#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
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.C1021C(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		fer-1-like 6 (C. elegans)							144.0	126.0	132.0					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T						FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		26	56	0	0	0	1	0	26	56				
EIF2B4	8890	broad.mit.edu	37	2	27590021	27590021	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27590021C>G	ENST00000347454.4	-	10	1104	c.933G>C	c.(931-933)aaG>aaC	p.K311N	EIF2B4_ENST00000445933.2_Missense_Mutation_p.K310N|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K331N|EIF2B4_ENST00000493344.2_Missense_Mutation_p.K332N	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	311					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGCACAATCTTCTCTTGCA	0.438																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(994-996)aaG>aaC		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							215.0	182.0	193.0					2																	27590021		2203	4300	6503	SO:0001583	missense	0				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27590021C>G	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.933G>C	2.37:g.27590021C>G	ENSP00000233552:p.Lys311Asn					EIF2B4_ENST00000347454.4_Missense_Mutation_p.K311N|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K331N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K310N	p.K332N			Q9UI10	EI2BD_HUMAN			9	1308	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		311					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.996G>C	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393369	0.83011	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.85629	-2.0;-1.99;-1.99;-2.01	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	L	0.52905	1.665	0.80722	D	1	P;P;B;B	0.36222	0.544;0.544;0.417;0.198	B;B;B;B	0.40009	0.316;0.17;0.261;0.108	T	0.82880	-0.0238	10	0.36615	T	0.2	-22.8401	18.9918	0.92796	0.0:1.0:0.0:0.0	.	308;310;311;331	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	N	311;308;310;331;332	ENSP00000233552:K311N;ENSP00000394397:K310N;ENSP00000394869:K331N;ENSP00000429323:K332N	ENSP00000233552:K311N	K	-	3	2	EIF2B4	27443525	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.596000	0.61055	2.837000	0.97791	0.655000	0.94253	AAG		0.438	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			5	107	0	0	0	1	0	5	107				
TRIT1	54802	broad.mit.edu	37	1	40318540	40318540	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:40318540C>A	ENST00000316891.5	-	4	437	c.423G>T	c.(421-423)gaG>gaT	p.E141D	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E141D|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E61D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	141					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGTGCCCATCTCCTGGGGCT	0.443																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(421-423)gaG>gaT		tRNA isopentenyltransferase 1							178.0	169.0	172.0					1																	40318540		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318540C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.423G>T	1.37:g.40318540C>A	ENSP00000321810:p.Glu141Asp					TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E61D|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E141D|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron	p.E141D	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	437	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	141					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.423G>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	7.495	0.651395	0.14516	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.38887	1.11;1.11	3.99	1.06	0.20224	.	1.316600	0.04531	N	0.386296	T	0.16896	0.0406	N	0.01824	-0.7	0.44162	D	0.996969	B;B	0.32467	0.002;0.372	B;B	0.26864	0.011;0.074	T	0.12268	-1.0554	10	0.15952	T	0.53	-0.9852	8.0389	0.30511	0.0:0.7273:0.0:0.2727	.	141;61	Q9H3H1;Q9H3H1-5	MOD5_HUMAN;.	D	141;61;55;141;141	ENSP00000321810:E141D;ENSP00000361905:E141D	ENSP00000046894:E141D	E	-	3	2	TRIT1	40091127	0.468000	0.25839	0.124000	0.21820	0.529000	0.34654	0.673000	0.25203	0.244000	0.21351	0.467000	0.42956	GAG		0.443	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		7	153	1	0	0.0293803	1	0.0296524	7	153				
DDX58	23586	broad.mit.edu	37	9	32457322	32457322	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:32457322C>T	ENST00000379883.2	-	18	2733	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	DDX58_ENST00000379882.1_Missense_Mutation_p.R814K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	859	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCTTTGCTCTTTTTTCAAA	0.398																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2440-2442)aGa>aAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							107.0	100.0	103.0					9																	32457322		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457322C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2576G>A	9.37:g.32457322C>T	ENSP00000369213:p.Arg859Lys					DDX58_ENST00000379883.2_Missense_Mutation_p.R859K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	p.R814K			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2598	-			859			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2441G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	1.598	-0.527269	0.04141	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.83	-9.58	0.00559	C-terminal domain of RIG-I (1);	0.768164	0.12221	N	0.488323	T	0.09158	0.0226	N	0.02315	-0.6	0.53005	D	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	10	0.02654	T	1	-3.0156	4.2485	0.10682	0.2809:0.4701:0.0905:0.1585	.	788;859	B3KWW1;O95786	.;DDX58_HUMAN	K	814;859;656;788	ENSP00000369212:R814K;ENSP00000369213:R859K;ENSP00000369197:R656K;ENSP00000442160:R788K	ENSP00000369197:R656K	R	-	2	0	DDX58	32447322	0.000000	0.05858	0.945000	0.38365	0.247000	0.25773	-2.632000	0.00870	-0.797000	0.04450	0.650000	0.86243	AGA		0.398	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		10	54	0	0	0	1	0	10	54				
ZFC3H1	196441	broad.mit.edu	37	12	72057031	72057031	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:72057031A>C	ENST00000378743.3	-	1	718	c.360T>G	c.(358-360)ccT>ccG	p.P120P	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P120P|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P120P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	120	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGAGCTCGAAGGCATCCGTA	0.657																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(358-360)ccT>ccG		zinc finger, C3H1-type containing							66.0	73.0	71.0					12																	72057031		1965	4141	6106	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057031A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.360T>G	12.37:g.72057031A>C						ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P120P|ZFC3H1_ENST00000548100.1_Silent_p.P120P	p.P120P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	718	-			120			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.360T>G	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		57	95	0	0	0	1	0	57	95				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	36	1	0	1	1	1	3	36				
COL4A5	1287	broad.mit.edu	37	X	107834385	107834385	+	Silent	SNP	T	T	G	rs104886109		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:107834385T>G	ENST00000361603.2	+	20	1507	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	COL4A5_ENST00000328300.6_Silent_p.P421P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	421	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACCTCCTGGACTTG	0.557									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1261-1263)ccT>ccG		collagen, type IV, alpha 5							75.0	78.0	77.0					X																	107834385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834385T>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1263T>G	X.37:g.107834385T>G						COL4A5_ENST00000361603.2_Silent_p.P421P	p.P421P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			20	1507	+			421			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1263T>G	CCDS14543.1																																																																																				0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			26	65	0	0	0	1	0	26	65				
BEND7	222389	broad.mit.edu	37	10	13541899	13541899	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13541899G>C	ENST00000396900.2	-	3	326	c.327C>G	c.(325-327)ctC>ctG	p.L109L	BEND7_ENST00000396898.2_Silent_p.L109L|BEND7_ENST00000378605.3_Silent_p.L57L|BEND7_ENST00000341083.3_Silent_p.L57L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	109						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGACGGGTGGAGGCTTTGCG	0.562																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(169-171)ctC>ctG		BEN domain containing 7							78.0	80.0	79.0					10																	13541899		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13541899G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.327C>G	10.37:g.13541899G>C						BEND7_ENST00000396898.2_Silent_p.L109L|BEND7_ENST00000396900.2_Silent_p.L109L|BEND7_ENST00000378605.3_Silent_p.L57L	p.L57L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			3	467	-			109					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.171C>G																																																																																					0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		8	115	0	0	0	1	0	8	115				
CLEC3A	10143	broad.mit.edu	37	16	78064504	78064504	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:78064504G>C	ENST00000575655.1	+	3	441	c.360G>C	c.(358-360)agG>agC	p.R120S	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R129S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATGGTAAAAGGAGCCTGCCAG	0.488																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(385-387)agG>agC		C-type lectin domain family 3, member A							88.0	76.0	80.0					16																	78064504		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064504G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.360G>C	16.37:g.78064504G>C	ENSP00000460682:p.Arg120Ser					CLEC3A_ENST00000575655.1_Missense_Mutation_p.R120S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	p.R129S	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	472	+			120			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.387G>C		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716292	0.48622	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	-1.09	0.09904	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.339762	0.36482	N	0.002561	T	0.28101	0.0693	N	0.17278	0.47	0.35676	D	0.813703	B	0.06786	0.001	B	0.06405	0.002	T	0.03095	-1.1073	9	0.72032	D	0.01	-5.4882	3.1475	0.06477	0.1839:0.3039:0.398:0.1142	.	120	O75596	CLC3A_HUMAN	S	120	.	ENSP00000299642:R120S	R	+	3	2	CLEC3A	76622005	1.000000	0.71417	0.714000	0.30535	0.959000	0.62525	1.339000	0.33885	-0.305000	0.08831	-0.284000	0.09977	AGG		0.488	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		36	167	0	0	0	1	0	36	167				
NUDT10	170685	broad.mit.edu	37	X	51076162	51076162	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:51076162G>A	ENST00000376006.3	+	2	565	c.345G>A	c.(343-345)agG>agA	p.R115R	NUDT10_ENST00000356450.2_Silent_p.R115R	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	227					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCATTGGGAGGAAGCGAGAGT	0.532																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(343-345)agG>agA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							63.0	57.0	59.0					X																	51076162		2202	4279	6481	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076162G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.345G>A	X.37:g.51076162G>A						NUDT10_ENST00000356450.2_Silent_p.R115R	p.R115R	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	565	+	Ovarian(276;0.236)		115			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.345G>A	CCDS35278.1																																																																																				0.532	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		12	107	0	0	0	1	0	12	107				
SERTAD3	29946	broad.mit.edu	37	19	40947970	40947970	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:40947970C>T	ENST00000322354.3	-	2	514	c.18G>A	c.(16-18)aaG>aaA	p.K6K	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank|SERTAD3_ENST00000392028.4_Silent_p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	6					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGTTTCCTCTTCAAGCCTC	0.562																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(16-18)aaG>aaA		SERTA domain containing 3							22.0	20.0	20.0					19																	40947970		2203	4300	6503	SO:0001819	synonymous_variant	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947970C>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.18G>A	19.37:g.40947970C>T						SERTAD3_ENST00000392028.4_Silent_p.K6K	p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	514	-			6					B3KQB3|Q96CQ2	Silent	SNP	ENST00000322354.3	37	c.18G>A	CCDS12558.1																																																																																				0.562	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		15	19	0	0	0	1	0	15	19				
MTERF2	80298	broad.mit.edu	37	12	107372093	107372093	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:107372093C>T	ENST00000552029.1	-	2	2468	c.400G>A	c.(400-402)Gag>Aag	p.E134K	MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K			Q49AM1	MTEF2_HUMAN		134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAACTGCTCTATTAACTTG	0.403																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(400-402)Gag>Aag		MTERF domain containing 3							88.0	94.0	92.0					12																	107372093		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372093C>T																												ENST00000552029.1:c.400G>A	12.37:g.107372093C>T	ENSP00000447651:p.Glu134Lys					MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K	p.E134K			Q49AM1	MTER3_HUMAN			2	2468	-			134					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.400G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860384	0.51482	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.95	4.12	0.48240	.	0.047014	0.85682	D	0.000000	T	0.09730	0.0239	M	0.71581	2.175	0.58432	D	0.999997	B	0.23442	0.085	B	0.23275	0.045	T	0.08086	-1.0739	10	0.09590	T	0.72	-0.9639	9.1621	0.37030	0.0:0.7465:0.122:0.1315	.	134	Q49AM1	MTER3_HUMAN	K	134	ENSP00000376575:E134K;ENSP00000240050:E134K;ENSP00000447651:E134K;ENSP00000448343:E134K	ENSP00000240050:E134K	E	-	1	0	MTERFD3	105896223	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.829000	0.55760	0.844000	0.35094	0.563000	0.77884	GAG		0.403	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			45	85	0	0	0	1	0	45	85				
CARD6	84674	broad.mit.edu	37	5	40854171	40854171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854171C>T	ENST00000254691.5	+	3	2936	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	913					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACCTGCTTCTCAGCAAGGAGT	0.478																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2737-2739)Cag>Tag		caspase recruitment domain family, member 6							97.0	104.0	102.0					5																	40854171		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854171C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2737C>T	5.37:g.40854171C>T	ENSP00000254691:p.Gln913*					CARD6_ENST00000381677.3_Intron	p.Q913*	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2936	+			913					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.2737C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.311953	0.98754	.	.	ENSG00000132357	ENST00000254691	.	.	.	4.38	2.25	0.28309	.	1.143330	0.06705	N	0.772027	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	1.1857	4.5723	0.12216	0.0:0.6335:0.2097:0.1568	.	.	.	.	X	913	.	ENSP00000254691:Q913X	Q	+	1	0	CARD6	40889928	0.006000	0.16342	0.001000	0.08648	0.864000	0.49448	0.849000	0.27723	0.405000	0.25532	0.313000	0.20887	CAG		0.478	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	190	0	0	0	1	0	11	190				
DSG4	147409	broad.mit.edu	37	18	28972184	28972184	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr18:28972184G>C	ENST00000308128.4	+	8	1021	c.886G>C	c.(886-888)Gat>Cat	p.D296H	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D296H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATTGATCTTGATGAAGAAGG	0.358																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(886-888)Gat>Cat		desmoglein 4							129.0	127.0	128.0					18																	28972184		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28972184G>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.886G>C	18.37:g.28972184G>C	ENSP00000311859:p.Asp296His					DSG4_ENST00000308128.4_Missense_Mutation_p.D296H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.D296H	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		8	915	+			296		Missing (in LAH1).	Cadherin 3.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.886G>C	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623816	0.87460	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.74632	-0.86;-0.86	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.000000	0.35970	N	0.002865	D	0.93025	0.7780	H	0.99573	4.635	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95773	0.8810	10	0.87932	D	0	.	19.6414	0.95758	0.0:0.0:1.0:0.0	.	296;296	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	H	296	ENSP00000311859:D296H;ENSP00000352785:D296H	ENSP00000311859:D296H	D	+	1	0	DSG4	27226182	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.934000	0.92915	2.721000	0.93114	0.655000	0.94253	GAT		0.358	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		3	38	0	0	0	1	0	3	38				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	35	0	0	0	1	0	5	35				
RALGAPB	57148	broad.mit.edu	37	20	37153437	37153437	+	Missense_Mutation	SNP	A	A	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:37153437A>T	ENST00000262879.6	+	11	1920	c.1636A>T	c.(1636-1638)Att>Ttt	p.I546F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000537204.1_Nonstop_Mutation_p.*478Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	546					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGCTTTTAATTCAAGGTTT	0.328																																						ENST00000537204.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1432-1434)taA>taT		Ral GTPase activating protein, beta subunit (non-catalytic)							161.0	149.0	153.0					20																	37153437		2202	4300	6502	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153437A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1636A>T	20.37:g.37153437A>T	ENSP00000262879:p.Ile546Phe					RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000262879.6_Missense_Mutation_p.I546F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F	p.*478Y			Q86X10	RLGPB_HUMAN			10	1684	+			0					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonstop_Mutation	SNP	ENST00000262879.6	37	c.1434A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.700221|3.700221	0.68501|0.68501	.|.	.|.	ENSG00000170471|ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490|ENST00000537204	T;T|.	0.65732|.	-0.17;-0.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.150888|.	0.64402|.	D|.	0.000019|.	T|.	0.44891|.	0.1315|.	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P|.	0.41131|.	0.739;0.571;0.571;0.571|.	B;B;B;B|.	0.43728|.	0.429;0.395;0.395;0.395|.	T|.	0.37009|.	-0.9724|.	10|.	0.33940|.	T|.	0.23|.	.|.	9.8766|9.8766	0.41207|0.41207	0.9234:0.0:0.0766:0.0|0.9234:0.0:0.0766:0.0	.|.	374;546;546;546|.	A2A2F0;Q86X10-4;A2A2E9;Q86X10|.	.;.;.;RLGPB_HUMAN|.	F|Y	546;546;546;324;546;374|478	ENSP00000262879:I546F;ENSP00000380233:I546F|.	ENSP00000262879:I546F|.	I|X	+|+	1|3	0|2	RALGAPB|RALGAPB	36586851|36586851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.529000|7.529000	0.81952|0.81952	2.035000|2.035000	0.60131|0.60131	0.459000|0.459000	0.35465|0.35465	ATT|TAA		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		42	53	0	0	0	1	0	42	53				
GTF2IRD1P1	729156	broad.mit.edu	37	7	66296199	66296199	+	RNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:66296199C>T	ENST00000457166.1	-	0	667					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		GCATCTCCATCCCACAATCAG	0.567																																						ENST00000457166.1																			0																																																			0							g.chr7:66296199C>T			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66296199C>T								NR_003934.1						0	667	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.567	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	32	0	0	0	1	0	3	32				
UBP1	7342	broad.mit.edu	37	3	33450189	33450189	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:33450189C>T	ENST00000283629.3	-	8	1449	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	307					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TACACTGCCTCGCTTTGCCAG	0.448																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(919-921)cGa>cAa		upstream binding protein 1 (LBP-1a)							104.0	99.0	100.0					3																	33450189		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450189C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.920G>A	3.37:g.33450189C>T	ENSP00000283629:p.Arg307Gln					UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Intron	p.R307Q	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			8	1449	-			307					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.920G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202641	0.79127	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.47716	1.5	0.58432	D	0.999991	D	0.69078	0.997	D	0.70227	0.968	T	0.00492	-1.1707	10	0.26408	T	0.33	-8.6651	18.3756	0.90435	0.0:1.0:0.0:0.0	.	307	Q9NZI7	UBIP1_HUMAN	Q	307	ENSP00000283629:R307Q;ENSP00000283628:R307Q	ENSP00000283628:R307Q	R	-	2	0	UBP1	33425193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.985000	0.76193	2.780000	0.95670	0.585000	0.79938	CGA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		5	63	0	0	0	1	0	5	63				
OPN4	94233	broad.mit.edu	37	10	88419672	88419672	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:88419672C>A	ENST00000241891.5	+	6	988	c.821C>A	c.(820-822)gCc>gAc	p.A274D	OPN4_ENST00000372071.2_Missense_Mutation_p.A285D	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	274					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACCTTCGGGGCCTGCAAGGGC	0.637																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(853-855)gCc>gAc		opsin 4							100.0	75.0	84.0					10																	88419672		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419672C>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.821C>A	10.37:g.88419672C>A	ENSP00000241891:p.Ala274Asp					OPN4_ENST00000241891.5_Missense_Mutation_p.A274D	p.A285D	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			7	1081	+			274					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.854C>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193691	0.38707	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71934	-0.61;-0.61;-0.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	1.783920	0.02624	N	0.103535	T	0.78947	0.4364	M	0.84511	2.7	0.09310	N	0.999996	B;P;P	0.39862	0.27;0.475;0.692	B;B;B	0.39840	0.216;0.158;0.311	T	0.66626	-0.5876	10	0.48119	T	0.1	.	13.0628	0.59015	0.0:0.8243:0.1757:0.0	.	285;274;285	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	D	285;274;285	ENSP00000361141:A285D;ENSP00000241891:A274D;ENSP00000393132:A285D	ENSP00000241891:A274D	A	+	2	0	OPN4	88409652	0.946000	0.32159	0.999000	0.59377	0.692000	0.40212	1.363000	0.34159	2.378000	0.81104	0.650000	0.86243	GCC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		5	61	1	0	0.000602214	1	0.000625156	5	61				
MACF1	23499	broad.mit.edu	37	1	39799522	39799522	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:39799522C>T	ENST00000372915.3	+	36	7364	c.7277C>T	c.(7276-7278)tCa>tTa	p.S2426L	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L|MACF1_ENST00000564288.1_Missense_Mutation_p.S2421L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2426					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGTTTCAGTAACTTTG	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(7261-7263)tCa>tTa		microtubule-actin crosslinking factor 1							61.0	62.0	62.0					1																	39799522		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799522C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7277C>T	1.37:g.39799522C>T	ENSP00000362006:p.Ser2426Leu					MACF1_ENST00000372915.3_Missense_Mutation_p.S2426L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	p.S2421L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8039	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2426					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.7262C>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.332729	0.60853	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.80480	-1.38;-1.38	5.47	5.47	0.80525	.	0.138084	0.33591	N	0.004759	D	0.90954	0.7156	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91930	0.5554	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	2426	Q9UPN3	MACF1_HUMAN	L	2426;861	ENSP00000362006:S2426L;ENSP00000289893:S861L	ENSP00000289893:S861L	S	+	2	0	MACF1	39572109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.601000	0.82783	2.560000	0.86352	0.561000	0.74099	TCA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	87	0	0	0	1	0	5	87				
C16orf62	57020	broad.mit.edu	37	16	19711771	19711771	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:19711771C>T	ENST00000251143.5	+	31	2877	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	C16orf62_ENST00000438132.3_Silent_p.L1044L|C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000542263.1_Silent_p.L951L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	955						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCTGGCCCTCAGACTCCCTC	0.522																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(3130-3132)ctC>ctT		chromosome 16 open reading frame 62							88.0	88.0	88.0					16																	19711771		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19711771C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2865C>T	16.37:g.19711771C>T						C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000542263.1_Silent_p.L951L|C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000251143.5_Silent_p.L955L	p.L1044L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			31	3180	+			955					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.3132C>T																																																																																					0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		20	35	0	0	0	1	0	20	35				
LRPPRC	10128	broad.mit.edu	37	2	44174896	44174896	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:44174896C>G	ENST00000260665.7	-	19	1996	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	647					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTTACTCTCAACCAACAAG	0.294																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1939-1941)Gag>Cag		leucine-rich pentatricopeptide repeat containing							63.0	64.0	64.0					2																	44174896		2203	4288	6491	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44174896C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1939G>C	2.37:g.44174896C>G	ENSP00000260665:p.Glu647Gln						p.E647Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			19	1996	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	647					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1939G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359495	0.11239	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.38	4.51	0.55191	.	1.061880	0.07303	N	0.874429	T	0.41811	0.1175	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.27559	0.045;0.181	B;B	0.28638	0.007;0.092	T	0.19679	-1.0298	10	0.19147	T	0.46	-8.638	6.0762	0.19917	0.0:0.6771:0.1564:0.1665	.	547;647	F5H4J6;P42704	.;LPPRC_HUMAN	Q	547;647	ENSP00000260665:E647Q	ENSP00000260665:E647Q	E	-	1	0	LRPPRC	44028400	0.103000	0.21917	0.895000	0.35142	0.008000	0.06430	0.342000	0.19926	1.415000	0.47037	0.655000	0.94253	GAG		0.294	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		4	19	0	0	0	1	0	4	19				
PRSS1	5644	broad.mit.edu	37	7	142458441	142458441	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142458441G>A	ENST00000311737.7	+	2	82	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	PRSS1_ENST00000486171.1_Missense_Mutation_p.G26R	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	26	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CAAGATCGTTGGGGGCTACAA	0.547																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(76-78)Ggg>Agg		protease, serine, 1 (trypsin 1)							156.0	153.0	154.0					7																	142458441		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458441G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.76G>A	7.37:g.142458441G>A	ENSP00000308720:p.Gly26Arg					PRSS1_ENST00000311737.7_Missense_Mutation_p.G26R	p.G26R			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	93	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	26			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.76G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943648	0.53079	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.95554	-3.74;-3.74	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	26	P07477	TRY1_HUMAN	R	26	ENSP00000417854:G26R;ENSP00000308720:G26R	ENSP00000308720:G26R	G	+	1	0	PRSS1	142138015	1.000000	0.71417	0.986000	0.45419	0.006000	0.05464	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGG		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			8	203	0	0	0	1	0	8	203				
LARGE	9215	broad.mit.edu	37	22	34046477	34046477	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:34046477C>T	ENST00000354992.2	-	4	855	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	95					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGGTTGCCTCGGCGATGGGA	0.682																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(283-285)cGa>cAa		like-glycosyltransferase							59.0	55.0	56.0					22																	34046477		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046477C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.284G>A	22.37:g.34046477C>T	ENSP00000347088:p.Arg95Gln					LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q|LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q	p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			4	855	-		Lung NSC(1;0.219)	95					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.284G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092381	0.55968	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51325	1.2;1.19;1.2;1.19;0.71;1.53;1.53;1.52	5.45	4.44	0.53790	.	0.188426	0.46145	D	0.000313	T	0.24967	0.0606	N	0.08118	0	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.013	B;B;B	0.12156	0.004;0.007;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-4.4186	10.1789	0.42955	0.0:0.8488:0.0:0.1512	.	95;95;95	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Q	95	ENSP00000347088:R95Q;ENSP00000336636:R95Q;ENSP00000380549:R95Q;ENSP00000385223:R95Q;ENSP00000388544:R95Q;ENSP00000396277:R95Q;ENSP00000415546:R95Q;ENSP00000389605:R95Q	ENSP00000336636:R95Q	R	-	2	0	LARGE	32376477	0.468000	0.25839	0.837000	0.33122	0.937000	0.57800	0.856000	0.27818	1.296000	0.44742	0.563000	0.77884	CGA		0.682	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	120	0	0	0	1	0	8	120				
ABCC5	10057	broad.mit.edu	37	3	183685541	183685541	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:183685541C>T	ENST00000334444.6	-	12	2015	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ABCC5_ENST00000265586.6_Missense_Mutation_p.G592E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	592	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCCACAGATTCCAACCAGTTT	0.438																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1774-1776)gGa>gAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							165.0	169.0	168.0					3																	183685541		1928	4133	6061	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183685541C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1775G>A	3.37:g.183685541C>T	ENSP00000333926:p.Gly592Glu					ABCC5_ENST00000265586.6_Missense_Mutation_p.G592E	p.G592E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		12	2015	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		592			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1775G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850517	0.91277	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91407	-2.84;-2.84	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.984	D	0.96272	0.9199	10	0.87932	D	0	-13.4223	20.005	0.97433	0.0:1.0:0.0:0.0	.	592;592	Q86UX3;O15440	.;MRP5_HUMAN	E	592;528;592	ENSP00000333926:G592E;ENSP00000265586:G592E	ENSP00000265586:G592E	G	-	2	0	ABCC5	185168235	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.456000	0.80751	2.726000	0.93360	0.563000	0.77884	GGA		0.438	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		5	121	0	0	0	1	0	5	121				
UBR2	23304	broad.mit.edu	37	6	42626418	42626418	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:42626418G>A	ENST00000372899.1	+	29	3356	c.3098G>A	c.(3097-3099)aGa>aAa	p.R1033K	UBR2_ENST00000372901.1_Missense_Mutation_p.R1033K|UBR2_ENST00000372883.3_Missense_Mutation_p.E541K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1033					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGAGGAAGAGAAAAGCAGAG	0.393																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(3097-3099)aGa>aAa		ubiquitin protein ligase E3 component n-recognin 2							81.0	81.0	81.0					6																	42626418		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626418G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3098G>A	6.37:g.42626418G>A	ENSP00000361990:p.Arg1033Lys					UBR2_ENST00000372883.3_Missense_Mutation_p.E541K|UBR2_ENST00000372901.1_Missense_Mutation_p.R1033K	p.R1033K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		29	3356	+	Colorectal(47;0.196)		1033					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3098G>A	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.435016|4.435016	0.83885|0.83885	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372883|ENST00000372899;ENST00000372901	T|T;T	0.55234|0.66815	0.53|-0.23;-0.23	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59432|0.59432	0.2193|0.2193	M|M	0.66939|0.66939	2.045|2.045	0.46631|0.46631	D|D	0.999135|0.999135	.|P;B	.|0.46859	.|0.885;0.402	.|B;B	.|0.41374	.|0.355;0.074	T|T	0.63075|0.63075	-0.6718|-0.6718	7|9	0.05959|.	T|.	0.93|.	-23.6361|-23.6361	19.7043|19.7043	0.96067|0.96067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1033;1033	.|Q8IWV8-4;Q8IWV8	.|.;UBR2_HUMAN	K|K	541|1033	ENSP00000361974:E541K|ENSP00000361990:R1033K;ENSP00000361992:R1033K	ENSP00000361974:E541K|.	E|R	+|+	1|2	0|0	UBR2|UBR2	42734396|42734396	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	9.864000|9.864000	0.99589|0.99589	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		4	64	0	0	0	1	0	4	64				
COX20	116228	broad.mit.edu	37	1	245006477	245006477	+	Nonstop_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:245006477G>C	ENST00000411948.2	+	4	749	c.356G>C	c.(355-357)tGa>tCa	p.*119S	HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Nonstop_Mutation_p.*131S	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	0						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											AGCAGCAATTGAACAATCTTG	0.348																																						ENST00000411948.2																			0											c.(355-357)tGa>tCa		COX20 cytochrome C oxidase assembly factor							50.0	66.0	61.0					1																	245006477		2198	4299	6497	SO:0001578	stop_lost	116228					integral to membrane		g.chr1:245006477G>C	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.356G>C	1.37:g.245006477G>C	ENSP00000406327:p.*119Serext*29					COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Nonstop_Mutation_p.*131S	p.*119S	NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			4	749	+			0					Q8WV86	Nonstop_Mutation	SNP	ENST00000411948.2	37	c.356G>C	CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	4.619	0.115140	0.08831	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	4.24	-3.53	0.04667	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.223	0.43209	0.6457:0.0:0.3543:0.0	.	.	.	.	S	119;131	.	.	X	+	2	2	FAM36A	243073100	0.053000	0.20554	0.000000	0.03702	0.106000	0.19336	0.039000	0.13884	-0.756000	0.04703	-0.262000	0.10625	TGA		0.348	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076		4	68	0	0	0	1	0	4	68				
UBE2A	7319	broad.mit.edu	37	X	118708873	118708873	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:118708873G>A	ENST00000371558.2	+	2	228	c.54G>A	c.(52-54)gaG>gaA	p.E18E	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.E18E	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692								Rad6 pathway																														ENST00000371558.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						c.(52-54)gaG>gaA	Rad6 pathway	ubiquitin-conjugating enzyme E2A							149.0	119.0	129.0					X																	118708873		2203	4300	6503	SO:0001819	synonymous_variant	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708873G>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.54G>A	X.37:g.118708873G>A						UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.E18E	p.E18E	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN			2	228	+			18					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Silent	SNP	ENST00000371558.2	37	c.54G>A	CCDS14580.1																																																																																				0.692	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		29	46	0	0	0	1	0	29	46				
MST1R	4486	broad.mit.edu	37	3	49933541	49933541	+	Splice_Site	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49933541C>T	ENST00000296474.3	-	11	2677		c.e11-1		MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)						cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCAATATACTGCAGAGAGG	0.577																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.e11-1		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							94.0	105.0	101.0					3																	49933541		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933541C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2650-1G>A	3.37:g.49933541C>T						MST1R_ENST00000344206.4_Intron		NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	11	2677	-								B5A944|B5A945|B5A946|B5A947	Splice_Site	SNP	ENST00000296474.3	37		CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998827	0.35226	.	.	ENSG00000164078	ENST00000296474	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8376	0.78811	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MST1R	49908545	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.363000	0.59473	2.521000	0.84997	0.313000	0.20887	.		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Intron	55	127	0	0	0	1	0	55	127				
NUP214	8021	broad.mit.edu	37	9	134021671	134021671	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:134021671C>T	ENST00000359428.5	+	13	2069	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S642L|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S631L|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	642	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGAAGTCCTCAGTCTTGCCC	0.502			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1924-1926)tCa>tTa		nucleoporin 214kDa							323.0	273.0	290.0					9																	134021671		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021671C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1925C>T	9.37:g.134021671C>T	ENSP00000352400:p.Ser642Leu					RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S642L|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S631L|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA	p.S642L			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	2069	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	642			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1925C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476576	0.44044	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34859	1.36;1.36;1.34	4.76	4.76	0.60689	.	0.221431	0.23114	N	0.051769	T	0.20210	0.0486	N	0.08118	0	0.09310	N	1	P;B;B	0.40731	0.728;0.386;0.386	B;B;B	0.36666	0.23;0.178;0.178	T	0.13045	-1.0524	10	0.41790	T	0.15	-1.5901	14.6119	0.68522	0.0:1.0:0.0:0.0	.	235;631;642	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	L	642;631;642;631;235;71	ENSP00000352400:S642L;ENSP00000396576:S631L;ENSP00000405014:S642L	ENSP00000352400:S642L	S	+	2	0	NUP214	133011492	0.001000	0.12720	0.005000	0.12908	0.592000	0.36648	1.320000	0.33666	2.468000	0.83385	0.491000	0.48974	TCA		0.502	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		9	247	0	0	0	1	0	9	247				
ZFHX3	463	broad.mit.edu	37	16	72821420	72821420	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:72821420A>C	ENST00000268489.5	-	10	11427	c.10755T>G	c.(10753-10755)tcT>tcG	p.S3585S	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2671S|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3585					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGCGAGGTAGATGCGGTGC	0.617																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10753-10755)tcT>tcG		zinc finger homeobox 3							273.0	211.0	232.0					16																	72821420		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821420A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10755T>G	16.37:g.72821420A>C						ZFHX3_ENST00000397992.5_Silent_p.S2671S	p.S3585S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11427	-		Ovarian(137;0.13)	3585					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10755T>G	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	80	0	0	0	1	0	48	80				
THOC5	8563	broad.mit.edu	37	22	29915049	29915049	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:29915049G>C	ENST00000490103.1	-	15	1557	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	THOC5_ENST00000397871.1_Missense_Mutation_p.L479V|THOC5_ENST00000397872.1_Missense_Mutation_p.L479V|THOC5_ENST00000397873.2_Missense_Mutation_p.L479V|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	479					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGGTCTTCAGAAGTTTCATG	0.537																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1435-1437)Ctg>Gtg		THO complex 5							226.0	183.0	197.0					22																	29915049		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915049G>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1435C>G	22.37:g.29915049G>C	ENSP00000420306:p.Leu479Val					THOC5_ENST00000397873.2_Missense_Mutation_p.L479V|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.L479V|THOC5_ENST00000397872.1_Missense_Mutation_p.L479V	p.L479V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			15	1557	-			479					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1435C>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755654	0.69648	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.76	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.55103	1.725	0.80722	D	1	P	0.48503	0.911	B	0.40741	0.339	T	0.02352	-1.1172	10	0.62326	D	0.03	-13.9922	12.1911	0.54273	0.1369:0.0:0.8631:0.0	.	479	Q13769	THOC5_HUMAN	V	479	ENSP00000420306:L479V;ENSP00000380970:L479V;ENSP00000380969:L479V;ENSP00000380971:L479V	ENSP00000380969:L479V	L	-	1	2	THOC5	28245049	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.507000	0.73717	0.801000	0.34066	-0.768000	0.03414	CTG		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		6	157	0	0	0	1	0	6	157				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	115	0	0	0	1	0	9	115				
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12								Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20								TBC1 domain family, member 12							13.0	14.0	14.0					10																	96162370		1622	3714	5336			23232					intracellular	Rab GTPase activator activity	g.chr10:96162370G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794		10.37:g.96162370G>A								NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			0	110	+		Colorectal(252;0.0429)						Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Translation_Start_Site	SNP	ENST00000225235.4	37		CCDS41553.1																																																																																				0.697	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			6	27	0	0	0	1	0	6	27				
CBX5	23468	broad.mit.edu	37	12	54651351	54651351	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:54651351C>A	ENST00000439541.2	-	2	209	c.84G>T	c.(82-84)agG>agT	p.R28S	CBX5_ENST00000550411.1_Missense_Mutation_p.R28S|RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000209875.4_Missense_Mutation_p.R28S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	28	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TAACCACGCGCCTGTCTAGCA	0.488																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(82-84)agG>agT		chromobox homolog 5							178.0	154.0	162.0					12																	54651351		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651351C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.84G>T	12.37:g.54651351C>A	ENSP00000401009:p.Arg28Ser					CBX5_ENST00000439541.2_Missense_Mutation_p.R28S|CBX5_ENST00000550411.1_Missense_Mutation_p.R28S	p.R28S	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			2	220	-			28			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.84G>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420968	0.42918	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.65	1.58	0.23477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.35854	1.095	0.58432	D	0.999999	P;B	0.51449	0.945;0.447	D;B	0.66351	0.943;0.411	T	0.66392	-0.5935	10	0.52906	T	0.07	-13.7831	3.2693	0.06876	0.1772:0.4823:0.0:0.3405	.	28;28	G3V1X9;P45973	.;CBX5_HUMAN	S	28	ENSP00000209875:R28S;ENSP00000401009:R28S;ENSP00000449207:R28S;ENSP00000450190:R28S	ENSP00000209875:R28S	R	-	3	2	CBX5	52937618	0.788000	0.28762	1.000000	0.80357	0.619000	0.37552	-0.089000	0.11180	0.478000	0.27488	-0.137000	0.14449	AGG		0.488	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		41	63	1	0	4.40578e-31	1	4.75475e-31	41	63				
LOX	4015	broad.mit.edu	37	5	121413255	121413255	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:121413255C>T	ENST00000231004.4	-	1	725	c.426G>A	c.(424-426)gcG>gcA	p.A142A	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	142					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCTGGTTCTCCGCGCGCGAGG	0.682																																						ENST00000231004.4																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(424-426)gcG>gcA		lysyl oxidase							23.0	28.0	27.0					5																	121413255		2179	4294	6473	SO:0001819	synonymous_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413255C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.426G>A	5.37:g.121413255C>T							p.A142A	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	1	725	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	142					B2R5Q3|Q5FWF0	Silent	SNP	ENST00000231004.4	37	c.426G>A	CCDS4129.1																																																																																				0.682	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			28	38	0	0	0	1	0	28	38				
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1				BMS1 pseudogene 20																		CTGAATCATGCAGAATTTGAA	0.408																																						ENST00000426066.1																			0																																																			0							g.chr22:22661208C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661208C>T								NR_027293.1						0	300	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	47	0	0	0	1	0	4	47				
GOLGA2P5	55592	broad.mit.edu	37	12	100551837	100551837	+	RNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:100551837C>T	ENST00000397112.4	-	0	1618				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						ACCTCCTCCTCCTCCTCACTG	0.632																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															86.0	62.0	70.0					12																	100551837		2203	4300	6503			0							g.chr12:100551837C>T																													12.37:g.100551837C>T								NR_036632.1						0	1618	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.632	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	14	0	0	0	1	0	3	14				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	37	0	0	0	1	0	3	37				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	26	0	0	0	1	0	24	26				
FAM53B	9679	broad.mit.edu	37	10	126312016	126312016	+	Missense_Mutation	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:126312016A>C	ENST00000337318.3	-	5	1275	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	355										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGCTCAGGGACCGGGGTCCC	0.706																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1063-1065)gTc>gGc		family with sequence similarity 53, member B							13.0	13.0	13.0					10																	126312016		2188	4278	6466	SO:0001583	missense	9679							g.chr10:126312016A>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1064T>G	10.37:g.126312016A>C	ENSP00000338532:p.Val355Gly					RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G	p.V355G	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1275	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	355					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1064T>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	A	1.879	-0.458415	0.04508	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	1.56	0.23342	.	0.751657	0.12430	N	0.469651	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	9	0.40728	T	0.16	-6.6267	5.5059	0.16854	0.6684:0.1604:0.1713:0.0	.	355	Q14153	FA53B_HUMAN	G	355	.	ENSP00000338532:V355G	V	-	2	0	FAM53B	126302006	0.972000	0.33761	0.001000	0.08648	0.349000	0.29174	1.981000	0.40628	0.461000	0.27071	0.533000	0.62120	GTC		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		13	11	0	0	0	1	0	13	11				
ADAMTS9	56999	broad.mit.edu	37	3	64527091	64527091	+	Splice_Site	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:64527091C>G	ENST00000498707.1	-	35	5635		c.e35-1		ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACAGAATATCTGAAAGACCA	0.458																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.e35-1		ADAM metallopeptidase with thrombospondin type 1 motif, 9							119.0	124.0	122.0					3																	64527091		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527091C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5293-1G>C	3.37:g.64527091C>G						ADAMTS9_ENST00000295903.4_Splice_Site		NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5635	-		Lung NSC(201;0.00682)						A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37		CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247807	0.80024	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000481060	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS9	64502131	1.000000	0.71417	0.604000	0.28916	0.864000	0.49448	7.076000	0.76806	2.714000	0.92807	0.561000	0.74099	.		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Intron	6	126	0	0	0	1	0	6	126				
PELO	53918	broad.mit.edu	37	5	52097426	52097426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:52097426G>T	ENST00000274311.2	+	3	1895	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	304					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GAAGGCCAATGAAGCCATGGC	0.502																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(910-912)Gaa>Taa		pelota homolog (Drosophila)							97.0	84.0	88.0					5																	52097426		2203	4300	6503	SO:0001587	stop_gained	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52097426G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.910G>T	5.37:g.52097426G>T	ENSP00000274311:p.Glu304*					PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	p.E304*	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			3	1895	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	304					Q9GZS6|Q9Y306	Nonsense_Mutation	SNP	ENST00000274311.2	37	c.910G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150867	0.99640	.	.	ENSG00000152684	ENST00000274311	.	.	.	5.91	5.91	0.95273	.	0.063718	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.5117	19.9	0.96981	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000274311:E304X	E	+	1	0	PELO	52133183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GAA		0.502	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		20	48	1	0	8.00594e-06	1	8.47231e-06	20	48				
SLC30A8	169026	broad.mit.edu	37	8	118159317	118159317	+	Missense_Mutation	SNP	G	G	A	rs200895741		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:118159317G>A	ENST00000456015.2	+	2	196	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SLC30A8_ENST00000519688.1_Missense_Mutation_p.E17K|SLC30A8_ENST00000427715.2_Missense_Mutation_p.E17K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E17K	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	66					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)	p.E66Q(1)		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)			GGGGGCGAATGAGTACGCCTA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18639	0.0		0.0	False		,,,				2504	0.0				Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			1	Substitution - Missense(1)	p.E66Q(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(49-51)Gag>Aag		solute carrier family 30 (zinc transporter), member 8							176.0	149.0	159.0					8																	118159317		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.chr8:118159317G>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.196G>A	8.37:g.118159317G>A	ENSP00000415011:p.Glu66Lys					SLC30A8_ENST00000521243.1_Missense_Mutation_p.E17K|SLC30A8_ENST00000456015.2_Missense_Mutation_p.E66K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E17K	p.E17K	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		5	483	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		66					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.49G>A	CCDS6322.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.946	1.218833	0.22373	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64260	-0.03;-0.03;-0.03;-0.09	5.97	4.16	0.48862	.	0.050799	0.85682	N	0.000000	T	0.39253	0.1071	N	0.11560	0.145	0.54753	D	0.999983	B	0.09022	0.002	B	0.12837	0.008	T	0.18618	-1.0331	10	0.18276	T	0.48	-14.5488	10.4253	0.44373	0.1596:0.0:0.8404:0.0	.	66	Q8IWU4	ZNT8_HUMAN	K	17;17;17;17;66	ENSP00000428545:E17K;ENSP00000407505:E17K;ENSP00000431069:E17K;ENSP00000415011:E66K	ENSP00000407505:E17K	E	+	1	0	SLC30A8	118228498	1.000000	0.71417	0.693000	0.30195	0.025000	0.11179	3.699000	0.54778	1.508000	0.48769	0.655000	0.94253	GAG		0.498	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	133	0	0	0	1	0	5	133				
KIAA1919	91749	broad.mit.edu	37	6	111583465	111583465	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:111583465G>A	ENST00000368847.4	+	2	386	c.33G>A	c.(31-33)ttG>ttA	p.L11L		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	11					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTAGGGATTGAGTGTTGCTA	0.358																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(31-33)ttG>ttA		KIAA1919							156.0	150.0	152.0					6																	111583465		2203	4300	6503	SO:0001819	synonymous_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583465G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.33G>A	6.37:g.111583465G>A							p.L11L	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	386	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	11					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	c.33G>A	CCDS5090.1																																																																																				0.358	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		5	109	0	0	0	1	0	5	109				
C10orf62	414157	broad.mit.edu	37	10	99349675	99349675	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:99349675G>C	ENST00000370640.3	+	1	226	c.21G>C	c.(19-21)aaG>aaC	p.K7N	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	7										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TTCAGAGAAAGAGGAGAAGAA	0.498																																						ENST00000370640.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(19-21)aaG>aaC		chromosome 10 open reading frame 62							101.0	102.0	102.0					10																	99349675		2203	4300	6503	SO:0001583	missense	414157						protein binding	g.chr10:99349675G>C		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.21G>C	10.37:g.99349675G>C	ENSP00000359674:p.Lys7Asn					HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron	p.K7N	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	1	226	+		Colorectal(252;0.162)	7					Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	c.21G>C	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238002	0.39598	.	.	ENSG00000203942	ENST00000370640	T	0.55234	0.53	4.01	2.09	0.27110	.	0.155263	0.29760	U	0.011279	T	0.54159	0.1841	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.52449	-0.8574	10	0.72032	D	0.01	-22.5031	6.9497	0.24538	0.2272:0.0:0.7728:0.0	.	7	Q5T681	CJ062_HUMAN	N	7	ENSP00000359674:K7N	ENSP00000359674:K7N	K	+	3	2	C10orf62	99339665	0.984000	0.35163	0.504000	0.27639	0.580000	0.36256	0.514000	0.22786	0.264000	0.21851	0.453000	0.30009	AAG		0.498	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		5	88	0	0	0	1	0	5	88				
NUP93	9688	broad.mit.edu	37	16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	rs528073782		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:56782199G>A	ENST00000308159.5	+	2	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	NUP93_ENST00000569842.1_Missense_Mutation_p.E14K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	14					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E14K(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			3	Substitution - Missense(3)	p.E14K(3)	breast(2)|upper_aerodigestive_tract(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(40-42)Gaa>Aaa		nucleoporin 93kDa							67.0	65.0	66.0					16																	56782199		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782199G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.40G>A	16.37:g.56782199G>A	ENSP00000310668:p.Glu14Lys					NUP93_ENST00000308159.5_Missense_Mutation_p.E14K	p.E14K			Q8N1F7	NUP93_HUMAN			2	136	+			14					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.40G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428130	0.83667	.	.	ENSG00000102900	ENST00000308159	T	0.44083	0.93	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.39898	1.24	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.22208	-1.0223	10	0.12103	T	0.63	-21.6196	20.8598	0.99761	0.0:0.0:1.0:0.0	.	14	Q8N1F7	NUP93_HUMAN	K	14	ENSP00000310668:E14K	ENSP00000310668:E14K	E	+	1	0	NUP93	55339700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAA		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		6	74	0	0	0	1	0	6	74				
DLC1	10395	broad.mit.edu	37	8	12957007	12957007	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:12957007G>A	ENST00000276297.4	-	9	3248	c.2839C>T	c.(2839-2841)Cca>Tca	p.P947S	DLC1_ENST00000512044.2_Missense_Mutation_p.P544S|DLC1_ENST00000520226.1_Missense_Mutation_p.P436S|DLC1_ENST00000358919.2_Missense_Mutation_p.P510S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	947					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATCTGTTTTGGAGAGGACGGG	0.567																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2839-2841)Cca>Tca		deleted in liver cancer 1							102.0	95.0	98.0					8																	12957007		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957007G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2839C>T	8.37:g.12957007G>A	ENSP00000276297:p.Pro947Ser					DLC1_ENST00000520226.1_Missense_Mutation_p.P436S|DLC1_ENST00000512044.2_Missense_Mutation_p.P544S|DLC1_ENST00000358919.2_Missense_Mutation_p.P510S	p.P947S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3248	-			947					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2839C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989532	0.74589	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.08102	3.49;3.25;3.24;3.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.58669	1.825	0.80722	D	1	D;P;D	0.89917	1.0;0.942;1.0	D;P;D	0.87578	0.991;0.463;0.998	T	0.00115	-1.2039	10	0.46703	T	0.11	.	19.6216	0.95658	0.0:0.0:1.0:0.0	.	947;544;510	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	947;510;544;436	ENSP00000276297:P947S;ENSP00000351797:P510S;ENSP00000422595:P544S;ENSP00000428028:P436S	ENSP00000276297:P947S	P	-	1	0	DLC1	13001378	1.000000	0.71417	0.946000	0.38457	0.792000	0.44763	9.624000	0.98398	2.717000	0.92951	0.655000	0.94253	CCA		0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	71	0	0	0	1	0	4	71				
TMEM38A	79041	broad.mit.edu	37	19	16799102	16799102	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:16799102C>G	ENST00000187762.2	+	6	911	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(820-822)Cag>Gag		transmembrane protein 38A							65.0	67.0	66.0					19																	16799102		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799102C>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.820C>G	19.37:g.16799102C>G	ENSP00000187762:p.Gln274Glu						p.Q274E	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	911	+			274					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.820C>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	1.386	-0.582102	0.03827	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	1.97	0.26223	.	0.786063	0.11766	N	0.531636	T	0.22437	0.0541	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.31052	-0.9957	9	0.02654	T	1	-0.05	6.8022	0.23758	0.0:0.7234:0.1769:0.0997	.	274	Q9H6F2	TM38A_HUMAN	E	274	.	ENSP00000187762:Q274E	Q	+	1	0	TMEM38A	16660102	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	0.833000	0.27504	0.243000	0.21327	0.561000	0.74099	CAG		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		8	170	0	0	0	1	0	8	170				
HMOX2	3163	broad.mit.edu	37	16	4557905	4557905	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:4557905G>A	ENST00000570646.1	+	4	1001	c.396G>A	c.(394-396)caG>caA	p.Q132Q	HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	132					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCTGCCCAGAAGTACGTGG	0.607																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(394-396)caG>caA		heme oxygenase (decycling) 2	NADH(DB00157)						51.0	50.0	50.0					16																	4557905		2197	4300	6497	SO:0001819	synonymous_variant	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4557905G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.396G>A	16.37:g.4557905G>A						HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q|HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q	p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			4	1001	+			132					A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	c.396G>A	CCDS10517.1																																																																																				0.607	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			6	69	0	0	0	1	0	6	69				
CPA1	1357	broad.mit.edu	37	7	130027837	130027837	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:130027837G>C	ENST00000011292.3	+	10	1395	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	CPA1_ENST00000484324.1_Silent_p.L327L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	415					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1243-1245)ctG>ctC		carboxypeptidase A1 (pancreatic)							210.0	192.0	198.0					7																	130027837		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027837G>C		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1245G>C	7.37:g.130027837G>C						CPA1_ENST00000484324.1_Silent_p.L327L	p.L415L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			10	1395	+	Melanoma(18;0.0435)		415					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1245G>C	CCDS5820.1																																																																																				0.567	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		14	278	0	0	0	1	0	14	278				
MUC4	4585	broad.mit.edu	37	3	195505811	195505811	+	Missense_Mutation	SNP	T	T	C	rs201373238		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:195505811T>C	ENST00000463781.3	-	2	13099	c.12640A>G	c.(12640-12642)Act>Gct	p.T4214A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4214A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.592																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12640-12642)Act>Gct		mucin 4, cell surface associated							29.0	25.0	26.0					3																	195505811		691	1580	2271	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505811T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12640A>G	3.37:g.195505811T>C	ENSP00000417498:p.Thr4214Ala					MUC4_ENST00000475231.1_Missense_Mutation_p.T4214A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.T4214A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13099	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	971					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12640A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	3.021	-0.201775	0.06219	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.5;1.47	0.285	-0.57	0.11753	.	.	.	.	.	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.26780	-1.0093	7	.	.	.	.	.	.	.	.	4086	E7ESK3	.	A	4214	ENSP00000417498:T4214A;ENSP00000420243:T4214A	.	T	-	1	0	MUC4	196990590	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.688000	0.01435	-1.741000	0.00685	ACT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	14	0	0	0	1	0	3	14				
DST	667	broad.mit.edu	37	6	56496024	56496024	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:56496024G>A	ENST00000361203.3	-	26	3501	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	DST_ENST00000421834.2_Missense_Mutation_p.S1165F|DST_ENST00000370754.5_Missense_Mutation_p.S1343F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000518935.1_Missense_Mutation_p.S839F			Q03001	DYST_HUMAN	dystonin	1165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTAAGTGGAAGACATAGA	0.318																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4027-4029)tCc>tTc		dystonin							112.0	105.0	107.0					6																	56496024		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496024G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3494C>T	6.37:g.56496024G>A	ENSP00000354508:p.Ser1165Phe					DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000518935.1_Missense_Mutation_p.S839F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000361203.3_Missense_Mutation_p.S1165F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000421834.2_Missense_Mutation_p.S1165F	p.S1343F			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		29	4027	-	Lung NSC(77;0.103)		1165					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4028C>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698399	0.88830	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;1.3;1.3;1.3;1.3;-1.09;1.3;-0.25;-1.09;-1.09;-1.09;-1.09	5.57	5.57	0.84162	.	0.135982	0.33712	N	0.004636	D	0.85957	0.5818	M	0.69823	2.125	0.34927	D	0.749013	P;D;P;P;P;D;P;P	0.69078	0.771;0.989;0.771;0.865;0.831;0.997;0.771;0.534	P;P;P;P;P;D;P;B	0.71656	0.48;0.768;0.48;0.713;0.622;0.974;0.48;0.196	D	0.86433	0.1762	9	0.66056	D	0.02	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1165;1165;1343;839;839;839;1165;839	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	F	839;1343;1165;1165;839;1165;1165;1165;839;1205;839;839	ENSP00000244364:S839F;ENSP00000359790:S1343F;ENSP00000359805:S1165F;ENSP00000400883:S1165F;ENSP00000393645:S839F;ENSP00000307959:S1165F;ENSP00000359824:S1165F;ENSP00000354508:S1165F;ENSP00000404924:S839F;ENSP00000431030:S1205F;ENSP00000359801:S839F;ENSP00000431003:S839F	ENSP00000244364:S839F	S	-	2	0	DST	56603983	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.544000	0.67231	2.636000	0.89361	0.557000	0.71058	TCC		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	23	0	0	0	1	0	7	23				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	39	0	0	0	1	0	4	39				
TRRAP	8295	broad.mit.edu	37	7	98507778	98507778	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:98507778C>T	ENST00000359863.4	+	15	1659	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	TRRAP_ENST00000355540.3_Silent_p.L484L|TRRAP_ENST00000446306.3_Silent_p.L484L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	484					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGCAGCTCTGCCTGGGGT	0.622																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1450-1452)Ctg>Ttg		transformation/transcription domain-associated protein							81.0	89.0	86.0					7																	98507778		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98507778C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1450C>T	7.37:g.98507778C>T						TRRAP_ENST00000446306.3_Silent_p.L484L|TRRAP_ENST00000355540.3_Silent_p.L484L	p.L484L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1659	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		484					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.1450C>T	CCDS59066.1																																																																																				0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		5	118	0	0	0	1	0	5	118				
CROCCP2	84809	broad.mit.edu	37	1	16959814	16959814	+	lincRNA	SNP	C	C	T	rs1759187	byFrequency	TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:16959814C>T	ENST00000412962.1	-	0	43							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.V18I(1)									GCCTCCTGGACAGCTCCCCTC	0.642													.|||	1458	0.291134	0.3638	0.3646	5008	,	,		54229	0.0972		0.3221	False		,,,				2504	0.3088					ENST00000412962.1																			1	Substitution - Missense(1)	p.V18I(1)	endometrium(1)																																																0							g.chr1:16959814C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959814C>T														0	43	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	32	0	0	0	1	0	3	32				
CACNA1E	777	broad.mit.edu	37	1	181767468	181767468	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:181767468C>G	ENST00000367573.2	+	48	6440	c.6440C>G	c.(6439-6441)tCt>tGt	p.S2147C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2085C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2147					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCTGTCTCTGACACCAGC	0.592																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6253-6255)tCt>tGt		calcium channel, voltage-dependent, R type, alpha 1E subunit							124.0	134.0	131.0					1																	181767468		2024	4177	6201	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767468C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6440C>G	1.37:g.181767468C>G	ENSP00000356545:p.Ser2147Cys					CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2147C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C	p.S2085C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			46	6419	+			2147					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6254C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643482	0.87859	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99369	-5.6;-5.58;-4.93;-5.57;-5.78;-4.93;-4.93	5.59	5.59	0.84812	.	0.057749	0.64402	D	0.000001	D	0.99299	0.9755	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.935	D	0.99821	1.1047	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	2085;2104	Q15878-2;Q15878-3	.;.	C	2104;2085;2098;2036;1711;2128;2147	ENSP00000356542:S2104C;ENSP00000434814:S2085C;ENSP00000350183:S2098C;ENSP00000351101:S2036C;ENSP00000356539:S1711C;ENSP00000353222:S2128C;ENSP00000356545:S2147C	ENSP00000350183:S2098C	S	+	2	0	CACNA1E	180034091	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.148000	0.77389	2.622000	0.88805	0.563000	0.77884	TCT		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	182	0	0	0	1	0	13	182				
DPYSL5	56896	broad.mit.edu	37	2	27165613	27165613	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27165613G>C	ENST00000288699.6	+	11	1593	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	479					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCAGAGAGAGAAGGTGAG	0.562											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1435-1437)Gag>Cag		dihydropyrimidinase-like 5							42.0	41.0	42.0					2																	27165613		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165613G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1435G>C	2.37:g.27165613G>C	ENSP00000288699:p.Glu479Gln		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			11	1593	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		479					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1435G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189773	0.78789	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.148703	0.64402	D	0.000015	D	0.87613	0.6221	L	0.59436	1.845	0.53688	D	0.999979	P	0.43885	0.82	B	0.43867	0.434	D	0.85746	0.1340	10	0.34782	T	0.22	-35.3913	19.4349	0.94788	0.0:0.0:1.0:0.0	.	479	Q9BPU6	DPYL5_HUMAN	Q	479	ENSP00000288699:E479Q;ENSP00000385549:E479Q	ENSP00000288699:E479Q	E	+	1	0	DPYSL5	27019117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.894000	0.99253	0.655000	0.94253	GAG		0.562	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		22	48	0	0	0	1	0	22	48				
FRAS1	80144	broad.mit.edu	37	4	79403640	79403640	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:79403640G>A	ENST00000264895.6	+	58	9143	c.8703G>A	c.(8701-8703)ctG>ctA	p.L2901L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2897					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGCCGAACTGACCAAACCCT	0.433																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8701-8703)ctG>ctA		Fraser syndrome 1							153.0	152.0	153.0					4																	79403640		1908	4129	6037	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403640G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8703G>A	4.37:g.79403640G>A							p.L2901L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			58	9143	+			2896					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8703G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	9.706	1.155815	0.21454	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.9	5.05	0.67936	.	.	.	.	.	T	0.60560	0.2278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56902	-0.7902	4	.	.	.	.	9.4507	0.38725	0.0712:0.0:0.7852:0.1436	.	.	.	.	N	1130	.	.	D	+	1	0	FRAS1	79622664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.880000	0.28159	2.810000	0.96702	0.585000	0.79938	GAC		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	152	0	0	0	1	0	6	152				
FRG1B	284802	broad.mit.edu	37	20	29623199	29623199	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:29623199C>A	ENST00000278882.3	+	3	391	c.11C>A	c.(10-12)cCt>cAt	p.P4H	FRG1B_ENST00000439954.2_Silent_p.T5T|FRG1B_ENST00000358464.4_Missense_Mutation_p.P4H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	4										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAGGGAACCTATATACATG	0.383																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(10-12)cCt>cAt																																						SO:0001583	missense	0							g.chr20:29623199C>A			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.11C>A	20.37:g.29623199C>A	ENSP00000278882:p.Pro4His					FRG1B_ENST00000358464.4_Missense_Mutation_p.P4H|FRG1B_ENST00000439954.2_Silent_p.T5T	p.P4H							3	391	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.11C>A		.	.	.	.	.	.	.	.	.	.	c	3.202	-0.163521	0.06502	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.93	0.947	0.19555	.	0.458595	0.23602	U	0.046431	T	0.19525	0.0469	.	.	.	0.21064	N	0.999794	.	.	.	.	.	.	T	0.14755	-1.0461	6	0.18710	T	0.47	.	4.3127	0.10977	0.0:0.6371:0.0:0.3629	.	.	.	.	H	4	.	ENSP00000278882:P4H	P	+	2	0	FRG1B	28236860	0.863000	0.29885	0.997000	0.53966	0.346000	0.29079	-0.153000	0.10144	0.374000	0.24650	0.423000	0.28283	CCT		0.383	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	357	1	0	0.00621372	1	0.00638958	10	357				
FRMD4A	55691	broad.mit.edu	37	10	13708199	13708199	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13708199G>A	ENST00000357447.2	-	18	1869	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	FRMD4A_ENST00000378503.1_Silent_p.L501L|FRMD4A_ENST00000358621.4_Silent_p.L486L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	501					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCATTCAGATACGAGGTT	0.493																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1501-1503)Ctg>Ttg		FERM domain containing 4A							129.0	128.0	128.0					10																	13708199		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708199G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1501C>T	10.37:g.13708199G>A						FRMD4A_ENST00000358621.4_Silent_p.L486L|FRMD4A_ENST00000378503.1_Silent_p.L501L	p.L501L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			18	1869	-			501					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1501C>T	CCDS7101.1																																																																																				0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		27	87	0	0	0	1	0	27	87				
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59.0	50.0	53.0					19																	17405126		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	19.37:g.17405126G>A	ENSP00000247706:p.Pro374Ser					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1359	-			374					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1120C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		4	78	0	0	0	1	0	4	78				
ALPK1	80216	broad.mit.edu	37	4	113360974	113360974	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:113360974G>A	ENST00000458497.1	+	14	3763	c.3484G>A	c.(3484-3486)Ggc>Agc	p.G1162S	ALPK1_ENST00000177648.9_Missense_Mutation_p.G1162S|ALPK1_ENST00000504176.2_Missense_Mutation_p.G1084S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1162	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTGGCCTATGGCCATTTTTC	0.328																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3484-3486)Ggc>Agc		alpha-kinase 1							53.0	54.0	54.0					4																	113360974		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113360974G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3484G>A	4.37:g.113360974G>A	ENSP00000398048:p.Gly1162Ser					ALPK1_ENST00000504176.2_Missense_Mutation_p.G1084S|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1162S	p.G1162S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3763	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1162			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3484G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916828	0.73098	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.04119	3.7;3.7;3.7	5.05	5.05	0.67936	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.057189	0.64402	D	0.000002	T	0.05227	0.0139	N	0.01424	-0.875	0.48236	D	0.999619	D;D;D	0.69078	0.991;0.997;0.983	P;D;P	0.68483	0.895;0.958;0.851	T	0.64863	-0.6307	10	0.17832	T	0.49	-21.1365	13.7936	0.63157	0.0767:0.0:0.9233:0.0	.	1084;1084;1162	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	1162;1162;1084	ENSP00000398048:G1162S;ENSP00000177648:G1162S;ENSP00000426044:G1084S	ENSP00000177648:G1162S	G	+	1	0	ALPK1	113580423	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	6.058000	0.71126	2.344000	0.79699	0.544000	0.68410	GGC		0.328	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		9	14	0	0	0	1	0	9	14				
SNIP1	79753	broad.mit.edu	37	1	38022591	38022591	+	5'Flank	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:38022591C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000296218.7_Missense_Mutation_p.S21F|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACTCTCGCCTCCGCCATGATT	0.637																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(61-63)tCc>tTc		dynein, axonemal, light intermediate chain 1							67.0	61.0	63.0					1																	38022591		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022591C>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022591C>T	Exception_encountered						p.S21F	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			1	72	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.62C>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812216	0.32053	.	.	ENSG00000163879	ENST00000296218	T	0.45276	0.9	5.07	-0.509	0.11977	.	0.985526	0.08258	N	0.973513	T	0.42154	0.1190	.	.	.	0.34660	D	0.722627	.	.	.	.	.	.	T	0.54463	-0.8290	7	0.59425	D	0.04	-0.4939	5.1608	0.15060	0.0:0.4733:0.2797:0.2469	.	.	.	.	F	21	ENSP00000296218:S21F	ENSP00000296218:S21F	S	+	2	0	DNALI1	37795178	0.401000	0.25303	0.096000	0.21009	0.039000	0.13416	0.195000	0.17155	0.012000	0.14892	0.491000	0.48974	TCC		0.637	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		6	58	0	0	0	1	0	6	58				
LGALS9B	284194	broad.mit.edu	37	17	20350011	20350011	+	IGR	SNP	G	G	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr17:20350011G>T	ENST00000423676.3	-	0	1713				NOS2P3_ENST00000458685.2_RNA			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TATCTTTGGTGCTGTATTTCC	0.557																																						ENST00000458685.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20350011G>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730		17.37:g.20350011G>T														0	2777	+								A6NLF8|A8K2J8	RNA	SNP	ENST00000423676.3	37																																																																																						0.557	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		6	15	1	0	0.0215528	1	0.0219556	6	15				
TMEM2	23670	broad.mit.edu	37	9	74360334	74360334	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:74360334C>T	ENST00000377044.4	-	4	1173	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	212	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCATACTTTCACCTTCATCT	0.483																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(634-636)Gaa>Aaa		transmembrane protein 2							141.0	128.0	132.0					9																	74360334		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360334C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.634G>A	9.37:g.74360334C>T	ENSP00000366243:p.Glu212Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1173	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	212			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.634G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229506	0.39399	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89617	-2.54;-2.54	6.03	5.12	0.69794	G8 domain (2);	0.288679	0.42682	D	0.000674	T	0.81394	0.4813	N	0.17474	0.49	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14023	0.01;0.004	T	0.74976	-0.3480	10	0.20046	T	0.44	.	17.4358	0.87552	0.0:0.8756:0.1244:0.0	.	212;212	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	212	ENSP00000366243:E212K;ENSP00000366266:E212K	ENSP00000366243:E212K	E	-	1	0	TMEM2	73550154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.542000	0.49330	0.655000	0.94253	GAA		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		31	72	0	0	0	1	0	31	72				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	114	0	0	0	1	0	6	114				
HLA-DQB2	3120	broad.mit.edu	37	6	32726772	32726772	+	Silent	SNP	G	G	A	rs200147031		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:32726772G>A	ENST00000437316.2	-	3	564	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HLA-DQB2_ENST00000435145.2_Silent_p.A167A|HLA-DQB2_ENST00000411527.1_Silent_p.A167A			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	171	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACACAACACCGGCTGTCTCCT	0.547																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(499-501)gcC>gcT		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726772G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.501C>T	6.37:g.32726772G>A						HLA-DQB2_ENST00000411527.1_Silent_p.A167A|HLA-DQB2_ENST00000437316.2_Silent_p.A167A	p.A167A			Q5SR06	Q5SR06_HUMAN			3	562	-			167					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.501C>T		.	.	.	.	.	.	.	.	.	.	G	1.934	-0.445141	0.04604	.	.	ENSG00000232629	ENST00000427449	.	.	.	3.43	-4.55	0.03441	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.28648	N	0.906781	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	.	4.9433	0.13976	0.3541:0.3084:0.3376:0.0	.	.	.	.	L	166	.	.	P	-	2	0	HLA-DQB2	32834750	0.000000	0.05858	0.601000	0.28877	0.295000	0.27426	-1.774000	0.01784	-0.898000	0.03906	-0.339000	0.08088	CCG		0.547	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	66	0	0	0	1	0	5	66				
SLCO1C1	53919	broad.mit.edu	37	12	20903757	20903757	+	Intron	SNP	T	T	C	rs10841611	byFrequency	TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:20903757T>C	ENST00000266509.2	+	14	2284				SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000381552.1_Silent_p.H649H|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.H649H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCGCATCTCATTGCTACAGCA	0.378													C|||	2391	0.477436	0.1952	0.5735	5008	,	,		16607	0.5913		0.504	False		,,,				2504	0.6462					ENST00000381552.1																			1	Substitution - coding silent(1)	p.H649H(1)	kidney(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1945-1947)caT>caC		solute carrier organic anion transporter family, member 1C1		C	,,,	1072,3334	722.3+/-409.3	137,798,1268	115.0	105.0	108.0		1593,,1947,	0.4	0.0	12	dbSNP_120	108	4722,3878	544.0+/-384.5	1285,2152,863	no	coding-synonymous,intron,coding-synonymous,intron	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	1422,2950,2131	CC,CT,TT		45.093,24.3305,44.5487	,,,	531/613,,649/731,	20903757	5794,7212	2203	4300	6503	SO:0001627	intron_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20903757T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1916+31T>C	12.37:g.20903757T>C						SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000540354.1_Intron	p.H649H			Q9NYB5	SO1C1_HUMAN			14	2315	+	Esophageal squamous(101;0.149)		0					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1947T>C	CCDS8683.1																																																																																				0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	55	0	0	0	1	0	4	55				
FSIP2	401024	broad.mit.edu	37	2	186672259	186672259	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:186672259G>C	ENST00000424728.1	+	17	18226	c.18226G>C	c.(18226-18228)Gat>Cat	p.D6076H	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6165H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6076										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTACAATCTGATGATGATGA	0.328																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18493-18495)Gat>Cat		fibrous sheath interacting protein 2							109.0	107.0	108.0					2																	186672259		1823	4073	5896	SO:0001583	missense	401024							g.chr2:186672259G>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18226G>C	2.37:g.186672259G>C	ENSP00000401306:p.Asp6076His					FSIP2_ENST00000424728.1_Missense_Mutation_p.D6076H	p.D6165H	NM_173651.2	NP_775922.2					17	18493	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18493G>C		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649539	0.29336	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45668	0.89;0.9	5.26	2.78	0.32641	.	0.543777	0.17945	N	0.156717	T	0.20210	0.0486	N	0.08118	0	0.24227	N	0.995417	.	.	.	.	.	.	T	0.10870	-1.0611	8	0.30078	T	0.28	.	4.9682	0.14102	0.7159:0.185:0.0991:0.0	.	.	.	.	H	6165;6076	ENSP00000344403:D6165H;ENSP00000401306:D6076H	ENSP00000344403:D6165H	D	+	1	0	FSIP2	186380504	0.254000	0.23992	0.993000	0.49108	0.362000	0.29581	1.496000	0.35638	1.026000	0.39733	-0.469000	0.05056	GAT		0.328	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		7	101	0	0	0	1	0	7	101				
ICAM1	3383	broad.mit.edu	37	19	10395858	10395858	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:10395858C>T	ENST00000264832.3	+	7	1819	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.L276L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	498					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CTGCAGGCCTCAGCACGTACC	0.547																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1492-1494)ctC>ctT		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						103.0	105.0	105.0					19																	10395858		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395858C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1494C>T	19.37:g.10395858C>T						ICAM1_ENST00000423829.2_Silent_p.L276L	p.L498L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		7	1819	+			498					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1494C>T	CCDS12231.1																																																																																				0.547	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	65	0	0	0	1	0	4	65				
KEL	3792	broad.mit.edu	37	7	142650897	142650897	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142650897C>G	ENST00000355265.2	-	9	1545	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	357					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGGCGAACCTCTGCTTTAGCA	0.547																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1069-1071)caG>caC		Kell blood group, metallo-endopeptidase							278.0	284.0	282.0					7																	142650897		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650897C>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1071G>C	7.37:g.142650897C>G	ENSP00000347409:p.Gln357His					KEL_ENST00000479768.2_5'UTR	p.Q357H	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1545	-	Melanoma(164;0.059)		357					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1071G>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262896	0.01445	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	5.73	1.51	0.23008	Peptidase M13 (1);	1.256980	0.05394	N	0.539505	T	0.39759	0.1090	N	0.00197	-1.87	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.25106	T	0.35	-3.2661	9.8383	0.40982	0.0:0.4413:0.4121:0.1466	.	357	P23276	KELL_HUMAN	H	357	ENSP00000347409:Q357H	ENSP00000347409:Q357H	Q	-	3	2	KEL	142361019	1.000000	0.71417	0.769000	0.31535	0.029000	0.11900	2.336000	0.43938	0.322000	0.23283	-0.290000	0.09829	CAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		22	345	0	0	0	1	0	22	345				
KLHDC8B	200942	broad.mit.edu	37	3	49210251	49210251	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49210251A>G	ENST00000332780.2	+	2	258	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	17						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCCCCCCATGCCCACTTG	0.632																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(49-51)Atg>Gtg		kelch domain containing 8B							56.0	53.0	54.0					3																	49210251		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49210251A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.49A>G	3.37:g.49210251A>G	ENSP00000327468:p.Met17Val					KLHDC8B_ENST00000476495.2_3'UTR	p.M17V	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	258	+			17						Missense_Mutation	SNP	ENST00000332780.2	37	c.49A>G	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770484	0.69992	.	.	ENSG00000185909	ENST00000332780	T	0.66995	-0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.84683	2.71	0.80722	D	1	B	0.33266	0.404	B	0.32533	0.147	T	0.75491	-0.3299	10	0.87932	D	0	-24.1474	14.4471	0.67359	1.0:0.0:0.0:0.0	.	17	Q8IXV7	KLD8B_HUMAN	V	17	ENSP00000327468:M17V	ENSP00000327468:M17V	M	+	1	0	KLHDC8B	49185255	0.990000	0.36364	1.000000	0.80357	0.939000	0.58152	2.992000	0.49417	2.019000	0.59389	0.459000	0.35465	ATG		0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		22	57	0	0	0	1	0	22	57				
TRIM51	84767	broad.mit.edu	37	11	55658652	55658652	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr11:55658652C>G	ENST00000449290.2	+	7	995	c.903C>G	c.(901-903)ttC>ttG	p.F301L	TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCATATCTTCCTGTGTGGAG	0.353																																						ENST00000449290.2																			0											c.(901-903)ttC>ttG		tripartite motif-containing 51							77.0	84.0	81.0					11																	55658652		2053	3911	5964	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658652C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.903C>G	11.37:g.55658652C>G	ENSP00000395086:p.Phe301Leu					TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	p.F301L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	995	+			301			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.903C>G		.	.	.	.	.	.	.	.	.	.	.	3.998	-0.003135	0.07773	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04502	3.61;3.61	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	L	0.46819	1.47	0.23649	N	0.997208	B	0.09022	0.002	B	0.08055	0.003	T	0.48958	-0.8988	9	0.07644	T	0.81	.	3.6826	0.08316	0.0:0.5087:0.4913:0.0	.	301	Q9BSJ1	SPRY5_HUMAN	L	301;158	ENSP00000395086:F301L;ENSP00000244891:F158L	ENSP00000244891:F158L	F	+	3	2	SPRYD5	55415228	0.713000	0.27926	0.343000	0.25615	0.417000	0.31264	0.022000	0.13511	0.159000	0.19401	0.162000	0.16502	TTC		0.353	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		16	102	0	0	0	1	0	16	102				
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	3'UTR	SNP	G	G	A	rs61886888	byFrequency	TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr11:64124622G>A	ENST00000356786.5	+	0	4531				RPS6KA4_ENST00000334205.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.G601R|RPS6KA4_ENST00000294261.4_5'Flank|RPS6KA4_ENST00000528057.1_5'Flank|CCDC88B_ENST00000301897.4_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667													G|||	333	0.0664936	0.0204	0.0807	5008	,	,		16123	0.002		0.1948	False		,,,				2504	0.0532					ENST00000359902.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1801-1803)Gga>Aga		coiled-coil domain containing 88B		G		66,1318		0,66,626	45.0	43.0	44.0			-2.2	0.0	11	dbSNP_129	44	569,2613		47,475,1069	no	utr-3	CCDC88B	NM_032251.5		47,541,1695	AA,AG,GG		17.8818,4.7688,13.9071			64124622	635,3931	692	1591	2283	SO:0001624	3_prime_UTR_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64124622G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.*56G>A	11.37:g.64124622G>A						CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_3'UTR	p.G601R			A6NC98	CC88B_HUMAN			14	1951	+			1424					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1801G>A	CCDS8072.2	201	0.09203296703296704	9	0.018292682926829267	37	0.10220994475138122	0	0.0	155	0.20448548812664907	N	11.85	1.762383	0.31228	0.047688	0.178818	ENSG00000168071	ENST00000359902	T	0.59083	0.29	4.15	-2.22	0.06952	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.15141	0.012	B	0.08055	0.003	T	0.13629	-1.0502	7	0.51188	T	0.08	.	0.5672	0.00689	0.203:0.1607:0.3095:0.3268	rs61886888	585	A6NC98-5	.	R	601	ENSP00000352974:G601R	ENSP00000352974:G601R	G	+	1	0	CCDC88B	63881198	0.370000	0.25047	0.000000	0.03702	0.144000	0.21451	1.621000	0.36986	-0.284000	0.09102	0.400000	0.26472	GGA		0.667	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	76	0	0	0	1	0	4	76				
EPSTI1	94240	broad.mit.edu	37	13	43462494	43462494	+	IGR	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr13:43462494G>A	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313640.7_Silent_p.V375V|EPSTI1_ENST00000313624.7_3'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418																																						ENST00000313640.7																			1	Substitution - coding silent(1)	p.V375V(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(1123-1125)gtC>gtT		epithelial stromal interaction 1 (breast)							77.0	73.0	75.0					13																	43462494		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462494G>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462494G>A						EPSTI1_ENST00000313624.7_3'UTR	p.V375V	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	13	1189	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	0					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1125C>T	CCDS9387.1																																																																																				0.418	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		30	54	0	0	0	1	0	30	54				
ARHGAP15	55843	broad.mit.edu	37	2	143986205	143986205	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:143986205A>G	ENST00000295095.6	+	5	519	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.K118E	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTTACAAAGAATCCAA	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(352-354)Aaa>Gaa		Rho GTPase activating protein 15							83.0	89.0	87.0					2																	143986205		2203	4296	6499	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143986205A>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.352A>G	2.37:g.143986205A>G	ENSP00000295095:p.Lys118Glu					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K118E	p.K118E			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	6	529	+			118			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.352A>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521547	0.85600	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T;T	0.78003	-1.14;-1.14	5.6	5.6	0.85130	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	M	0.90309	3.105	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91853	0.5493	10	0.87932	D	0	.	14.3603	0.66766	1.0:0.0:0.0:0.0	.	118;118	B4E0R3;Q53QZ3	.;RHG15_HUMAN	E	118	ENSP00000386560:K118E;ENSP00000295095:K118E	ENSP00000295095:K118E	K	+	1	0	ARHGAP15	143702675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.727000	0.68523	2.123000	0.65237	0.528000	0.53228	AAA		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		3	19	0	0	0	1	0	3	19				
CARD6	84674	broad.mit.edu	37	5	40854298	40854298	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854298C>G	ENST00000254691.5	+	3	3063	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	955					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTCAAACACTCCCAGCCTAAA	0.502																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2863-2865)tCc>tGc		caspase recruitment domain family, member 6							216.0	239.0	231.0					5																	40854298		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854298C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2864C>G	5.37:g.40854298C>G	ENSP00000254691:p.Ser955Cys					CARD6_ENST00000381677.3_Intron	p.S955C	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	3063	+			955					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2864C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553888	0.27739	.	.	ENSG00000132357	ENST00000254691	D	0.96200	-3.94	4.38	2.28	0.28536	.	0.936169	0.08889	N	0.878858	D	0.89121	0.6625	N	0.19112	0.55	0.09310	N	0.999995	P	0.40000	0.698	B	0.36418	0.224	T	0.81803	-0.0765	10	0.56958	D	0.05	-0.1986	4.9788	0.14155	0.0:0.5962:0.0:0.4038	.	955	Q9BX69	CARD6_HUMAN	C	955	ENSP00000254691:S955C	ENSP00000254691:S955C	S	+	2	0	CARD6	40890055	0.000000	0.05858	0.001000	0.08648	0.151000	0.21798	0.332000	0.19751	0.368000	0.24481	0.313000	0.20887	TCC		0.502	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			24	282	0	0	0	1	0	24	282				
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		7	103						7	103	---	---	---	---
C2orf73	129852	broad.mit.edu	37	2	54562140	54562141	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:54562140_54562141insA	ENST00000398634.2	+	2	255_256	c.213_214insA	c.(214-216)aaafs	p.K72fs	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	72										breast(2)	2						ACATAGATCCCAAAAAAGGGCC	0.332																																						ENST00000398634.2																			0				breast(2)	2						c.(211-216)ccaaaafs		chromosome 2 open reading frame 73																																				SO:0001589	frameshift_variant	129852							g.chr2:54562140_54562141insA	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.219dupA	2.37:g.54562146_54562146dupA	ENSP00000381631:p.Lys72fs					C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	p.PK71fs	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			2	255_256	+			71					A0AV79|A0AV81|Q8N7V4	Frame_Shift_Ins	INS	ENST00000398634.2	37	c.213_214insA	CCDS46285.1																																																																																				0.332	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		2	4						2	4	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114500277	114500277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:114500277delA	ENST00000245680.2	-	7	1155	c.742delT	c.(742-744)tgcfs	p.C248fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	248					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAG	0.343																																						ENST00000245680.2																			3	Deletion - Frameshift(2)|Unknown(1)	p.C248fs*22(2)|p.?(1)	ovary(2)|skin(1)	endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(742-744)gcfs		solute carrier family 35, member F5							105.0	103.0	104.0					2																	114500277		2203	4300	6503	SO:0001589	frameshift_variant	80255				transport	integral to membrane		g.chr2:114500277delA	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.742delT	2.37:g.114500277delA	ENSP00000245680:p.Cys248fs					SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs	p.C248fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			7	1155	-			248					Q9H6P8|Q9H7D8	Frame_Shift_Del	DEL	ENST00000245680.2	37	c.742delT	CCDS2119.1																																																																																				0.343	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		7	59						7	59	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			4	3						4	3	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710854	140710855	+	Frame_Shift_Ins	INS	-	-	AGAGAAG	rs370993897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:140710854_140710855insAGAGAAG	ENST00000517417.1	+	1	603_604	c.603_604insAGAGAAG	c.(604-606)agafs	p.-204fs	PCDHGA1_ENST00000378105.3_Frame_Shift_Ins_p.-204fs|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCCTTAGACAGAGAAGAAGA	0.535																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(601-606)gagagafs																																						SO:0001589	frameshift_variant	0							g.chr5:140710854_140710855insAGAGAAG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.604_610dupAGAGAAG	5.37:g.140710855_140710861dupAGAGAAG	ENSP00000431083:p.Glu204fs					PCDHGA1_ENST00000378105.3_Frame_Shift_Ins_p.R202fs	p.R202fs	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	603_604	+								Q2M273|Q9Y5D6	Frame_Shift_Ins	INS	ENST00000517417.1	37	c.603_604insAGAGAAG	CCDS54922.1																																																																																				0.535	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		20	70						20	70	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43970504	43970506	+	In_Frame_Del	DEL	GCG	GCG	-	rs571541469		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:43970504_43970506delGCG	ENST00000336600.5	+	4	390_392	c.370_372delGCG	c.(370-372)gcgdel	p.A132del	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000442114.2_In_Frame_Del_p.A112del|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	132	Ala-rich.			A -> AA (in Ref. 3; AAH32706). {ECO:0000305}.						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcgg	0.773																																						ENST00000336600.5																			0				central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6						c.(370-372)del		chromosome 6 open reading frame 223																																				SO:0001651	inframe_deletion	221416							g.chr6:43970504_43970506delGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.370_372delGCG	6.37:g.43970513_43970515delGCG	ENSP00000426159:p.Ala132del					C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR	p.A132del	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	390_392	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		132	A -> AA (in Ref. 2; AAH32706).		Ala-rich.		E9PB59|Q8N575	In_Frame_Del	DEL	ENST00000336600.5	37	c.370_372delGCG	CCDS34459.1																																																																																				0.773	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		4	5						4	5	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	34979763	34979763	+	Splice_Site	DEL	A	A	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:34979763delA	ENST00000310974.4	-	19	1790		c.e19+1		MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ttttttttttACCTGGTTTAG	0.328																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.e19+1		dpy-19-like 1 (C. elegans)							27.0	23.0	24.0					7																	34979763		1765	4013	5778	SO:0001630	splice_region_variant	23333					integral to membrane		g.chr7:34979763delA	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1645+1T>-	7.37:g.34979763delA								NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			19	1790	-								O94954|Q4G151	Splice_Site	DEL	ENST00000310974.4	37		CCDS43567.1																																																																																				0.328	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		Intron	2	4						2	4	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963659	112963662	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:112963659_112963662delCAGA	ENST00000400613.4	-	2	895_898	c.286_289delTCTG	c.(286-291)tctgagfs	p.SE96fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	96								p.E76Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCCACCTCAGAATCTGCCTCT	0.554																																						ENST00000400613.4																			1	Substitution - Missense(1)	p.E76Q(1)	NS(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(286-291)agfs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963659_112963662delCAGA	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.286_289delTCTG	9.37:g.112963659_112963662delCAGA	ENSP00000383456:p.Ser96fs					C9orf152_ENST00000473442.1_Intron	p.SE96fs	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	895_898	-			96					A8MWT6	Frame_Shift_Del	DEL	ENST00000400613.4	37	c.286_289delTCTG	CCDS35102.2																																																																																				0.554	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		29	54						29	54	---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67233140	67233140	+	IGR	DEL	C	C	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:67233140delC	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Frame_Shift_Del_p.P24fs|ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGAGGACCTCCTCGTCCCCA	0.701																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(70-72)ctfs		engulfment and cell motility 3							21.0	29.0	27.0					16																	67233140		2073	4194	6267	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233140delC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233140delC						ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	p.P24fs	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	127	+		Ovarian(137;0.0563)	0					A6NGR8|B5BU56|Q12991|Q15328	Frame_Shift_Del	DEL	ENST00000379378.3	37	c.70delC	CCDS32464.1																																																																																				0.701	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	17						14	17	---	---	---	---
