#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
TRAK2	66008	broad.mit.edu	37	2	202272251	202272251	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr2:202272251T>A	ENST00000332624.3	-	3	589	c.161A>T	c.(160-162)tAt>tTt	p.Y54F	TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	54	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TTTTAGCCTATACTGTGGTAG	0.448																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(160-162)tAt>tTt		trafficking protein, kinesin binding 2							126.0	115.0	119.0					2																	202272251		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272251T>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.161A>T	2.37:g.202272251T>A	ENSP00000328875:p.Tyr54Phe					TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F	p.Y54F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			3	589	-			54					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.161A>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650299	0.87958	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18502	2.21;2.21	4.8	4.8	0.61643	.	0.275870	0.25929	N	0.027394	T	0.38026	0.1025	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.983;0.989	T	0.18147	-1.0346	10	0.87932	D	0	.	14.4984	0.67704	0.0:0.0:0.0:1.0	.	54;54	E7EV21;O60296	.;TRAK2_HUMAN	F	54	ENSP00000328875:Y54F;ENSP00000409333:Y54F	ENSP00000328875:Y54F	Y	-	2	0	TRAK2	201980496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.147000	0.58078	2.004000	0.58718	0.460000	0.39030	TAT		0.448	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		18	46	0	0	0	1	0	18	46				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	23666							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	67	0	0	0	1	0	4	67				
COG7	91949	broad.mit.edu	37	16	23456408	23456408	+	Silent	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456408G>A	ENST00000307149.5	-	3	581	c.396C>T	c.(394-396)agC>agT	p.S132S	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CGCTCAACGTGCTCCACTTAT	0.448																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(394-396)agC>agT		component of oligomeric golgi complex 7							191.0	171.0	177.0					16																	23456408		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23456408G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.396C>T	16.37:g.23456408G>A							p.S132S	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	581	-			132					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.396C>T	CCDS10610.1																																																																																				0.448	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			29	92	0	0	0	1	0	29	92				
CTDSP2	10106	broad.mit.edu	37	12	58217721	58217721	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:58217721G>C	ENST00000398073.2	-	7	959	c.656C>G	c.(655-657)tCg>tGg	p.S219W	MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	219	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					AGAAGCAGGCGAGTTGTCCAG	0.582																																						ENST00000398073.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(655-657)tCg>tGg		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							43.0	46.0	45.0					12																	58217721		2039	4190	6229	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58217721G>C	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.656C>G	12.37:g.58217721G>C	ENSP00000381148:p.Ser219Trp					CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W	p.S219W	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			7	959	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		219			FCP1 homology.		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.656C>G	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473614	0.84640	.	.	ENSG00000175215	ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.43	5.43	0.79202	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	H	0.99726	4.73	0.80722	D	1	P;P;D	0.89917	0.955;0.863;1.0	P;P;D	0.73708	0.661;0.793;0.981	D	0.83604	0.0130	10	0.87932	D	0	-2.5271	18.1553	0.89689	0.0:0.0:1.0:0.0	.	93;46;219	B4DH48;F8W1I1;O14595	.;.;CTDS2_HUMAN	W	219;46;73;67	ENSP00000381148:S219W;ENSP00000447046:S46W;ENSP00000448386:S73W;ENSP00000446705:S67W	ENSP00000381148:S219W	S	-	2	0	CTDSP2	56503988	1.000000	0.71417	0.971000	0.41717	0.594000	0.36715	9.575000	0.98187	2.822000	0.97130	0.563000	0.77884	TCG		0.582	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		6	18	0	0	0	1	0	6	18				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	24	0	0	0	1	0	4	24				
IRX6	79190	broad.mit.edu	37	16	55361281	55361281	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:55361281C>T	ENST00000290552.7	+	3	1709	c.377C>T	c.(376-378)cCc>cTc	p.P126L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	126					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P126L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCTATTATCCCTATGAGCGG	0.512																																						ENST00000290552.7																			1	Substitution - Missense(1)	p.P126L(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(376-378)cCc>cTc		iroquois homeobox 6							74.0	73.0	73.0					16																	55361281		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361281C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.377C>T	16.37:g.55361281C>T	ENSP00000290552:p.Pro126Leu					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.P126L	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			3	1709	+			126					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.377C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681088	0.88542	.	.	ENSG00000159387	ENST00000290552	D	0.92348	-3.02	5.55	5.55	0.83447	.	0.292989	0.38436	N	0.001691	D	0.93776	0.8010	M	0.85945	2.785	0.80722	D	1	P;P	0.50066	0.563;0.931	B;B	0.44224	0.265;0.444	D	0.94567	0.7767	10	0.72032	D	0.01	-4.3068	19.3061	0.94163	0.0:1.0:0.0:0.0	.	126;25	P78412;Q9BZI2	IRX6_HUMAN;.	L	126	ENSP00000290552:P126L	ENSP00000290552:P126L	P	+	2	0	IRX6	53918782	0.998000	0.40836	0.932000	0.37286	0.958000	0.62258	7.148000	0.77389	2.894000	0.99253	0.655000	0.94253	CCC		0.512	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		14	48	0	0	0	1	0	14	48				
GPR135	64582	broad.mit.edu	37	14	59930963	59930963	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:59930963G>A	ENST00000395116.1	-	1	1097	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTGGCCGTGCGCACCTCGCTG	0.672																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(982-984)Cgc>Tgc		G protein-coupled receptor 135							22.0	23.0	23.0					14																	59930963		2195	4294	6489	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930963G>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.982C>T	14.37:g.59930963G>A	ENSP00000378548:p.Arg328Cys						p.R328C	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1097	-			328					Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.982C>T	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.885777	0.72410	.	.	ENSG00000181619	ENST00000395116	T	0.45276	0.9	4.31	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.66436	0.2789	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71586	-0.4548	10	0.87932	D	0	-13.2337	11.4278	0.50020	0.0:0.0:0.6723:0.3277	.	328	Q8IZ08	GP135_HUMAN	C	328	ENSP00000378548:R328C	ENSP00000378548:R328C	R	-	1	0	GPR135	59000716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.566000	0.45948	0.984000	0.38629	0.558000	0.71614	CGC		0.672	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		3	31	0	0	0	1	0	3	31				
GDAP1	54332	broad.mit.edu	37	8	75263599	75263599	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr8:75263599C>T	ENST00000220822.7	+	2	288	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	70	GST N-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R70C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTGGTTTATGCGTTTGAACTC	0.453																																						ENST00000220822.7																			1	Substitution - Missense(1)	p.R70C(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(208-210)Cgt>Tgt		ganglioside induced differentiation associated protein 1							343.0	291.0	309.0					8																	75263599		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75263599C>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.208C>T	8.37:g.75263599C>T	ENSP00000220822:p.Arg70Cys					GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C	p.R70C	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		2	288	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	70			GST N-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.208C>T	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407363	0.83230	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	T;T	0.48201	1.66;0.82	5.17	5.17	0.71159	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.119635	0.64402	D	0.000015	T	0.77811	0.4186	M	0.93420	3.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.83650	0.0155	10	0.72032	D	0.01	-26.7646	18.8518	0.92235	0.0:1.0:0.0:0.0	.	70	Q8TB36	GDAP1_HUMAN	C	70;2	ENSP00000220822:R70C;ENSP00000417006:R2C	ENSP00000220822:R70C	R	+	1	0	GDAP1	75426154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.570000	0.53834	2.678000	0.91216	0.655000	0.94253	CGT		0.453	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		4	180	0	0	0	1	0	4	180				
OXA1L	5018	broad.mit.edu	37	14	23235834	23235834	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:23235834G>A	ENST00000285848.5	+	1	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H	OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTTCATGCCCGCCTCCAAAAG	0.522																																						ENST00000285848.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(103-105)cGc>cAc		oxidase (cytochrome c) assembly 1-like							107.0	117.0	114.0					14																	23235834		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235834G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.104G>A	14.37:g.23235834G>A	ENSP00000285848:p.Arg35His						p.R35H	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	104	+	all_cancers(95;8.44e-05)		0					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.104G>A	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156987	0.38119	.	.	ENSG00000155463	ENST00000285848	T	0.32023	1.47	5.32	-4.41	0.03590	.	1.138140	0.06846	N	0.796654	T	0.14960	0.0361	N	0.08118	0	0.37434	D	0.914168	B	0.02656	0.0	B	0.04013	0.001	T	0.05099	-1.0906	10	0.87932	D	0	-0.0736	8.1573	0.31176	0.3456:0.1428:0.5116:0.0	.	35	Q2M1J6	.	H	35	ENSP00000285848:R35H	ENSP00000285848:R35H	R	+	2	0	OXA1L	22305674	0.001000	0.12720	0.358000	0.25811	0.169000	0.22640	-0.658000	0.05329	-1.068000	0.03156	-0.302000	0.09304	CGC		0.522	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		4	137	0	0	0	1	0	4	137				
SORBS1	10580	broad.mit.edu	37	10	97141496	97141496	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:97141496C>A	ENST00000361941.3	-	16	1625	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N|SORBS1_ENST00000371247.2_Missense_Mutation_p.K533N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGTAAATGCTCTTGGGCTCTG	0.398																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1597-1599)aaG>aaT		sorbin and SH3 domain containing 1							220.0	211.0	214.0					10																	97141496		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97141496C>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1599G>T	10.37:g.97141496C>A	ENSP00000355136:p.Lys533Asn					SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000361941.3_Missense_Mutation_p.K533N|SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N	p.K533N			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	18	1788	-		Colorectal(252;0.0429)	533						Missense_Mutation	SNP	ENST00000361941.3	37	c.1599G>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195752	0.58126	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.98	4.86	0.63082	.	0.159634	0.29699	N	0.011431	T	0.52041	0.1710	L	0.34521	1.04	0.43230	D	0.995122	D;D;D;P;P;B;D;D;D;D;D;P;P	0.76494	0.999;0.993;0.992;0.941;0.889;0.403;0.987;0.986;0.986;0.996;0.974;0.954;0.611	P;P;P;P;P;P;P;D;P;D;P;P;B	0.63283	0.864;0.866;0.882;0.811;0.705;0.557;0.888;0.913;0.765;0.912;0.839;0.81;0.103	T	0.46762	-0.9168	10	0.45353	T	0.12	-7.8724	9.3148	0.37928	0.0:0.2169:0.0:0.7831	.	685;332;487;455;364;323;332;418;533;555;401;503;111	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	N	418;364;455;533;487;555;503;418;401;533;555;323;503;332	ENSP00000360291:K418N;ENSP00000302556:K364N;ENSP00000360295:K455N;ENSP00000360293:K533N;ENSP00000360271:K487N;ENSP00000360292:K555N;ENSP00000377521:K503N;ENSP00000343998:K418N;ENSP00000277985:K401N;ENSP00000355136:K533N;ENSP00000277982:K555N;ENSP00000360285:K323N;ENSP00000277984:K503N;ENSP00000360283:K332N	ENSP00000277982:K555N	K	-	3	2	SORBS1	97131486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.928000	0.40104	0.529000	0.28599	-0.332000	0.08345	AAG		0.398	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			13	54	1	0	2.27111e-07	1	2.4686e-07	13	54				
CDC73	79577	broad.mit.edu	37	1	193219826	193219826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:193219826C>A	ENST00000367435.3	+	17	1764	c.1580C>A	c.(1579-1581)tCg>tAg	p.S527*	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	527	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAGCATAAATCGCACTTGAGA	0.294																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(1579-1581)tCg>tAg		cell division cycle 73							69.0	70.0	70.0					1																	193219826		2201	4297	6498	SO:0001587	stop_gained	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193219826C>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1580C>A	1.37:g.193219826C>A	ENSP00000356405:p.Ser527*					CDC73_ENST00000477868.1_3'UTR	p.S527*	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			17	1764	+			527					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Nonsense_Mutation	SNP	ENST00000367435.3	37	c.1580C>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	37	6.288108	0.97444	.	.	ENSG00000134371	ENST00000367435	.	.	.	6.01	6.01	0.97437	.	0.058313	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-12.8098	20.5211	0.99222	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000356405:S527X	S	+	2	0	CDC73	191486449	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.958000	0.76025	2.861000	0.98227	0.650000	0.86243	TCG		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		4	40	1	0	0.014758	1	0.014758	4	40				
MYO1H	283446	broad.mit.edu	37	12	109844593	109844593	+	Splice_Site	SNP	G	G	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:109844593G>A	ENST00000431443.2	+	8	915		c.e8-1		MYO1H_ENST00000310903.5_Splice_Site|MYO1H_ENST00000542883.1_Splice_Site	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH							myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTACATGCAGCTCCTGGGGG	0.433																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e9-1		myosin IH							103.0	89.0	93.0					12																	109844593		1859	4104	5963	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109844593G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.916-1G>A	12.37:g.109844593G>A						MYO1H_ENST00000542883.1_Splice_Site|MYO1H_ENST00000431443.2_Splice_Site				B4DNW6	B4DNW6_HUMAN			9	1021	+								F5H3C6	Splice_Site	SNP	ENST00000431443.2	37			.	.	.	.	.	.	.	.	.	.	G	18.05	3.538034	0.65085	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.229	0.86979	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1H	108328976	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.872000	0.92352	2.313000	0.78055	0.650000	0.86243	.		0.433	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Intron	7	40	0	0	0	1	0	7	40				
SLC9A8	23315	broad.mit.edu	37	20	48491289	48491289	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr20:48491289C>A	ENST00000361573.2	+	11	1048	c.1006C>A	c.(1006-1008)Cac>Aac	p.H336N	SLC9A8_ENST00000417961.1_Missense_Mutation_p.H352N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	336					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCACTACACGCACCATAACCT	0.557																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1054-1056)Cac>Aac		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							310.0	216.0	247.0					20																	48491289		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48491289C>A	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1006C>A	20.37:g.48491289C>A	ENSP00000354966:p.His336Asn					SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.H336N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N	p.H352N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		11	1264	+			336					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1054C>A	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132997	0.94517	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.64	5.64	0.86602	Cation/H+ exchanger (1);	0.046754	0.85682	D	0.000000	T	0.43678	0.1258	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.979	T	0.24905	-1.0147	10	0.72032	D	0.01	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	117;336	B4DIX7;Q9Y2E8	.;SL9A8_HUMAN	N	352;336;36;117	ENSP00000416418:H352N;ENSP00000354966:H336N;ENSP00000441615:H36N;ENSP00000441716:H117N	ENSP00000354966:H336N	H	+	1	0	SLC9A8	47924696	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	7.575000	0.82447	2.657000	0.90304	0.655000	0.94253	CAC		0.557	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		15	52	1	0	4.14922e-12	1	4.71502e-12	15	52				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	164	0	0	0	1	0	6	164				
YME1L1	10730	broad.mit.edu	37	10	27409416	27409416	+	Silent	SNP	T	T	C	rs370570592		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:27409416T>C	ENST00000326799.3	-	14	1678	c.1530A>G	c.(1528-1530)aaA>aaG	p.K510K	YME1L1_ENST00000375972.3_Silent_p.K420K|YME1L1_ENST00000376016.3_Silent_p.K453K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	510					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTTCGACCTTTTACATCTG	0.313																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1528-1530)aaA>aaG		YME1-like 1 ATPase		T	,	1,4405	2.1+/-5.4	0,1,2202	98.0	95.0	96.0		1359,1530	4.6	0.9	10		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	YME1L1	NM_014263.2,NM_139312.1	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	453/717,510/774	27409416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27409416T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1530A>G	10.37:g.27409416T>C						YME1L1_ENST00000376016.3_Silent_p.K453K|YME1L1_ENST00000375972.3_Silent_p.K420K	p.K510K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			14	1678	-			510					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1530A>G	CCDS7152.1																																																																																				0.313	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	58	0	0	0	1	0	3	58				
ZNF182	7569	broad.mit.edu	37	X	47836774	47836774	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:47836774C>T	ENST00000396965.1	-	7	1062	c.712G>A	c.(712-714)Gca>Aca	p.A238T	ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T|ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTCCTACATGCAGTACATTCA	0.418																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(712-714)Gca>Aca		zinc finger protein 182							79.0	76.0	77.0					X																	47836774		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836774C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.712G>A	X.37:g.47836774C>T	ENSP00000380165:p.Ala238Thr					ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T|ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T	p.A238T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1062	-			238					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.712G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012158	0.35511	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07567	3.18;3.18;3.18	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07999	0.0200	N	0.01493	-0.835	0.25859	N	0.98384	P;P;B	0.47106	0.869;0.89;0.062	P;P;B	0.56343	0.796;0.707;0.113	T	0.44251	-0.9340	9	0.72032	D	0.01	.	13.3752	0.60734	0.0:1.0:0.0:0.0	.	218;219;238	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	T	219;238;238	ENSP00000366142:A219T;ENSP00000380165:A238T;ENSP00000306351:A238T	ENSP00000306351:A238T	A	-	1	0	ZNF182	47721718	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.043000	0.13971	2.110000	0.64415	0.594000	0.82650	GCA		0.418	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		11	101	0	0	0	1	0	11	101				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	159	0	0	0	1	0	4	159				
COG7	91949	broad.mit.edu	37	16	23456409	23456409	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456409C>T	ENST00000307149.5	-	3	580	c.395G>A	c.(394-396)aGc>aAc	p.S132N	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTCAACGTGCTCCACTTATC	0.443																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(394-396)aGc>aAc		component of oligomeric golgi complex 7							191.0	170.0	177.0					16																	23456409		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23456409C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.395G>A	16.37:g.23456409C>T	ENSP00000305442:p.Ser132Asn						p.S132N	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	580	-			132					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.395G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446821	0.84101	.	.	ENSG00000168434	ENST00000307149	T	0.50001	0.76	5.55	5.55	0.83447	.	0.111464	0.85682	D	0.000000	T	0.60418	0.2267	L	0.61218	1.895	0.50467	D	0.999873	D	0.59767	0.986	P	0.57846	0.828	T	0.55933	-0.8062	10	0.30078	T	0.28	-32.8161	15.6795	0.77357	0.0:0.863:0.137:0.0	.	132	P83436	COG7_HUMAN	N	132	ENSP00000305442:S132N	ENSP00000305442:S132N	S	-	2	0	COG7	23363910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.895000	0.63214	2.601000	0.87937	0.579000	0.79373	AGC		0.443	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			29	89	0	0	0	1	0	29	89				
ST14	6768	broad.mit.edu	37	11	130068267	130068267	+	Silent	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr11:130068267C>T	ENST00000278742.5	+	13	1942	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	508	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCTGGGTCTGCGACAGTGTGA	0.672																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1522-1524)tgC>tgT		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						89.0	89.0	89.0					11																	130068267		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130068267C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1524C>T	11.37:g.130068267C>T							p.C508C	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	13	1942	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	508			LDL-receptor class A 2.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1524C>T	CCDS8487.1																																																																																				0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			4	125	0	0	0	1	0	4	125				
LRP8	7804	broad.mit.edu	37	1	53728167	53728167	+	Silent	SNP	C	C	T			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:53728167C>T	ENST00000306052.6	-	11	1826	c.1725G>A	c.(1723-1725)cgG>cgA	p.R575R	LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	575					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCAGTGTTTGCCGGTCCACAC	0.512																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1723-1725)cgG>cgA		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							223.0	219.0	220.0					1																	53728167		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728167C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1725G>A	1.37:g.53728167C>T						LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R	p.R575R	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1826	-			575					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1725G>A	CCDS578.1																																																																																				0.512	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		4	145	0	0	0	1	0	4	145				
SHISA4	149345	broad.mit.edu	37	1	201860531	201860531	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:201860531C>G	ENST00000362011.6	+	4	669	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	RP11-307B6.3_ENST00000414927.1_RNA|SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	128						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CCATCTAGGCCAGGAGATTCC	0.592																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(382-384)Cag>Gag		shisa family member 4							106.0	105.0	105.0					1																	201860531		2203	4300	6503	SO:0001583	missense	149345					integral to membrane		g.chr1:201860531C>G	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.382C>G	1.37:g.201860531C>G	ENSP00000355064:p.Gln128Glu					SHISA4_ENST00000464117.1_3'UTR	p.Q128E	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN			4	669	+			128					B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	ENST00000362011.6	37	c.382C>G	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244594	0.59103	.	.	ENSG00000198892	ENST00000362011	T	0.42900	0.96	5.17	5.17	0.71159	.	0.131328	0.52532	D	0.000079	T	0.54759	0.1878	M	0.62723	1.935	0.58432	D	0.999992	D	0.53312	0.959	D	0.64687	0.928	T	0.50750	-0.8791	10	0.07175	T	0.84	0.0073	14.1503	0.65378	0.0:1.0:0.0:0.0	.	128	Q96DD7	SHSA4_HUMAN	E	128	ENSP00000355064:Q128E	ENSP00000355064:Q128E	Q	+	1	0	SHISA4	200127154	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.940000	0.49003	2.406000	0.81754	0.561000	0.74099	CAG		0.592	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		7	57	0	0	0	1	0	7	57				
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(67-69)ggfs		caspase 5, apoptosis-related cysteine peptidase			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR	p.R24fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	98	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	11					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.67delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		10	64						10	64	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	5						3	5	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	4						3	4	---	---	---	---
