#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
NEXN	91624	broad.mit.edu	37	1	78383724	78383724	+	Splice_Site	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:78383724G>A	ENST00000334785.7	+	4	482		c.e4+1		NEXN_ENST00000457030.1_Splice_Site|NEXN_ENST00000330010.8_Splice_Site|NEXN_ENST00000294624.8_Splice_Site	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAACAGGTAAGAAGCTT	0.284																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.e3+1		nexilin (F actin binding protein)							102.0	103.0	103.0					1																	78383724		1803	4066	5869	SO:0001630	splice_region_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383724G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.298+1G>A	1.37:g.78383724G>A						NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000294624.8_Splice_Site|NEXN_ENST00000457030.1_Splice_Site		NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	403	+									Splice_Site	SNP	ENST00000334785.7	37		CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709712	0.68730	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEXN	78156312	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.006000	0.93592	2.878000	0.98634	0.650000	0.86243	.		0.284	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	Intron	3	64	0	0	0	1	0	3	64				
IGDCC4	57722	broad.mit.edu	37	15	65676658	65676658	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr15:65676658G>A	ENST00000352385.2	-	20	3651	c.3442C>T	c.(3442-3444)Ctc>Ttc	p.L1148F	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGATGGAGGTCAGGGTTC	0.607																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3442-3444)Ctc>Ttc		immunoglobulin superfamily, DCC subclass, member 4							64.0	64.0	64.0					15																	65676658		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65676658G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3442C>T	15.37:g.65676658G>A	ENSP00000319623:p.Leu1148Phe					IGDCC4_ENST00000558048.1_5'UTR	p.L1148F	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			20	3651	-			1148					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3442C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274414	0.40194	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.60040	0.22	5.19	4.27	0.50696	.	0.168166	0.28600	N	0.014779	T	0.42404	0.1201	L	0.32530	0.975	0.32629	N	0.522247	B	0.06786	0.001	B	0.04013	0.001	T	0.47156	-0.9139	10	0.30854	T	0.27	-24.5342	7.7318	0.28791	0.1897:0.0:0.8103:0.0	.	1148	Q8TDY8	IGDC4_HUMAN	F	1148;877	ENSP00000319623:L1148F	ENSP00000319623:L1148F	L	-	1	0	IGDCC4	63463711	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	1.560000	0.36331	1.187000	0.43000	0.561000	0.74099	CTC		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	69	0	0	0	1	0	3	69				
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:10390524C>T	ENST00000328655.3	+	4	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(706-708)gCc>gTc		protease, serine, 55							121.0	104.0	110.0					8																	10390524		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390524C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.707C>T	8.37:g.10390524C>T	ENSP00000333003:p.Ala236Val					PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V|PRSS51_ENST00000523024.1_RNA	p.A236V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			4	747	+			236			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.707C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733040	0.48939	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94966	-3.57;-3.57	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34725	N	0.003736	D	0.95007	0.8384	L	0.53617	1.68	0.43863	D	0.996461	D	0.52996	0.957	P	0.54431	0.752	D	0.94760	0.7935	10	0.54805	T	0.06	.	15.0703	0.72030	0.0:1.0:0.0:0.0	.	236	Q6UWB4	PRS55_HUMAN	V	236	ENSP00000333003:A236V;ENSP00000430459:A236V	ENSP00000333003:A236V	A	+	2	0	PRSS55	10427934	0.973000	0.33851	0.966000	0.40874	0.052000	0.14988	2.472000	0.45136	2.694000	0.91930	0.591000	0.81541	GCC		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		3	76	0	0	0	1	0	3	76				
DSG3	1830	broad.mit.edu	37	18	29054111	29054111	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr18:29054111G>A	ENST00000257189.4	+	15	2212	c.2129G>A	c.(2128-2130)gGc>gAc	p.G710D		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	710					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGCCAGAGGCACAGCGGTG	0.443																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2128-2130)gGc>gAc		desmoglein 3							97.0	87.0	90.0					18																	29054111		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054111G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2129G>A	18.37:g.29054111G>A	ENSP00000257189:p.Gly710Asp						p.G710D	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2212	+			710					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2129G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724732	0.48833	.	.	ENSG00000134757	ENST00000257189	T	0.58210	0.35	5.68	4.8	0.61643	.	0.000000	0.48286	D	0.000194	T	0.68622	0.3021	M	0.79123	2.44	0.45452	D	0.998422	D	0.60575	0.988	P	0.60173	0.87	T	0.72551	-0.4259	10	0.72032	D	0.01	.	13.3576	0.60638	0.0742:0.0:0.9258:0.0	.	710	P32926	DSG3_HUMAN	D	710	ENSP00000257189:G710D	ENSP00000257189:G710D	G	+	2	0	DSG3	27308109	1.000000	0.71417	0.865000	0.33974	0.057000	0.15508	2.319000	0.43788	2.677000	0.91161	0.650000	0.86243	GGC		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		3	113	0	0	0	1	0	3	113				
SRP72	6731	broad.mit.edu	37	4	57340448	57340448	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr4:57340448G>C	ENST00000342756.5	+	5	1222	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SRP72_ENST00000510663.1_Missense_Mutation_p.E167D|SRP72_ENST00000504757.1_Missense_Mutation_p.E167D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	167					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACAGGAGAACCTGGGCC	0.448																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(499-501)gaG>gaC		signal recognition particle 72kDa							105.0	108.0	107.0					4																	57340448		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340448G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.501G>C	4.37:g.57340448G>C	ENSP00000342181:p.Glu167Asp					SRP72_ENST00000504757.1_Missense_Mutation_p.E167D|SRP72_ENST00000510663.1_Missense_Mutation_p.E167D	p.E167D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			5	1222	+	Glioma(25;0.08)|all_neural(26;0.101)		167					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.501G>C	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168690	0.57584	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.39592	1.07;1.07	5.52	2.35	0.29111	Tetratricopeptide-like helical (1);	0.091290	0.64402	N	0.000001	T	0.30293	0.0760	L	0.54863	1.705	0.47009	D	0.999289	B;B	0.32693	0.164;0.38	B;B	0.29176	0.099;0.091	T	0.04752	-1.0929	10	0.25751	T	0.34	.	5.2527	0.15531	0.2278:0.1751:0.5971:0.0	.	167;167	G5E9Z8;O76094	.;SRP72_HUMAN	D	167;173;167	ENSP00000342181:E167D;ENSP00000424576:E167D	ENSP00000342181:E167D	E	+	3	2	SRP72	57035205	0.996000	0.38824	1.000000	0.80357	0.749000	0.42624	0.417000	0.21214	0.666000	0.31087	0.650000	0.86243	GAG		0.448	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			6	187	0	0	0	1	0	6	187				
MARK2	2011	broad.mit.edu	37	11	63668346	63668346	+	Missense_Mutation	SNP	G	G	A	rs146234903		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:63668346G>A	ENST00000509502.2	+	10	1347	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R328Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCCCCGGCGGACAGGTGAG	0.547																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(982-984)cGg>cAg		MAP/microtubule affinity-regulating kinase 2		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	96.0	98.0	97.0		983,983,983,983,884	5.0	1.0	11	dbSNP_134	97	1,8593		0,1,4296	no	missense,missense,missense,missense,missense	MARK2	NM_001039469.2,NM_001163296.1,NM_001163297.1,NM_004954.4,NM_017490.3	43,43,43,43,43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/789,328/720,328/710,328/725,295/746	63668346	1,12995	2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668346G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.884G>A	11.37:g.63668346G>A	ENSP00000423974:p.Arg295Gln					MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R295Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q	p.R328Q	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			10	1562	+			328			UBA.			Missense_Mutation	SNP	ENST00000509502.2	37	c.983G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909184	0.92107	0.0	1.16E-4	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.0	5.0	0.66597	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);	0.114968	0.56097	N	0.000034	T	0.61286	0.2335	M	0.87900	2.915	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;P;D;D	0.72982	0.921;0.979;0.947;0.668;0.916;0.979	T	0.66956	-0.5792	10	0.54805	T	0.06	.	17.2269	0.86973	0.0:0.0:1.0:0.0	.	295;295;328;328;328;328	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	328;328;328;328;295;328;328;328;328;295;295;295;295	ENSP00000385751:R328Q;ENSP00000326632:R328Q;ENSP00000367040:R328Q;ENSP00000389184:R328Q;ENSP00000367041:R295Q;ENSP00000425765:R328Q;ENSP00000355091:R328Q;ENSP00000294247:R328Q;ENSP00000423974:R295Q;ENSP00000421075:R295Q;ENSP00000386128:R295Q;ENSP00000415494:R295Q	ENSP00000326632:R328Q	R	+	2	0	MARK2	63424922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.561000	0.73955	2.583000	0.87209	0.557000	0.71058	CGG		0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	188	0	0	0	1	0	4	188				
WDR11	55717	broad.mit.edu	37	10	122619684	122619684	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:122619684A>G	ENST00000263461.6	+	4	662	c.416A>G	c.(415-417)aAt>aGt	p.N139S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	293					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CACCCGCCAAATTACATTGTG	0.428																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(415-417)aAt>aGt		WD repeat domain 11							139.0	120.0	126.0					10																	122619684		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619684A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.416A>G	10.37:g.122619684A>G	ENSP00000263461:p.Asn139Ser						p.N139S	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	662	+			139					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.416A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703712	0.30232	.	.	ENSG00000120008	ENST00000263461	T	0.28454	1.61	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.140827	0.64402	D	0.000007	T	0.15869	0.0382	N	0.15975	0.35	0.53005	D	0.999962	B	0.29766	0.256	B	0.25614	0.062	T	0.06826	-1.0805	10	0.13470	T	0.59	-15.7456	10.9634	0.47397	0.9272:0.0:0.0728:0.0	.	139	Q9BZH6	WDR11_HUMAN	S	139	ENSP00000263461:N139S	ENSP00000263461:N139S	N	+	2	0	WDR11	122609674	1.000000	0.71417	0.952000	0.39060	0.721000	0.41392	6.171000	0.71926	0.939000	0.37446	0.482000	0.46254	AAT		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			4	85	0	0	0	1	0	4	85				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	56	0	0	0	1	0	4	56				
ZNF324B	388569	broad.mit.edu	37	19	58966764	58966764	+	Silent	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr19:58966764G>C	ENST00000336614.4	+	4	560	c.453G>C	c.(451-453)tcG>tcC	p.S151S	ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000391696.1_Silent_p.S141S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGCTAGGCTCGCGCAGTGACC	0.632																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(421-423)tcG>tcC		zinc finger protein 324B							63.0	68.0	66.0					19																	58966764		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966764G>C	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.453G>C	19.37:g.58966764G>C						ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000336614.4_Silent_p.S151S	p.S141S			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	1355	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	151					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.423G>C	CCDS33138.1																																																																																				0.632	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		40	65	0	0	0	1	0	40	65				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	102	0	0	0	1	0	3	102				
BDP1	55814	broad.mit.edu	37	5	70858315	70858315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr5:70858315C>T	ENST00000358731.4	+	38	7974	c.7711C>T	c.(7711-7713)Caa>Taa	p.Q2571*	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2571					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATTACTACTCAATCTGAGAA	0.348																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7711-7713)Caa>Taa		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							94.0	86.0	89.0					5																	70858315		1840	4095	5935	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70858315C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7711C>T	5.37:g.70858315C>T	ENSP00000351575:p.Gln2571*					BDP1_ENST00000380675.2_3'UTR	p.Q2571*	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	38	7974	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2571					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.7711C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535433	0.64972	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	.	.	.	5.87	2.95	0.34219	.	0.842486	0.10330	N	0.687725	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.7035	0.62624	0.0:0.448:0.552:0.0	.	.	.	.	X	2571;2119	.	ENSP00000351575:Q2571X	Q	+	1	0	BDP1	70894071	0.000000	0.05858	0.007000	0.13788	0.122000	0.20287	0.324000	0.19610	0.753000	0.32945	0.650000	0.86243	CAA		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	82	0	0	0	1	0	17	82				
CD6	923	broad.mit.edu	37	11	60777117	60777117	+	Silent	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:60777117C>T	ENST00000313421.7	+	5	1041	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000346437.4_Silent_p.V285V|CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	285	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCGAGGGGTCTGGAACACAG	0.652																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(853-855)gtC>gtT		CD6 molecule							80.0	66.0	70.0					11																	60777117		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777117C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.855C>T	11.37:g.60777117C>T						CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000346437.4_Silent_p.V285V|CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000545105.1_Intron	p.V285V	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			5	1041	+			285			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.855C>T	CCDS7999.1																																																																																				0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		8	71	0	0	0	1	0	8	71				
HPCAL1	3241	broad.mit.edu	37	2	10560174	10560174	+	Silent	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr2:10560174G>A	ENST00000381765.3	+	4	817	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HPCAL1_ENST00000307845.3_Silent_p.L97L	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	97	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGGGCAAGCTGGAGCAGAAGC	0.637																																					Pancreas(70;1384 1800 31595 46836)	ENST00000381765.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(289-291)ctG>ctA		hippocalcin-like 1							83.0	73.0	77.0					2																	10560174		2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560174G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.291G>A	2.37:g.10560174G>A						HPCAL1_ENST00000307845.3_Silent_p.L97L	p.L97L	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	4	817	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		97			EF-hand 3.		Q969S5	Silent	SNP	ENST00000381765.3	37	c.291G>A	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402629	0.25291	.	.	ENSG00000115756	ENST00000422133	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	T	0.71247	0.3317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70605	-0.4826	4	.	.	.	.	15.352	0.74396	0.0:0.1396:0.8604:0.0	.	.	.	.	R	10	.	.	G	+	1	0	HPCAL1	10477625	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.153000	0.42282	2.282000	0.76494	0.561000	0.74099	GGA		0.637	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		3	78	0	0	0	1	0	3	78				
MARCH8	220972	broad.mit.edu	37	10	45954618	45954618	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:45954618T>C	ENST00000319836.3	-	6	1270	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C|MARCH8_ENST00000453424.2_Missense_Mutation_p.Y456C	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	174					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AATGAGCACATACAAGGACCA	0.552																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1366-1368)tAt>tGt		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							192.0	147.0	162.0					10																	45954618		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954618T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.521A>G	10.37:g.45954618T>C	ENSP00000317087:p.Tyr174Cys					MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000319836.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C	p.Y456C			Q5T0T0	MARH8_HUMAN			7	1628	-			174					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1367A>G	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281325	0.80692	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.14144	2.53;2.53;2.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	P;B	0.39391	0.671;0.249	B;B	0.39531	0.302;0.23	T	0.01748	-1.1282	10	0.45353	T	0.12	-13.8863	13.9558	0.64147	0.0:0.0:0.0:1.0	.	174;338	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	C	174	ENSP00000379118:Y174C;ENSP00000317087:Y174C;ENSP00000379116:Y174C	ENSP00000317087:Y174C	Y	-	2	0	MARCH8	45274624	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	8.040000	0.89188	2.184000	0.69523	0.533000	0.62120	TAT		0.552	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		11	172	0	0	0	1	0	11	172				
DECR2	26063	broad.mit.edu	37	16	461481	461481	+	Missense_Mutation	SNP	C	C	T	rs367552533		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:461481C>T	ENST00000219481.5	+	8	920	c.782C>T	c.(781-783)aCg>aTg	p.T261M	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.T249M	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	261					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(781-783)aCg>aTg		2,4-dienoyl CoA reductase 2, peroxisomal		C	MET/THR	0,4404		0,0,2202	90.0	83.0	86.0		782	4.4	0.4	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DECR2	NM_020664.3	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	261/293	461481	1,13003	2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461481C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.782C>T	16.37:g.461481C>T	ENSP00000219481:p.Thr261Met					DECR2_ENST00000424398.2_Missense_Mutation_p.T249M|DECR2_ENST00000461947.1_Intron	p.T261M	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			8	920	+		Hepatocellular(16;0.00015)	261					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.782C>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012354	0.54468	0.0	1.16E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.45668	0.89;0.89	5.33	4.38	0.52667	NAD(P)-binding domain (1);	0.091610	0.85682	D	0.000000	T	0.76133	0.3945	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84595	0.0669	10	0.87932	D	0	.	13.0638	0.59022	0.0:0.9221:0.0:0.0779	.	261	Q9NUI1	DECR2_HUMAN	M	261;249	ENSP00000219481:T261M;ENSP00000400374:T249M	ENSP00000219481:T261M	T	+	2	0	DECR2	401482	1.000000	0.71417	0.377000	0.26055	0.097000	0.18754	7.650000	0.83521	1.262000	0.44165	0.555000	0.69702	ACG		0.632	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		24	62	0	0	0	1	0	24	62				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	52	0	0	0	1	0	3	52				
KIF1B	23095	broad.mit.edu	37	1	10394681	10394681	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:10394681G>A	ENST00000377086.1	+	28	3230	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I			O60333	KIF1B_HUMAN	kinesin family member 1B	1010					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTGTGGCTGTACAGGCCAT	0.517																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3028-3030)Gta>Ata		kinesin family member 1B							158.0	141.0	147.0					1																	10394681		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10394681G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3028G>A	1.37:g.10394681G>A	ENSP00000366290:p.Val1010Ile					KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I	p.V1010I			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	28	3230	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1010					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3028G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.390282	0.82902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77877	-1.13;-1.13;-1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	N	0.24115	0.695	0.80722	D	1	P;P;D;D;P;P	0.67145	0.897;0.849;0.996;0.992;0.56;0.902	P;B;D;D;B;D	0.77557	0.471;0.215;0.99;0.989;0.158;0.927	T	0.77107	-0.2710	10	0.23302	T	0.38	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	996;970;1010;984;1010;964	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1010;964;1010;1010	ENSP00000263934:V964I;ENSP00000366290:V1010I;ENSP00000366284:V1010I	ENSP00000263934:V964I	V	+	1	0	KIF1B	10317268	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.923000	0.87546	2.854000	0.98071	0.655000	0.94253	GTA		0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			4	91	0	0	0	1	0	4	91				
RNF128	79589	broad.mit.edu	37	X	105970419	105970419	+	Silent	SNP	G	G	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chrX:105970419G>T	ENST00000255499.2	+	1	526	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	92	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGCCCGGGGCGCTTAACGCCT	0.677																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(274-276)gcG>gcT		ring finger protein 128, E3 ubiquitin protein ligase							20.0	20.0	20.0					X																	105970419		2202	4297	6499	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970419G>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.276G>T	X.37:g.105970419G>T						RNF128_ENST00000324342.3_Intron	p.A92A	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			1	526	+			92			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.276G>T	CCDS14521.1																																																																																				0.677	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		6	27	1	0	0.000157383	1	0.000157383	6	27				
SMPD2	6610	broad.mit.edu	37	6	109763769	109763769	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr6:109763769G>C	ENST00000258052.3	+	6	791	c.432G>C	c.(430-432)caG>caC	p.Q144H	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	144					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(430-432)caG>caC		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							169.0	146.0	154.0					6																	109763769		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763769G>C	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.432G>C	6.37:g.109763769G>C	ENSP00000258052:p.Gln144His						p.Q144H	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	6	791	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	144					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.432G>C	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288948	0.23478	.	.	ENSG00000135587	ENST00000258052	T	0.80480	-1.38	5.43	0.924	0.19418	Endonuclease/exonuclease/phosphatase (2);	0.326365	0.35739	N	0.003012	T	0.41743	0.1172	N	0.20986	0.625	0.19575	N	0.999966	B	0.02656	0.0	B	0.06405	0.002	T	0.33929	-0.9849	10	0.44086	T	0.13	-4.2124	2.8213	0.05472	0.3595:0.0:0.4413:0.1992	.	144	O60906	NSMA_HUMAN	H	144	ENSP00000258052:Q144H	ENSP00000258052:Q144H	Q	+	3	2	SMPD2	109870462	0.998000	0.40836	0.991000	0.47740	0.211000	0.24417	0.264000	0.18497	0.243000	0.21327	-1.069000	0.02264	CAG		0.522	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			4	176	0	0	0	1	0	4	176				
FAM43B	163933	broad.mit.edu	37	1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1.0			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	6						3	6	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			3	6						3	6	---	---	---	---
LOC102724612	102724612	broad.mit.edu	37	8	64382847	64382849	+	lincRNA	DEL	AGC	AGC	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:64382847_64382849delAGC	ENST00000518739.1	+	0	2954																											GAGCACCTGAagcagcagcagca	0.517																																						ENST00000518739.1																			0																																																			0							g.chr8:64382847_64382849delAGC																													8.37:g.64382856_64382858delAGC														0	2954	+									RNA	DEL	ENST00000518739.1	37																																																																																						0.517	RP11-45K10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378596.1			2	4						2	4	---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113345000	113345001	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr12:113345000_113345001delTG	ENST00000202917.5	+	1	419_420	c.156_157delTG	c.(154-159)cctgtgfs	p.V53fs	OAS1_ENST00000452357.2_Frame_Shift_Del_p.V53fs|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Frame_Shift_Del_p.V53fs|OAS1_ENST00000551241.1_Frame_Shift_Del_p.V53fs|OAS1_ENST00000445409.2_Frame_Shift_Del_p.V53fs	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	53	Interaction with dsRNA.				cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCTACCCTGTGTGTGTGTC	0.53																																						ENST00000452357.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(154-159)cctgfs		2'-5'-oligoadenylate synthetase 1, 40/46kDa																																				SO:0001589	frameshift_variant	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113345000_113345001delTG	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.156_157delTG	12.37:g.113345008_113345009delTG	ENSP00000202917:p.Val53fs					OAS1_ENST00000202917.5_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000553185.1_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000445409.2_Frame_Shift_Del_p.PV52fs|OAS1_ENST00000551241.1_Frame_Shift_Del_p.PV52fs	p.PV52fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN			1	346_347	+			52					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Del	DEL	ENST00000202917.5	37	c.156_157delTG	CCDS41838.1																																																																																				0.530	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			7	113						7	113	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		4	2						4	2	---	---	---	---
RP11-640N20.6	0	broad.mit.edu	37	17	30419054	30419054	+	RNA	DEL	C	C	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:30419054delC	ENST00000358484.4	+	0	144				RP11-640N20.8_ENST00000581225.1_RNA																							ACCACCACCACcacacacaca	0.488																																						ENST00000581225.1																			0																																																			0							g.chr17:30419054delC																													17.37:g.30419054delC						RP11-640N20.6_ENST00000358484.4_RNA								0	72	-									RNA	DEL	ENST00000358484.4	37																																																																																						0.488	RP11-640N20.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000447090.1			2	4						2	4	---	---	---	---
LINC00854	100874261	broad.mit.edu	37	17	41381913	41381914	+	RNA	INS	-	-	T	rs386797200|rs11403368|rs71220402	byFrequency	TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:41381913_41381914insT	ENST00000433702.2	-	0	14				LINC00854_ENST00000600764.1_RNA|LINC00854_ENST00000608223.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		accctgatctatcatcgggagg	0.55																																						ENST00000433702.2																			0																																																			0							g.chr17:41381913_41381914insT			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41381914_41381914dupT								NR_047479.1						0	14	-									RNA	INS	ENST00000433702.2	37																																																																																						0.550	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			4	7						4	7	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:48276617delG	ENST00000225964.5	-	5	559	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	147					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	cgggaggtccggggggtccgg	0.652			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(439-441)ccfs		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						1.0	1.0	1.0					17																	48276617		1234	2663	3897	SO:0001589	frameshift_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48276617delG	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.441delC	17.37:g.48276617delG	ENSP00000225964:p.Pro147fs						p.P147fs	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			5	559	-			147					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Frame_Shift_Del	DEL	ENST00000225964.5	37	c.441delC	CCDS11561.1																																																																																				0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			2	4						2	4	---	---	---	---
