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	D	0.89669	0.3882	10	0.54805	T	0.06	.	19.2824	0.94057	0.0:0.0:1.0:0.0	.	281	Q9NV58	RN19A_HUMAN	C	281	ENSP00000428968:R281C;ENSP00000342667:R281C	ENSP00000342667:R281C	R	-	1	0	RNF19A	101356399	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.492000	0.81482	2.880000	0.98712	0.650000	0.86243	CGT		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		46	79	0	0	0	1	0	46	79				
TMEM40	55287	broad.mit.edu	37	3	12790221	12790221	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12790221G>T	ENST00000314124.7	-	3	500	c.144C>A	c.(142-144)aaC>aaA	p.N48K	TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	48						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						aagaagaCTTGTTTCTCTCAT	0.448																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(142-144)aaC>aaA		transmembrane protein 40							256.0	238.0	244.0					3																	12790221		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12790221G>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.144C>A	3.37:g.12790221G>T	ENSP00000322837:p.Asn48Lys					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K	p.N48K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	500	-			48					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.144C>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	G	3.612	-0.079315	0.07141	.	.	ENSG00000088726	ENST00000314124;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	3.62	1.82	0.25136	.	0.566531	0.15966	N	0.236012	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B;B;B	0.18310	0.027;0.0;0.007	B;B;B	0.14023	0.01;0.0;0.003	T	0.15723	-1.0427	9	0.52906	T	0.07	.	5.8145	0.18486	0.244:0.0:0.756:0.0	.	64;48;48	B4DXI0;Q8WWA1-2;Q8WWA1	.;.;TMM40_HUMAN	K	48;48;48;64	.	ENSP00000264728:N48K	N	-	3	2	TMEM40	12765221	0.997000	0.39634	0.032000	0.17829	0.071000	0.16799	0.811000	0.27198	0.518000	0.28383	0.561000	0.74099	AAC		0.448	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		47	124	1	0	3.76525e-18	1	4.14177e-18	47	124				
FUBP1	8880	broad.mit.edu	37	1	78430905	78430906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430905_78430906insT	ENST00000370768.2	-	8	564_565	c.483_484insA	c.(481-486)aaacggfs	p.R162fs	FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.R183fs|FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.R162fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	162	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCAGTAACCGTTTTGCTGACC	0.381			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(481-486)aaggttfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430905_78430906insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.484dupA	1.37:g.78430909_78430909dupT	ENSP00000359804:p.Arg162fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V183fs	p.V162fs			Q96AE4	FUBP1_HUMAN			8	570_571	-			162			KH 1.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.483_484insA	CCDS683.1																																																																																				0.381	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		8	75						8	75	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145610427	145610427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:145610427delC	ENST00000265271.5	+	6	963	c.797delC	c.(796-798)tccfs	p.S266fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	266					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGCTCTTCCAATTCTTTT	0.423																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(796-798)tcfs		RNA binding motif protein 27							125.0	109.0	114.0					5																	145610427		1568	3582	5150	SO:0001589	frameshift_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145610427delC	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.797delC	5.37:g.145610427delC	ENSP00000265271:p.Ser266fs					RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	963	+			266					Q8IYW9	Frame_Shift_Del	DEL	ENST00000265271.5	37	c.797delC	CCDS43378.1																																																																																				0.423	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		20	80						20	80	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	4						6	4	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45131690	45131691	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr20:45131690_45131691delAT	ENST00000347606.4	-	5	469_470	c.287_288delAT	c.(286-288)catfs	p.H96fs	ZNF334_ENST00000457685.2_Frame_Shift_Del_p.H58fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGTGTCAAATGTTTATCTTG	0.351																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(172-174)cfs		zinc finger protein 334																																				SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131690_45131691delAT	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.287_288delAT	20.37:g.45131690_45131691delAT	ENSP00000255129:p.His96fs					ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs	p.H58fs			Q9HCZ1	ZN334_HUMAN			6	1496_1497	-		Myeloproliferative disorder(115;0.0122)	96			KRAB.		Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	c.173_174delAT	CCDS33480.1																																																																																				0.351	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			27	33						27	33	---	---	---	---
U2AF1	7307	broad.mit.edu	37	21	44514659	44514661	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:44514659_44514661delCCT	ENST00000291552.4	-	7	587_589	c.495_497delAGG	c.(493-498)cgaggc>cgc	p.G167del	U2AF1_ENST00000398137.1_In_Frame_Del_p.G94del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_In_Frame_Del_p.G167del|U2AF1_ENST00000459639.1_In_Frame_Del_p.G94del	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	167					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCAGAAGCCGCCTCGTGTGCATT	0.571			Mis		"""CLL, MDS"""																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(274-279)cgc>cg		U2 small nuclear RNA auxiliary factor 1																																				SO:0001651	inframe_deletion	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44514659_44514661delCCT	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.495_497delAGG	21.37:g.44514659_44514661delCCT	ENSP00000291552:p.Gly167del					U2AF1_ENST00000398137.1_In_Frame_Del_p.RG92del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.RG165del|U2AF1_ENST00000380276.2_In_Frame_Del_p.RG165del	p.RG92del			Q01081	U2AF1_HUMAN			6	1300_1302	-			165			RRM.		Q701P4|Q71RF1	In_Frame_Del	DEL	ENST00000291552.4	37	c.276_278delAGG	CCDS13694.1																																																																																				0.571	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		8	63						8	63	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110988026	110988026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:110988026delT	ENST00000394780.3	+	24	2838	c.2826delT	c.(2824-2826)cctfs	p.P945fs	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	945	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ctcctcctcctcctcctcctg	0.572																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2824-2826)ccfs		ALG13, UDP-N-acetylglucosaminyltransferase subunit							32.0	24.0	26.0					X																	110988026		1568	3573	5141	SO:0001589	frameshift_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110988026delT	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2826delT	X.37:g.110988026delT	ENSP00000378260:p.Pro945fs					ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	p.P945fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			24	2838	+			945			Pro-rich.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	c.2826delT	CCDS55477.1																																																																																				0.572	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	4						2	4	---	---	---	---
