#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBR4	23352	broad.mit.edu	37	1	19451143	19451143	+	Silent	SNP	T	T	G			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr1:19451143T>G	ENST00000375254.3	-	65	9507	c.9480A>C	c.(9478-9480)ctA>ctC	p.L3160L	UBR4_ENST00000375226.2_Silent_p.L3136L|UBR4_ENST00000375267.2_Silent_p.L3160L|UBR4_ENST00000375217.2_Silent_p.L3153L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCATTTCTGTTAGAAGCTGAG	0.423																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9478-9480)CTA>CTC		retinoblastoma-associated factor 600							167.0	157.0	160.0					1																	19451143		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451143T>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9480A>C	1.37:g.19451143T>G						UBR4_uc001bbk.1_Silent_p.L807L	p.L3160L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	65	9484	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3160					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9480A>C	CCDS189.1																																																																																				0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		14	44	0	0	0	0	14	44				
ZNRF1	84937	broad.mit.edu	37	16	75146279	75146279	+	IGR	SNP	A	A	G			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr16:75146279A>G	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Missense_Mutation_p.L477P|LDHD_ENST00000300051.4_Missense_Mutation_p.L500P|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TGGATTCATGAGGCCTTGGGG	0.622																																						uc002fdm.2		NA																	0					0						c.(1498-1500)CTC>CCC		D-lactate dehydrogenase isoform 1 precursor							37.0	38.0	38.0					16																	75146279		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146279A>G	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146279A>G						LDHD_uc002fdn.2_Missense_Mutation_p.L477P	p.L500P	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			11	1546	-			500					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1499T>C	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.174987	0.78564	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.84730	-1.89;-1.89	5.31	5.31	0.75309	Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.220213	0.39687	N	0.001291	D	0.94456	0.8216	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.95909	0.8921	10	0.87932	D	0	-12.0173	14.4405	0.67314	1.0:0.0:0.0:0.0	.	477;500	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	P	477;500	ENSP00000417011:L477P;ENSP00000300051:L500P	ENSP00000300051:L500P	L	-	2	0	LDHD	73703780	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.507000	0.90522	2.016000	0.59253	0.482000	0.46254	CTC		0.622	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			3	37	0	0	0	0	3	37				
MYO1D	4642	broad.mit.edu	37	17	30821787	30821787	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr17:30821787G>T	ENST00000318217.5	-	22	3315	c.3011C>A	c.(3010-3012)cCc>cAc	p.P1004H	MYO1D_ENST00000394649.4_Missense_Mutation_p.P916H|RP11-466A19.1_ENST00000581360.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	1004	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCAGTTCCCGGGCACGCTGAG	0.682																																						uc002hho.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3010-3012)CCC>CAC		myosin ID							44.0	37.0	39.0					17																	30821787		2203	4298	6501	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30821787G>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.3011C>A	17.37:g.30821787G>T	ENSP00000324527:p.Pro1004His						p.P1004H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		22	3023	-			1004					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.3011C>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782519	0.90282	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.40756	1.02	4.69	4.69	0.59074	Myosin tail 2 (1);	0.000000	0.31760	U	0.007120	T	0.60779	0.2295	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64202	-0.6463	10	0.87932	D	0	.	15.2236	0.73333	0.0:0.0:1.0:0.0	.	1004	O94832	MYO1D_HUMAN	H	1004;196	ENSP00000324527:P1004H	ENSP00000324527:P1004H	P	-	2	0	MYO1D	27845900	1.000000	0.71417	0.983000	0.44433	0.955000	0.61496	9.183000	0.94887	2.432000	0.82394	0.650000	0.86243	CCC		0.682	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			7	11	1	0	0.00198382	0.00566432	7	11				
PDYN	5173	broad.mit.edu	37	20	1961249	1961249	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr20:1961249T>G	ENST00000217305.2	-	4	710	c.485A>C	c.(484-486)tAt>tCt	p.Y162S	PDYN_ENST00000540134.1_Missense_Mutation_p.Y162S|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.Y162S	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	162					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAGCGAGATAGAGTGTGCC	0.597																																						uc010gaj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(484-486)TAT>TCT		beta-neoendorphin-dynorphin preproprotein							112.0	108.0	109.0					20																	1961249		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961249T>G		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.485A>C	20.37:g.1961249T>G	ENSP00000217305:p.Tyr162Ser					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y162S|PDYN_uc010zpt.1_Missense_Mutation_p.Y7S	p.Y162S	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	727	-			162					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.485A>C	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	T	6.631	0.484924	0.12641	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.79845	-1.31;-1.31;-1.31	4.71	2.43	0.29744	.	1.592280	0.03223	N	0.177935	T	0.63390	0.2507	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	10	0.15499	T	0.54	-0.3444	1.7083	0.02887	0.271:0.3194:0.0:0.4096	.	162	P01213	PDYN_HUMAN	S	162	ENSP00000440185:Y162S;ENSP00000442259:Y162S;ENSP00000217305:Y162S	ENSP00000217305:Y162S	Y	-	2	0	PDYN	1909249	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.102000	0.10956	0.259000	0.21709	0.402000	0.26972	TAT		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			5	94	0	0	0	0	5	94				
PLCB1	23236	broad.mit.edu	37	20	8678323	8678323	+	Silent	SNP	C	C	T	rs563074402		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr20:8678323C>T	ENST00000338037.6	+	11	1087	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	PLCB1_ENST00000378641.3_Silent_p.L354L|PLCB1_ENST00000378637.2_Silent_p.L354L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	354	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAAGTGCTCCTGTCTGGTTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18172	0.001		0.0	False		,,,				2504	0.0					uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1060-1062)CTG>TTG		phosphoinositide-specific phospholipase C beta 1							235.0	204.0	214.0					20																	8678323		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678323C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1060C>T	20.37:g.8678323C>T						PLCB1_uc010zrb.1_Silent_p.L253L|PLCB1_uc002wna.2_Silent_p.L354L|PLCB1_uc002wnc.1_Silent_p.L253L	p.L354L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			11	1063	+			354			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.1060C>T	CCDS13102.1																																																																																				0.502	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			38	86	0	0	0	0	38	86				
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4195-4197)GAT>AAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn						p.D1399N	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		32	24	0	0	0	0	32	24				
PRR23A	729627	broad.mit.edu	37	3	138724434	138724434	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:138724434A>G	ENST00000383163.2	-	1	676	c.677T>C	c.(676-678)gTc>gCc	p.V226A	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	226	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						TGAGCTGGGGACAGGCTCCAG	0.682																																						uc011bms.1		NA																	0					0						c.(676-678)GTC>GCC		proline rich 23A							33.0	38.0	37.0					3																	138724434		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724434A>G		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.677T>C	3.37:g.138724434A>G	ENSP00000372649:p.Val226Ala						p.V226A	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	677	-			226			Pro-rich.			Missense_Mutation	SNP	ENST00000383163.2	37	c.677T>C	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460600	0.26248	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	0.754	0.18410	.	1.180570	0.06208	N	0.684507	T	0.34542	0.0901	L	0.57536	1.79	0.09310	N	1	B	0.33694	0.421	B	0.30105	0.111	T	0.30621	-0.9972	9	0.46703	T	0.11	.	2.3891	0.04374	0.6239:0.0:0.1353:0.2408	.	226	A6NEV1	PR23A_HUMAN	A	226	.	ENSP00000372649:V226A	V	-	2	0	PRR23A	140207124	0.017000	0.18338	0.001000	0.08648	0.007000	0.05969	0.915000	0.28638	0.156000	0.19299	0.482000	0.46254	GTC		0.682	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		6	17	0	0	0	0	6	17				
KPNA4	3840	broad.mit.edu	37	3	160239585	160239585	+	Silent	SNP	G	G	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:160239585G>A	ENST00000334256.4	-	11	1190	c.885C>T	c.(883-885)caC>caT	p.H295H		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	295					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TAACTTCCTGGTGGCTGAGCA	0.388																																						uc003fdn.2		NA																	0					0						c.(883-885)CAC>CAT		karyopherin alpha 4							104.0	108.0	106.0					3																	160239585		2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160239585G>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.885C>T	3.37:g.160239585G>A							p.H295H	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		11	1191	-			295			ARM 6.		A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.885C>T	CCDS3191.1																																																																																				0.388	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		53	79	0	0	0	0	53	79				
NAALADL2	254827	broad.mit.edu	37	3	174974236	174974236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:174974236G>A	ENST00000454872.1	+	4	984	c.856G>A	c.(856-858)Gat>Aat	p.D286N	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	286						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATGGCAGATGATTTAAAAAG	0.363																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(856-858)GAT>AAT		N-acetylated alpha-linked acidic dipeptidase 2							90.0	83.0	85.0					3																	174974236		1826	4083	5909	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174974236G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.856G>A	3.37:g.174974236G>A	ENSP00000404705:p.Asp286Asn					NAALADL2_uc003fiu.1_Missense_Mutation_p.D279N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D108N|NAALADL2_uc010hwz.1_5'UTR	p.D286N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	4	943	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	286			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.856G>A	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554841	0.65425	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.72051	-0.62	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000006	D	0.86426	0.5930	M	0.89214	3.015	0.35596	D	0.807443	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.91291	0.5059	10	0.87932	D	0	-25.4591	15.5016	0.75703	0.0:0.0:1.0:0.0	.	269;286	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	N	286;93	ENSP00000404705:D286N	ENSP00000314951:D93N	D	+	1	0	NAALADL2	176456930	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.353000	0.66034	2.716000	0.92895	0.545000	0.68477	GAT		0.363	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		14	78	0	0	0	0	14	78				
SLC4A4	8671	broad.mit.edu	37	4	72319250	72319250	+	Missense_Mutation	SNP	C	C	G	rs138493429		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:72319250C>G	ENST00000264485.5	+	12	1478	c.1361C>G	c.(1360-1362)gCg>gGg	p.A454G	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.A410G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A454G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A454G|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A410G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	454					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGAGGAAAGCGCCATTTTTT	0.343																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1360-1362)GCG>GGG		solute carrier family 4, sodium bicarbonate							197.0	200.0	199.0					4																	72319250		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319250C>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1361C>G	4.37:g.72319250C>G	ENSP00000264485:p.Ala454Gly					SLC4A4_uc010iic.2_Missense_Mutation_p.A454G|SLC4A4_uc010iib.2_Missense_Mutation_p.A454G|SLC4A4_uc003hfz.2_Missense_Mutation_p.A454G|SLC4A4_uc003hgc.3_Missense_Mutation_p.A410G|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.A332G|SLC4A4_uc003hgb.3_Missense_Mutation_p.A410G	p.A454G	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1478	+			454			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1361C>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957908	0.53400	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	6.03	4.3	0.51218	Bicarbonate transporter, C-terminal (1);	0.193999	0.53938	D	0.000045	D	0.88629	0.6488	M	0.83118	2.625	0.80722	D	1	P;D;P;P;D;B	0.65815	0.828;0.995;0.601;0.901;0.971;0.188	P;D;B;P;D;B	0.65443	0.678;0.935;0.345;0.762;0.911;0.319	D	0.88446	0.3045	10	0.37606	T	0.19	.	13.4872	0.61373	0.0:0.8717:0.0:0.1283	.	454;454;410;410;434;454	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	G	454;454;454;410;410	ENSP00000264485:A454G;ENSP00000393557:A454G;ENSP00000307349:A454G;ENSP00000422400:A410G;ENSP00000344272:A410G	ENSP00000264485:A454G	A	+	2	0	SLC4A4	72538114	0.929000	0.31497	1.000000	0.80357	0.963000	0.63663	0.215000	0.17562	1.571000	0.49722	-0.126000	0.14955	GCG		0.343	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		28	113	0	0	0	0	28	113				
ACSL1	2180	broad.mit.edu	37	4	185684332	185684332	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:185684332C>T	ENST00000515030.1	-	16	1835	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	ACSL1_ENST00000504342.1_Missense_Mutation_p.G504S|ACSL1_ENST00000437665.3_Missense_Mutation_p.G333S|ACSL1_ENST00000513317.1_Missense_Mutation_p.G504S|ACSL1_ENST00000507295.1_Missense_Mutation_p.G470S|ACSL1_ENST00000281455.2_Missense_Mutation_p.G504S|ACSL1_ENST00000454703.2_Missense_Mutation_p.G333S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGCCCTCGCCCTCGGCAGCC	0.488																																						uc003iww.2		NA																	0				ovary(2)	2						c.(1510-1512)GGC>AGC		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						66.0	64.0	65.0					4																	185684332		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185684332C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1510G>A	4.37:g.185684332C>T	ENSP00000422607:p.Gly504Ser					ACSL1_uc011ckm.1_Missense_Mutation_p.G333S|ACSL1_uc003iwt.1_Missense_Mutation_p.G504S|ACSL1_uc003iwu.1_Missense_Mutation_p.G504S|ACSL1_uc011ckn.1_Missense_Mutation_p.G470S|ACSL1_uc003iws.1_Missense_Mutation_p.G74S	p.G504S	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	16	1804	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	504			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1510G>A	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192930	0.94960	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.6	5.6	0.85130	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	L	0.54863	1.705	0.80722	D	1	D;P;P;P	0.53745	0.962;0.951;0.951;0.939	P;P;P;P	0.61940	0.896;0.596;0.596;0.461	T	0.54964	-0.8214	10	0.41790	T	0.15	-19.6752	19.5961	0.95538	0.0:1.0:0.0:0.0	.	470;504;504;504	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	S	333;504;110;504;470;333;504;504	ENSP00000407165:G333S;ENSP00000422607:G504S;ENSP00000425098:G110S;ENSP00000281455:G504S;ENSP00000426244:G470S;ENSP00000405687:G333S;ENSP00000425006:G504S;ENSP00000426150:G504S	ENSP00000281455:G504S	G	-	1	0	ACSL1	185921326	1.000000	0.71417	0.987000	0.45799	0.621000	0.37620	5.971000	0.70440	2.624000	0.88883	0.655000	0.94253	GGC		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		10	28	0	0	0	0	10	28				
ARSI	340075	broad.mit.edu	37	5	149676844	149676844	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr5:149676844C>A	ENST00000328668.7	-	2	2222	c.1643G>T	c.(1642-1644)tGc>tTc	p.C548F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	548					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAATCTTGCATTTTTTCTT	0.527																																						uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1642-1644)TGC>TTC		arylsulfatase family, member I precursor							124.0	126.0	126.0					5																	149676844		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676844C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1643G>T	5.37:g.149676844C>A	ENSP00000333395:p.Cys548Phe						p.C548F	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2232	-			548					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1643G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	2.808	-0.247682	0.05867	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97016	-4.21;-3.32	4.56	4.56	0.56223	.	0.202980	0.50627	D	0.000115	D	0.91932	0.7445	L	0.43152	1.355	0.48901	D	0.999723	P	0.40476	0.718	B	0.31101	0.124	D	0.91535	0.5245	10	0.08381	T	0.77	.	17.5297	0.87810	0.0:1.0:0.0:0.0	.	548	Q5FYB1	ARSI_HUMAN	F	548;405	ENSP00000333395:C548F;ENSP00000426879:C405F	ENSP00000333395:C548F	C	-	2	0	ARSI	149657037	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.287000	0.51732	2.356000	0.79943	0.643000	0.83706	TGC		0.527	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		48	84	1	0	6.62e-31	2.18e-30	48	84				
SLC30A8	169026	broad.mit.edu	37	8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr8:118170064G>A	ENST00000456015.2	+	4	553	c.553G>A	c.(553-555)Gca>Aca	p.A185T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(553-555)GCA>ACA		solute carrier family 30 member 8							191.0	160.0	171.0					8																	118170064		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170064G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.553G>A	8.37:g.118170064G>A	ENSP00000415011:p.Ala185Thr					SLC30A8_uc010mcz.2_Missense_Mutation_p.A136T|SLC30A8_uc011lia.1_Missense_Mutation_p.A136T|SLC30A8_uc003yog.2_Missense_Mutation_p.A136T	p.A185T	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		4	783	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		185			Helical; (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.553G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235757	0.79800	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.77	5.77	0.91146	.	0.104565	0.64402	D	0.000004	T	0.78065	0.4225	M	0.62154	1.92	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.79009	-0.1978	10	0.87932	D	0	-4.4463	18.9751	0.92733	0.0:0.0:1.0:0.0	.	185	Q8IWU4	ZNT8_HUMAN	T	136;136;136;185	ENSP00000428545:A136T;ENSP00000407505:A136T;ENSP00000431069:A136T;ENSP00000415011:A185T	ENSP00000407505:A136T	A	+	1	0	SLC30A8	118239245	1.000000	0.71417	0.913000	0.36048	0.111000	0.19643	9.869000	0.99810	2.722000	0.93159	0.655000	0.94253	GCA		0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		37	69	0	0	0	0	37	69				
CLCN4	1183	broad.mit.edu	37	X	10201603	10201603	+	Silent	SNP	C	C	T	rs185639914		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chrX:10201603C>T	ENST00000380833.4	+	13	2653	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P	CLCN4_ENST00000380829.1_Silent_p.P723P|CLCN4_ENST00000421085.2_Silent_p.P660P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	754	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCAGGACCCCGAATCCATCA	0.363													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14988	0.0		0.0	False		,,,				2504	0.0				Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2260-2262)CCC>CCT		chloride channel 4							102.0	97.0	99.0					X																	10201603		2203	4300	6503	SO:0001819	synonymous_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10201603C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2262C>T	X.37:g.10201603C>T						CLCN4_uc011mid.1_Silent_p.P660P	p.P754P	NM_001830	NP_001821	P51793	CLCN4_HUMAN			13	2692	+			754			CBS 2.|Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.2262C>T	CCDS14137.1																																																																																				0.363	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			4	40	0	0	0	0	4	40				
GPBP1L1	60313	broad.mit.edu	37	1	46099783	46099784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr1:46099783_46099784insA	ENST00000290795.3	-	8	2090_2091	c.869_870insT	c.(868-870)ctgfs	p.L290fs	GPBP1L1_ENST00000355105.3_Frame_Shift_Ins_p.L290fs|GPBP1L1_ENST00000479235.1_5'UTR			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	290					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGGAGAACTCAGAGCTGCACC	0.465																																						uc001coq.2		NA																	0				ovary(1)	1						c.(868-870)CTGfs		GC-rich promoter binding protein 1-like 1																																				SO:0001589	frameshift_variant	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46099783_46099784insA		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.870dupT	1.37:g.46099784_46099784dupA	ENSP00000290795:p.Leu290fs					GPBP1L1_uc001coo.2_Frame_Shift_Ins_p.L34fs	p.L290fs	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			9	2230_2231	-	Acute lymphoblastic leukemia(166;0.155)		290					D3DQ10|Q9H751	Frame_Shift_Ins	INS	ENST00000290795.3	37	c.869_870insT	CCDS528.1																																																																																				0.465	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		22	56	NA	NA	NA	NA	22	56	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383922	85383922	+	Frame_Shift_Del	DEL	C	C	-	rs143709902		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr15:85383922delC	ENST00000258888.5	+	5	2185	c.2018delC	c.(2017-2019)accfs	p.T673fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	673					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACTCCTTGACCCCCCAGCCG	0.617																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2017-2019)ACCfs		alpha-kinase 3							40.0	39.0	39.0					15																	85383922		2203	4299	6502	SO:0001589	frameshift_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383922delC	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2018delC	15.37:g.85383922delC	ENSP00000258888:p.Thr673fs						p.T673fs	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2185	+			673					Q9P2L6	Frame_Shift_Del	DEL	ENST00000258888.5	37	c.2018delC	CCDS10333.1																																																																																				0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		17	55	NA	NA	NA	NA	17	55	---	---	---	---
IL34	146433	broad.mit.edu	37	16	70693992	70693993	+	Frame_Shift_Ins	INS	-	-	AGCTG			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr16:70693992_70693993insAGCTG	ENST00000288098.2	+	6	1014_1015	c.631_632insAGCTG	c.(631-633)cagfs	p.-212fs	IL34_ENST00000429149.2_Frame_Shift_Ins_p.-212fs|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Frame_Shift_Ins_p.-187fs	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGCGGCCACCCAGCTGTACCCT	0.649																																						uc002ezh.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(631-633)CAGfs		interleukin 34 precursor																																				SO:0001589	frameshift_variant	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693992_70693993insAGCTG	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.632_636dupAGCTG	16.37:g.70693993_70693997dupAGCTG	ENSP00000288098:p.Leu212fs					IL34_uc002ezi.1_Frame_Shift_Ins_p.Q210fs	p.Q211fs	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN			6	1014_1015	+			211					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Frame_Shift_Ins	INS	ENST00000288098.2	37	c.631_632insAGCTG	CCDS10895.1																																																																																				0.649	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		24	120	NA	NA	NA	NA	24	120	---	---	---	---
ALK	238	broad.mit.edu	37	2	29451771	29451772	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr2:29451771_29451772delCA	ENST00000389048.3	-	16	3699_3700	c.2793_2794delTG	c.(2791-2796)ggtggafs	p.GG931fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	931	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCGCCTCCTCCACCTGAGGAGC	0.619			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2791-2796)GGTGGAfs		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29451771_29451772delCA	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2793_2794delTG	2.37:g.29451771_29451772delCA	ENSP00000373700:p.Gly931fs						p.G931fs	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			16	3700_3701	-	Acute lymphoblastic leukemia(172;0.155)		931_932			Gly-rich.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Frame_Shift_Del	DEL	ENST00000389048.3	37	c.2793_2794delTG	CCDS33172.1																																																																																				0.619	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		12	33	NA	NA	NA	NA	12	33	---	---	---	---
TIMMDC1	51300	broad.mit.edu	37	3	119219666	119219667	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr3:119219666_119219667insAG	ENST00000494664.1	+	2	521_522	c.319_320insAG	c.(319-321)cagfs	p.Q107fs	TIMMDC1_ENST00000493694.1_Intron|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	107						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATACATTGAGCAGAGCCAGGCA	0.421																																						uc003ecn.2		NA																	0					0						c.(319-321)CAGfs		hypothetical protein LOC51300																																				SO:0001589	frameshift_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119219666_119219667insAG	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.322_323dupAG	3.37:g.119219669_119219670dupAG	ENSP00000418803:p.Gln107fs					C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.Q107fs	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	2	532_533	+			107					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Frame_Shift_Ins	INS	ENST00000494664.1	37	c.319_320insAG	CCDS33831.1																																																																																				0.421	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		42	66	NA	NA	NA	NA	42	66	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162307557	162307558	+	Frame_Shift_Ins	INS	-	-	T	rs181527249		TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr4:162307557_162307558insT	ENST00000306100.5	-	16	2321_2322	c.1885_1886insA	c.(1885-1887)attfs	p.I629fs	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Frame_Shift_Ins_p.I628fs|FSTL5_ENST00000427802.2_Frame_Shift_Ins_p.I619fs|FSTL5_ENST00000379164.4_Frame_Shift_Ins_p.I628fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	629						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAAGATCAATTTTTTGTAGT	0.361																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1885-1887)ATTfs		follistatin-like 5 isoform a																																				SO:0001589	frameshift_variant	56884					extracellular region	calcium ion binding	g.chr4:162307557_162307558insT	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1886dupA	4.37:g.162307563_162307563dupT	ENSP00000305334:p.Ile629fs					FSTL5_uc003iqi.2_Frame_Shift_Ins_p.I628fs|FSTL5_uc010iqv.2_Frame_Shift_Ins_p.I619fs|uc010iqu.1_RNA	p.I629fs	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2321_2322	-	all_hematologic(180;0.24)		629					E9PCP6|Q9NSW7|Q9ULF7	Frame_Shift_Ins	INS	ENST00000306100.5	37	c.1885_1886insA	CCDS3802.1																																																																																				0.361	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	36	NA	NA	NA	NA	13	36	---	---	---	---
NUGGC	389643	broad.mit.edu	37	8	27925899	27925899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7100-01A-11D-2012-08	TCGA-CV-7100-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f21a5e1f-84b8-4e6f-8230-03d31cc7c431	3951a376-81b0-4843-b3c0-ca1b0f6efffb	g.chr8:27925899delA	ENST00000413272.2	-	5	456	c.314delT	c.(313-315)ttafs	p.L105fs	NUGGC_ENST00000341513.6_Frame_Shift_Del_p.L105fs	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	105					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GCTTCCAAATAATGCAATGTA	0.433																																						uc003xgm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(313-315)TTAfs		speckled-like pattern in the germinal center							65.0	62.0	63.0					8																	27925899		1894	4116	6010	SO:0001589	frameshift_variant	389643					nucleus	GTP binding|GTPase activity	g.chr8:27925899delA	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.314delT	8.37:g.27925899delA	ENSP00000408697:p.Leu105fs						p.L105fs	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	5	457	-		Ovarian(32;0.0218)	105					Q6ZP73	Frame_Shift_Del	DEL	ENST00000413272.2	37	c.314delT	CCDS47833.1																																																																																				0.433	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		2	4	NA	NA	NA	NA	2	4	---	---	---	---
