#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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		10	71	0	0	0	1	0	10	71				
OTOL1	131149	broad.mit.edu	37	3	161217017	161217017	+	Silent	SNP	C	C	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:161217017C>A	ENST00000327928.4	+	2	423	c.423C>A	c.(421-423)ccC>ccA	p.P141P		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	141	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGTTGGGCCCCAAGGCCCTA	0.433																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(421-423)ccC>ccA		otolin 1							41.0	44.0	43.0					3																	161217017		1827	4076	5903	SO:0001819	synonymous_variant	131149					collagen		g.chr3:161217017C>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.423C>A	3.37:g.161217017C>A							p.P141P	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			2	423	+			141			Collagen-like 1.			Silent	SNP	ENST00000327928.4	37	c.423C>A	CCDS46948.1																																																																																				0.433	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		3	25	1	0	0.004672	1	0.00495804	3	25				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	87	0	0	0	1	0	5	87				
MUC5B	727897	broad.mit.edu	37	11	1264220	1264220	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:1264220C>T	ENST00000529681.1	+	31	6168	c.6110C>T	c.(6109-6111)gCc>gTc	p.A2037V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A2040V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2037	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTCTGTGGCCACCCCCTCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6118-6120)gCc>gTc		mucin 5B, oligomeric mucus/gel-forming							110.0	140.0	130.0					11																	1264220		2073	4190	6263	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264220C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6110C>T	11.37:g.1264220C>T	ENSP00000436812:p.Ala2037Val					MUC5B_ENST00000529681.1_Missense_Mutation_p.A2037V|RP11-532E4.2_ENST00000532061.2_RNA	p.A2040V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6177	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2037			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6119C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685301	0.14973	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.54	2.46	-1.46	0.08800	.	.	.	.	.	T	0.13970	0.0338	L	0.61218	1.895	0.09310	N	1	B;B	0.30068	0.267;0.164	B;B	0.25291	0.059;0.041	T	0.27773	-1.0064	9	0.87932	D	0	.	2.1429	0.03779	0.2407:0.4699:0.1696:0.1197	.	2730;2040	A7Y9J9;E9PBJ0	.;.	V	2037;2040;2038;2107	ENSP00000436812:A2037V;ENSP00000415793:A2040V	ENSP00000343037:A2038V	A	+	2	0	MUC5B	1220796	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.396000	0.07278	-0.582000	0.05929	-0.704000	0.03662	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	118	0	0	0	1	0	5	118				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	62	1	0	0.150653	1	0.150653	4	62				
LAMA4	3910	broad.mit.edu	37	6	112466059	112466059	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:112466059G>T	ENST00000230538.7	-	19	2827	c.2430C>A	c.(2428-2430)aaC>aaA	p.N810K	LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	810	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGCAGAAACGTTGCTTGCAG	0.478																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2428-2430)aaC>aaA		laminin, alpha 4							88.0	84.0	85.0					6																	112466059		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112466059G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2430C>A	6.37:g.112466059G>T	ENSP00000230538:p.Asn810Lys					LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K	p.N810K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	19	2827	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	810			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2430C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080565	0.76528	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.35	-4.45	0.03546	Laminin II (1);	0.085573	0.85682	D	0.000000	T	0.45856	0.1363	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58194	-0.7679	10	0.66056	D	0.02	.	12.4777	0.55823	0.6552:0.0:0.3448:0.0	.	810;803	Q16363;Q16363-2	LAMA4_HUMAN;.	K	810;803;803;803	ENSP00000230538:N810K;ENSP00000429488:N803K;ENSP00000374114:N803K;ENSP00000416470:N803K	ENSP00000230538:N810K	N	-	3	2	LAMA4	112572752	0.008000	0.16893	0.817000	0.32601	0.935000	0.57460	-0.930000	0.03972	-0.951000	0.03654	-0.302000	0.09304	AAC		0.478	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	46	1	0	4.26978e-12	1	4.62559e-12	26	46				
B3GNT1	11041	broad.mit.edu	37	11	66114749	66114749	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:66114749T>C	ENST00000311181.4	-	1	414	c.268A>G	c.(268-270)Atg>Gtg	p.M90V	BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	90					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTGGGGTCCATGGTGGTCTTC	0.682																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(268-270)Atg>Gtg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							32.0	26.0	28.0					11																	66114749		2175	4273	6448	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114749T>C	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.268A>G	11.37:g.66114749T>C	ENSP00000309096:p.Met90Val						p.M90V	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	414	-			90					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.268A>G	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.274852	0.01410	.	.	ENSG00000174684	ENST00000311181	T	0.55413	0.52	5.18	-0.0723	0.13740	.	0.336744	0.32563	N	0.005925	T	0.21103	0.0508	N	0.08118	0	0.26475	N	0.975214	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	10	0.15952	T	0.53	-31.9784	1.2661	0.02011	0.259:0.0874:0.2777:0.376	.	90	O43505	B3GN1_HUMAN	V	90	ENSP00000309096:M90V	ENSP00000309096:M90V	M	-	1	0	B3GNT1	65871325	0.841000	0.29509	1.000000	0.80357	0.124000	0.20399	0.994000	0.29693	0.357000	0.24183	-0.656000	0.03901	ATG		0.682	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		2	1	0	0	0	1	0	2	1				
LRFN4	78999	broad.mit.edu	37	11	66627470	66627470	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:66627470A>C	ENST00000309602.4	+	2	1955	c.1712A>C	c.(1711-1713)cAc>cCc	p.H571P	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	571						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCCAAGGCCCAcccgccgcgg	0.731																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1711-1713)cAc>cCc		leucine rich repeat and fibronectin type III domain containing 4																																				SO:0001583	missense	78999					integral to membrane		g.chr11:66627470A>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1712A>C	11.37:g.66627470A>C	ENSP00000312535:p.His571Pro					PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	p.H571P	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	1955	+			571					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1712A>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	a	7.754	0.703860	0.15172	.	.	ENSG00000173621	ENST00000309602	T	0.48201	0.82	4.72	4.72	0.59763	.	0.000000	0.44483	D	0.000446	T	0.33235	0.0856	N	0.08118	0	0.80722	D	1	P	0.50819	0.939	P	0.48524	0.58	T	0.14254	-1.0479	10	0.35671	T	0.21	.	10.5868	0.45288	1.0:0.0:0.0:0.0	.	571	Q6PJG9	LRFN4_HUMAN	P	571	ENSP00000312535:H571P	ENSP00000312535:H571P	H	+	2	0	LRFN4	66384046	0.016000	0.18221	0.986000	0.45419	0.306000	0.27790	1.810000	0.38932	1.767000	0.52121	0.330000	0.21533	CAC		0.731	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		6	10	0	0	0	1	0	6	10				
PRKCSH	5589	broad.mit.edu	37	19	11557156	11557156	+	Silent	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:11557156G>A	ENST00000589838.1	+	8	753	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000252455.2_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A|PRKCSH_ENST00000591462.1_Silent_p.A251A			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	251	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TGTCAGAAGCGGAAGCTCAGG	0.647																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(751-753)gcG>gcA		protein kinase C substrate 80K-H							78.0	65.0	69.0					19																	11557156		2203	4299	6502	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11557156G>A		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.753G>A	19.37:g.11557156G>A						PRKCSH_ENST00000591462.1_Silent_p.A251A|PRKCSH_ENST00000589838.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A	p.A251A	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			9	1089	+			251			EF-hand 2.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.753G>A	CCDS32911.1																																																																																				0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	19	0	0	0	1	0	3	19				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	76	0	0	0	1	0	4	76				
CSMD1	64478	broad.mit.edu	37	8	3141702	3141702	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:3141702A>T	ENST00000520002.1	-	27	4675	c.4120T>A	c.(4120-4122)Ttc>Atc	p.F1374I	CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1374	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGATGAAGAAGTCGCTG	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(4120-4122)Ttc>Atc		CUB and Sushi multiple domains 1							75.0	91.0	86.0					8																	3141702		2129	4258	6387	SO:0001583	missense	64478					integral to membrane		g.chr8:3141702A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4120T>A	8.37:g.3141702A>T	ENSP00000430733:p.Phe1374Ile					CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000520002.1_Missense_Mutation_p.F1374I	p.F1374I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4675	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1374			CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4120T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.393323|5.393323	0.96009|0.96009	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28|.	5.12|5.12	5.12|5.12	0.69794|0.69794	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.41236|0.41236	1.265|1.265	0.58432|0.58432	D|D	0.999998|0.999998	D;D;P|.	0.71674|.	0.998;0.975;0.564|.	D;P;B|.	0.79784|.	0.993;0.908;0.391|.	T|T	0.56613|0.56613	-0.7950|-0.7950	10|5	0.59425|.	D|.	0.04|.	.|.	14.9361|14.9361	0.70957|0.70957	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1374;1374;1374|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	I|H	1374;1374;1236;1373;1373;1373|853	ENSP00000383047:F1374I;ENSP00000430733:F1374I;ENSP00000441462:F1373I;ENSP00000446243:F1373I;ENSP00000441675:F1373I|.	ENSP00000320445:F1236I|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	3129109|3129109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.117000|9.117000	0.94347|0.94347	1.925000|1.925000	0.55765|0.55765	0.460000|0.460000	0.39030|0.39030	TTC|CTT		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	4	0	0	0	1	0	3	4				
UNC5D	137970	broad.mit.edu	37	8	35425751	35425751	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:35425751G>A	ENST00000404895.2	+	3	786	c.458G>A	c.(457-459)cGc>cAc	p.R153H	UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000287272.2_Missense_Mutation_p.R153H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	153	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTCTGTGCGCATAGCCTGT	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(457-459)cGc>cAc		unc-5 homolog D (C. elegans)							120.0	118.0	118.0					8																	35425751		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425751G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.458G>A	8.37:g.35425751G>A	ENSP00000385143:p.Arg153His					UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000404895.2_Missense_Mutation_p.R153H	p.R153H			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	478	+			153			Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.458G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	33	5.237370	0.95240	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.22	5.22	0.72569	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.66110	-0.6005	10	0.87932	D	0	-17.4187	18.7938	0.91985	0.0:0.0:1.0:0.0	.	148;153	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	H	153;153;153;153;148	ENSP00000385143:R153H;ENSP00000392739:R153H;ENSP00000287272:R153H;ENSP00000412652:R153H;ENSP00000394303:R148H	ENSP00000287272:R153H	R	+	2	0	UNC5D	35545293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.830000	0.99415	2.443000	0.82685	0.655000	0.94253	CGC		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			4	102	0	0	0	1	0	4	102				
ATXN7L1	222255	broad.mit.edu	37	7	105516315	105516315	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:105516315C>T	ENST00000419735.3	-	2	238	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K|ATXN7L1_ENST00000478915.1_Intron	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	65										endometrium(1)|large_intestine(4)|lung(5)	10						CCAGCCTCTTCTAAATCTACA	0.413																																						ENST00000419735.3																			0				endometrium(1)|large_intestine(4)|lung(5)	10						c.(193-195)Gaa>Aaa		ataxin 7-like 1							249.0	243.0	245.0					7																	105516315		2203	4300	6503	SO:0001583	missense	222255							g.chr7:105516315C>T	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.193G>A	7.37:g.105516315C>T	ENSP00000410759:p.Glu65Lys					ATXN7L1_ENST00000478915.1_Intron|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K	p.E65K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN			2	238	-			65					A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	c.193G>A	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600579	0.87055	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T;T	0.33438	1.41;1.41	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000014	T	0.53222	0.1783	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.50329	-0.8841	10	0.72032	D	0.01	.	20.1006	0.97874	0.0:1.0:0.0:0.0	.	65;65	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	K	65	ENSP00000410759:E65K;ENSP00000326344:E65K	ENSP00000326344:E65K	E	-	1	0	ATXN7L1	105303551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.103000	0.71492	2.757000	0.94681	0.561000	0.74099	GAA		0.413	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			98	145	0	0	0	1	0	98	145				
ADAR	103	broad.mit.edu	37	1	154600394	154600394	+	Silent	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:154600394T>C	ENST00000292205.5	-	1	80	c.81A>G	c.(79-81)ggA>ggG	p.G27G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCCGCGACCCTCCCCCCACCC	0.652																																						ENST00000292205.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(79-81)ggA>ggG		adenosine deaminase, RNA-specific							34.0	38.0	37.0					1																	154600394		876	1991	2867	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154600394T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000292205.5:c.81A>G	1.37:g.154600394T>C						ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	p.G27G	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	80	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		0					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000292205.5	37	c.81A>G																																																																																					0.652	ADAR-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001111		6	30	0	0	0	1	0	6	30				
DTX3L	151636	broad.mit.edu	37	3	122288340	122288340	+	Silent	SNP	C	C	A	rs148416505		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:122288340C>A	ENST00000296161.4	+	3	1593	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	468					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACATCAGACCAAGTTTGCTG	0.398																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1402-1404)acC>acA		deltex 3-like (Drosophila)							133.0	126.0	128.0					3																	122288340		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122288340C>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1404C>A	3.37:g.122288340C>A						DTX3L_ENST00000383661.3_Intron	p.T468T	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1593	+			468					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1404C>A	CCDS3015.1																																																																																				0.398	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		4	135	1	0	0.150653	1	0.150653	4	135				
ENTPD7	57089	broad.mit.edu	37	10	101464274	101464274	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:101464274A>G	ENST00000370489.4	+	13	1827	c.1649A>G	c.(1648-1650)aAc>aGc	p.N550S	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	550						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTTGTATACAACCACTATCTC	0.493																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1648-1650)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 7							204.0	166.0	179.0					10																	101464274		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464274A>G	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1649A>G	10.37:g.101464274A>G	ENSP00000359520:p.Asn550Ser					CUTC_ENST00000493385.1_Intron	p.N550S	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1827	+		Colorectal(252;0.234)	550					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1649A>G	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305981	0.81247	.	.	ENSG00000198018	ENST00000370489	T	0.14640	2.49	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	T	0.11717	-1.0576	10	0.07482	T	0.82	-12.6379	14.8634	0.70397	1.0:0.0:0.0:0.0	.	550	Q9NQZ7	ENTP7_HUMAN	S	550	ENSP00000359520:N550S	ENSP00000359520:N550S	N	+	2	0	ENTPD7	101454264	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	2.117000	0.64856	0.459000	0.35465	AAC		0.493	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		8	91	0	0	0	1	0	8	91				
TONSL	4796	broad.mit.edu	37	8	145664079	145664079	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:145664079T>A	ENST00000409379.3	-	12	1549	c.1520A>T	c.(1519-1521)gAc>gTc	p.D507V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	507	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAGCTCCTCGTCCTCCTCCAG	0.692																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1519-1521)gAc>gTc		tonsoku-like, DNA repair protein							40.0	37.0	38.0					8																	145664079		2202	4300	6502	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145664079T>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1520A>T	8.37:g.145664079T>A	ENSP00000386239:p.Asp507Val					AC084125.4_ENST00000442850.1_RNA	p.D507V	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			12	1549	-			507			Glu-rich.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1520A>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	T	9.054	0.992752	0.18966	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.48522	0.81	4.48	3.32	0.38043	.	1.301390	0.05227	N	0.509585	T	0.31263	0.0791	N	0.14661	0.345	0.53688	D	0.999975	P	0.49961	0.93	B	0.42319	0.383	T	0.21348	-1.0248	10	0.11485	T	0.65	-0.5923	8.0961	0.30829	0.0:0.098:0.0:0.902	.	507	Q96HA7	TONSL_HUMAN	V	507	ENSP00000386239:D507V	ENSP00000386239:D507V	D	-	2	0	TONSL	145634887	0.992000	0.36948	0.111000	0.21465	0.288000	0.27193	2.464000	0.45067	0.762000	0.33152	0.402000	0.26972	GAC		0.692	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		6	17	0	0	0	1	0	6	17				
SLC41A1	254428	broad.mit.edu	37	1	205764534	205764534	+	Missense_Mutation	SNP	C	C	T	rs371237657		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:205764534C>T	ENST00000367137.3	-	9	2159	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	382					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGTTCTCTCCGGGCATTCC	0.607																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1144-1146)gGa>gAa		solute carrier family 41 (magnesium transporter), member 1		C	GLU/GLY	0,4406		0,0,2203	82.0	68.0	72.0		1145	5.3	1.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC41A1	NM_173854.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	382/514	205764534	1,13005	2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205764534C>T	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1145G>A	1.37:g.205764534C>T	ENSP00000356105:p.Gly382Glu					SLC41A1_ENST00000468057.1_5'UTR	p.G382E	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		9	2159	-	Breast(84;0.0799)		382					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.1145G>A	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158439	0.57368	0.0	1.16E-4	ENSG00000133065	ENST00000367137	T	0.28895	1.59	5.35	5.35	0.76521	MgtE magnesium transporter, integral membrane (1);	0.153283	0.64402	D	0.000013	T	0.58133	0.2101	M	0.77103	2.36	0.54753	D	0.999982	D	0.67145	0.996	D	0.76575	0.988	T	0.54938	-0.8218	10	0.38643	T	0.18	-16.2419	18.8367	0.92165	0.0:1.0:0.0:0.0	.	382	Q8IVJ1	S41A1_HUMAN	E	382	ENSP00000356105:G382E	ENSP00000356105:G382E	G	-	2	0	SLC41A1	204031157	0.999000	0.42202	0.996000	0.52242	0.009000	0.06853	5.706000	0.68362	2.776000	0.95493	0.655000	0.94253	GGA		0.607	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			15	24	0	0	0	1	0	15	24				
PCDH19	57526	broad.mit.edu	37	X	99657627	99657627	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chrX:99657627G>C	ENST00000373034.4	-	3	4186	c.2511C>G	c.(2509-2511)aaC>aaG	p.N837K	PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	837					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTATTCTGGTTCTCCACAT	0.567																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2509-2511)aaC>aaG		protocadherin 19							125.0	117.0	119.0					X																	99657627		2050	4177	6227	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657627G>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2511C>G	X.37:g.99657627G>C	ENSP00000362125:p.Asn837Lys					PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K	p.N837K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			3	4186	-			837					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2511C>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726722	0.30593	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51574	0.7;0.73;0.7	5.64	4.78	0.61160	.	0.093683	0.85682	D	0.000000	T	0.31199	0.0789	N	0.22421	0.69	0.53688	D	0.999977	P;B;B	0.35433	0.501;0.043;0.025	B;B;B	0.30401	0.115;0.076;0.035	T	0.12656	-1.0539	10	0.51188	T	0.08	.	10.1203	0.42616	0.1564:0.0:0.8436:0.0	.	837;790;790	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	790;837;790	ENSP00000400327:N790K;ENSP00000362125:N837K;ENSP00000255531:N790K	ENSP00000255531:N790K	N	-	3	2	PCDH19	99544283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.769000	0.55303	1.150000	0.42419	0.594000	0.82650	AAC		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		22	3	0	0	0	1	0	22	3				
TARS	6897	broad.mit.edu	37	5	33456283	33456283	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr5:33456283G>C	ENST00000265112.3	+	8	1099	c.788G>C	c.(787-789)gGt>gCt	p.G263A	TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A|TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	263					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTCTGCCGGGGTCCTCATGTT	0.328																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(787-789)gGt>gCt		threonyl-tRNA synthetase	L-Threonine(DB00156)						102.0	102.0	102.0					5																	33456283		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33456283G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.788G>C	5.37:g.33456283G>C	ENSP00000265112:p.Gly263Ala					TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A	p.G263A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			8	1099	+			263					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.788G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081432	0.94050	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.64618	-0.09;-0.09;-0.11	5.94	5.94	0.96194	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	H	0.99659	4.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.93763	0.7068	10	0.87932	D	0	13.3608	20.4127	0.99019	0.0:0.0:1.0:0.0	.	142;296;159;263	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	A	263;263;159;296;142	ENSP00000424387:G263A;ENSP00000265112:G263A;ENSP00000387710:G296A	ENSP00000265112:G263A	G	+	2	0	TARS	33492040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.835000	0.99442	2.829000	0.97493	0.579000	0.79373	GGT		0.328	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		11	16	0	0	0	1	0	11	16				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		68	83	0	0	0	1	0	68	83				
DFNA5	1687	broad.mit.edu	37	7	24745946	24745946	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:24745946T>C	ENST00000342947.3	-	8	1465	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	DFNA5_ENST00000545231.1_Missense_Mutation_p.E183G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	347					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGCTTCAGCTCCCCCAGCAC	0.662																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(547-549)gAg>gGg		deafness, autosomal dominant 5							22.0	24.0	24.0					7																	24745946		2202	4299	6501	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24745946T>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1040A>G	7.37:g.24745946T>C	ENSP00000339587:p.Glu347Gly					DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000342947.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G	p.E183G			O60443	DFNA5_HUMAN			10	1698	-			347					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.548A>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587505	0.66105	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.14	2.78	0.32641	.	0.606781	0.17825	N	0.160736	T	0.38427	0.1040	M	0.75447	2.3	0.38643	D	0.95164	P	0.43231	0.801	P	0.51550	0.673	T	0.24225	-1.0166	10	0.56958	D	0.05	-14.6402	7.3907	0.26909	0.0:0.1747:0.0:0.8253	.	347	O60443	DFNA5_HUMAN	G	347;183;183;183;347	ENSP00000339587:E347G;ENSP00000401332:E183G;ENSP00000442661:E183G;ENSP00000387119:E183G;ENSP00000386670:E347G	ENSP00000339587:E347G	E	-	2	0	DFNA5	24712471	0.759000	0.28416	0.613000	0.29037	0.059000	0.15707	1.370000	0.34238	0.431000	0.26258	0.460000	0.39030	GAG		0.662	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		6	22	0	0	0	1	0	6	22				
GTF2H1	2965	broad.mit.edu	37	11	18354672	18354672	+	Silent	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:18354672A>G	ENST00000265963.4	+	2	211	c.51A>G	c.(49-51)caA>caG	p.Q17Q	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Silent_p.Q17Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	17					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAGTGCGTCAAAAGAAGCAGG	0.393								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(49-51)caA>caG	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							105.0	100.0	102.0					11																	18354672		2199	4293	6492	SO:0001819	synonymous_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18354672A>G		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.51A>G	11.37:g.18354672A>G						GTF2H1_ENST00000453096.2_Silent_p.Q17Q|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR	p.Q17Q	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN			2	211	+			17					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Silent	SNP	ENST00000265963.4	37	c.51A>G	CCDS7838.1																																																																																				0.393	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		12	103	0	0	0	1	0	12	103				
GSTO2	119391	broad.mit.edu	37	10	106058999	106058999	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:106058999A>G	ENST00000338595.2	+	7	1009	c.689A>G	c.(688-690)tAt>tGt	p.Y230C	GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000450629.2_Missense_Mutation_p.Y196C|GSTO2_ENST00000369707.2_Missense_Mutation_p.Y202C	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	230	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TTGAATCTCTATTTTCAGAAC	0.517																																						ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(586-588)tAt>tGt		glutathione S-transferase omega 2	Glutathione(DB00143)						118.0	112.0	114.0					10																	106058999		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106058999A>G	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.689A>G	10.37:g.106058999A>G	ENSP00000345023:p.Tyr230Cys					GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.Y202C|GSTO2_ENST00000338595.2_Missense_Mutation_p.Y230C	p.Y196C	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	6	1215	+		Colorectal(252;0.178)	230			GST C-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.587A>G	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201785	0.58234	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707	T;T;T	0.15256	2.44;2.44;2.44	5.9	5.9	0.94986	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.052613	0.85682	D	0.000000	T	0.43765	0.1262	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.971;0.997	T	0.40831	-0.9542	10	0.56958	D	0.05	-22.0615	12.7236	0.57156	1.0:0.0:0.0:0.0	.	196;230	B4DJW6;Q9H4Y5	.;GSTO2_HUMAN	C	230;230;196;202	ENSP00000345023:Y230C;ENSP00000390986:Y196C;ENSP00000358721:Y202C	ENSP00000345023:Y230C	Y	+	2	0	GSTO2	106048989	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	4.667000	0.61561	2.248000	0.74166	0.460000	0.39030	TAT		0.517	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		28	79	0	0	0	1	0	28	79				
CASP14	23581	broad.mit.edu	37	19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	rs546136139		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18249	0.0		0.001	False		,,,				2504	0.0					ENST00000427043.3																			1	Substitution - Nonsense(1)	p.R179*(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)Cga>Tga		caspase 14, apoptosis-related cysteine peptidase							108.0	93.0	98.0					19																	15166255		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166255C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.535C>T	19.37:g.15166255C>T	ENSP00000393417:p.Arg179*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	843	+			179					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.535C>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557660	0.65425	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.5	2.0	0.26442	.	0.224065	0.30940	N	0.008578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8118	0.34971	0.4818:0.5181:0.0:0.0	.	.	.	.	X	179	.	ENSP00000221740:R179X	R	+	1	2	CASP14	15027255	0.998000	0.40836	0.999000	0.59377	0.061000	0.15899	1.156000	0.31712	0.681000	0.31386	-0.521000	0.04368	CGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		29	53	0	0	0	1	0	29	53				
ANGEL2	90806	broad.mit.edu	37	1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)Cgg>Tgg		angel homolog 2 (Drosophila)							93.0	99.0	97.0					1																	213178773		2189	4299	6488	SO:0001583	missense	90806							g.chr1:213178773G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.736C>T	1.37:g.213178773G>A	ENSP00000355929:p.Arg246Trp					ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W	p.R246W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	890	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.736C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682310	0.68042	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95724	-3.79;-3.6;-3.6;-3.79;-3.6	5.45	2.42	0.29668	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.97798	0.9277	M	0.93420	3.415	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96627	0.9464	10	0.59425	D	0.04	-10.8417	8.9311	0.35670	0.072:0.0:0.4718:0.4562	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	W	246;77;77;120;77	ENSP00000355929:R246W;ENSP00000353696:R77W;ENSP00000443193:R77W;ENSP00000446124:R120W;ENSP00000438141:R77W	ENSP00000353696:R77W	R	-	1	2	ANGEL2	211245396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.237000	0.32695	0.297000	0.22615	0.650000	0.86243	CGG		0.368	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		5	101	0	0	0	1	0	5	101				
OR8H2	390151	broad.mit.edu	37	11	55872565	55872565	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:55872565T>A	ENST00000313503.1	+	1	47	c.47T>A	c.(46-48)aTg>aAg	p.M16K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTCATCCTTATGGGACTGACA	0.433										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(46-48)aTg>aAg		olfactory receptor, family 8, subfamily H, member 2							230.0	220.0	223.0					11																	55872565		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872565T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.47T>A	11.37:g.55872565T>A	ENSP00000323982:p.Met16Lys	HNSCC(53;0.14)					p.M16K	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	47	+	Esophageal squamous(21;0.00693)		16					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.47T>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	1.762	-0.486464	0.04352	.	.	ENSG00000181767	ENST00000313503	T	0.00444	7.4	3.74	-1.75	0.08031	.	0.791526	0.11667	N	0.541248	T	0.00328	0.0010	L	0.49640	1.575	0.09310	N	0.999992	B	0.20671	0.047	B	0.24006	0.05	T	0.31223	-0.9951	10	0.49607	T	0.09	.	6.2642	0.20917	0.0:0.1771:0.1256:0.6973	.	16	Q8N162	OR8H2_HUMAN	K	16	ENSP00000323982:M16K	ENSP00000323982:M16K	M	+	2	0	OR8H2	55629141	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	0.070000	0.14573	-0.550000	0.06183	-1.592000	0.00843	ATG		0.433	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		34	235	0	0	0	1	0	34	235				
TEKT4	150483	broad.mit.edu	37	2	95537590	95537590	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:95537590G>A	ENST00000295201.4	+	1	403	c.266G>A	c.(265-267)cGc>cAc	p.R89H	TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	89					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACTCCACGCGCACAGTGGGC	0.692																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(265-267)cGc>cAc		tektin 4							15.0	15.0	15.0					2																	95537590		2191	4284	6475	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537590G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.266G>A	2.37:g.95537590G>A	ENSP00000295201:p.Arg89His					TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA	p.R89H	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	403	+			89						Missense_Mutation	SNP	ENST00000295201.4	37	c.266G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.508783	0.27036	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02709	4.19;4.19	1.97	-0.0484	0.13839	.	0.721060	0.12351	N	0.476521	T	0.07954	0.0199	M	0.79123	2.44	0.09310	N	1	D	0.58970	0.984	P	0.58454	0.839	T	0.25916	-1.0118	10	0.31617	T	0.26	-10.0826	2.47	0.04562	0.3207:0.2858:0.3935:0.0	.	89	Q8WW24	TEKT4_HUMAN	H	89	ENSP00000295201:R89H;ENSP00000407596:R89H	ENSP00000295201:R89H	R	+	2	0	TEKT4	94901317	0.000000	0.05858	0.191000	0.23289	0.056000	0.15407	0.014000	0.13333	0.165000	0.19558	-0.231000	0.12243	CGC		0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		3	20	0	0	0	1	0	3	20				
TGM6	343641	broad.mit.edu	37	20	2375994	2375994	+	Silent	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:2375994C>T	ENST00000202625.2	+	3	397	c.336C>T	c.(334-336)taC>taT	p.Y112Y	TGM6_ENST00000381423.1_Silent_p.Y112Y|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	112					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTGGCCGCTACCTGCTGAGCA	0.597																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(334-336)taC>taT		transglutaminase 6	L-Glutamine(DB00130)						94.0	83.0	87.0					20																	2375994		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375994C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.336C>T	20.37:g.2375994C>T						TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.Y112Y	p.Y112Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			3	397	+			112					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.336C>T	CCDS13025.1																																																																																				0.597	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		36	50	0	0	0	1	0	36	50				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	34	0	0	0	1	0	3	34				
CSNK2A1	1457	broad.mit.edu	37	20	472948	472948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:472948G>A	ENST00000217244.3	-	9	946	c.571C>T	c.(571-573)Cga>Tga	p.R191*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.R55*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAAGCAACTCGGACATTATAT	0.413																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(571-573)Cga>Tga		casein kinase 2, alpha 1 polypeptide							87.0	80.0	82.0					20																	472948		2203	4297	6500	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:472948G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.571C>T	20.37:g.472948G>A	ENSP00000217244:p.Arg191*					CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R55*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191*	p.R191*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		9	946	-		Breast(17;0.231)	191			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.571C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	39	7.581408	0.98371	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	.	.	.	4.84	2.83	0.33086	.	0.049668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8796	12.789	0.57522	0.0:0.0:0.5322:0.4678	.	.	.	.	X	191;191;191;191;55	.	ENSP00000217244:R191X	R	-	1	2	CSNK2A1	420948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.032000	0.41127	0.701000	0.31803	0.655000	0.94253	CGA		0.413	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		16	30	0	0	0	1	0	16	30				
ZNF589	51385	broad.mit.edu	37	3	48309874	48309874	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:48309874C>G	ENST00000354698.3	+	4	765	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	231					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAACCTGTTCAGACAGAAGG	0.498																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(691-693)ttC>ttG		zinc finger protein 589							85.0	92.0	90.0					3																	48309874		2159	4280	6439	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309874C>G	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.693C>G	3.37:g.48309874C>G	ENSP00000346729:p.Phe231Leu					ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	p.F231L	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	765	+			231					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.693C>G	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139712	0.01728	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.06068	3.35	1.47	-0.672	0.11377	.	.	.	.	.	T	0.02807	0.0084	N	0.05330	-0.07	0.19775	N	0.999951	B;B	0.16802	0.019;0.011	B;B	0.21546	0.033;0.035	T	0.48479	-0.9032	9	0.19590	T	0.45	.	4.0249	0.09683	0.0:0.5762:0.2464:0.1774	.	228;231	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	L	231;228	ENSP00000346729:F231L	ENSP00000296437:F228L	F	+	3	2	ZNF589	48284878	0.000000	0.05858	0.002000	0.10522	0.334000	0.28698	-1.986000	0.01484	-0.224000	0.09928	0.467000	0.42956	TTC		0.498	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		4	115	0	0	0	1	0	4	115				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	24	0	0	0	1	0	3	24				
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G	rs534390661	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33.0	40.0	38.0					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	90	0	0	0	1	0	10	90				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	80	0	0	0	1	0	4	80				
ZC3H12A	80149	broad.mit.edu	37	1	37946000	37946000	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:37946000G>A	ENST00000373087.6	+	3	669	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAGGAAGGAGCAGCCTCG	0.622																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(553-555)Gag>Aag		zinc finger CCCH-type containing 12A							78.0	65.0	69.0					1																	37946000		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37946000G>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.553G>A	1.37:g.37946000G>A	ENSP00000362179:p.Glu185Lys						p.E185K	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			3	669	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	185						Missense_Mutation	SNP	ENST00000373087.6	37	c.553G>A	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573144	0.96553	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.39406	1.08	4.8	4.8	0.61643	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	L	0.52905	1.665	0.80722	D	1	D	0.58620	0.983	D	0.71414	0.973	T	0.62300	-0.6883	10	0.54805	T	0.06	-27.5772	18.2296	0.89929	0.0:0.0:1.0:0.0	.	185	Q5D1E8	ZC12A_HUMAN	K	185	ENSP00000362179:E185K	ENSP00000362174:E185K	E	+	1	0	ZC3H12A	37718587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.414000	0.97362	2.387000	0.81309	0.563000	0.77884	GAG		0.622	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		18	28	0	0	0	1	0	18	28				
HLX	3142	broad.mit.edu	37	1	221055517	221055517	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:221055517G>A	ENST00000366903.6	+	3	2285	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	HLX_ENST00000549319.1_Missense_Mutation_p.V48M|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	262					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TCCCTATGCTGTGCTCACGAA	0.587																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(784-786)Gtg>Atg		H2.0-like homeobox							46.0	38.0	41.0					1																	221055517		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221055517G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.784G>A	1.37:g.221055517G>A	ENSP00000355870:p.Val262Met					HLX_ENST00000549319.1_Missense_Mutation_p.V48M	p.V262M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	3	2285	+			262					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.784G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466012	0.96257	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	T;T	0.35605	1.3;3.28	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000087	T	0.49660	0.1570	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	D	0.64776	0.929	T	0.34527	-0.9825	10	0.38643	T	0.18	-28.5089	19.8052	0.96529	0.0:0.0:1.0:0.0	.	262	Q14774	HLX_HUMAN	M	262;48	ENSP00000355870:V262M;ENSP00000449882:V48M	ENSP00000355870:V262M	V	+	1	0	HLX	219122140	1.000000	0.71417	0.954000	0.39281	0.983000	0.72400	9.830000	0.99415	2.688000	0.91661	0.561000	0.74099	GTG		0.587	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		3	26	0	0	0	1	0	3	26				
IGKV1-9	28941	broad.mit.edu	37	2	89309919	89309919	+	RNA	SNP	G	G	A	rs550594818		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:89309919G>A	ENST00000493819.1	-	0	93									immunoglobulin kappa variable 1-9																		AGAGCAGCAGGAGCCCCAGGA	0.552																																						ENST00000493819.1																			0																				87.0	86.0	86.0					2																	89309919		1843	4080	5923			0							g.chr2:89309919G>A	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309919G>A														0	93	-									RNA	SNP	ENST00000493819.1	37																																																																																						0.552	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		64	95	0	0	0	1	0	64	95				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	5	0	0	0	1	0	4	5				
KCNN3	3782	broad.mit.edu	37	1	154842242	154842244	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:154842242_154842244delGAA	ENST00000271915.4	-	1	512_514	c.197_199delTTC	c.(196-201)cttcag>cag	p.L66del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	tgctgctgctgaagctgcggagg	0.7																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(196-201)cag>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842242_154842244delGAA	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197_199delTTC	1.37:g.154842242_154842244delGAA	ENSP00000271915:p.Leu66del						p.LQ66del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	512_514	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		66			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.197_199delTTC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	6						3	6	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85361493	85361494	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:85361493_85361494delGG	ENST00000282111.3	+	3	636_637	c.361_362delGG	c.(361-363)gggfs	p.G121fs	TCF7L1_ENST00000494519.1_3'UTR	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	121	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCGTACCCTGGGTACCCCTTC	0.673																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(361-363)gfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85361493_85361494delGG	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.361_362delGG	2.37:g.85361493_85361494delGG	ENSP00000282111:p.Gly121fs					TCF7L1_ENST00000494519.1_3'UTR	p.G121fs	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			3	636_637	+			121			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	ENST00000282111.3	37	c.361_362delGG	CCDS1971.1																																																																																				0.673	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		2	4						2	4	---	---	---	---
PGRMC2	10424	broad.mit.edu	37	4	129208971	129208974	+	5'Flank	DEL	CCTC	CCTC	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:129208971_129208974delCCTC	ENST00000296425.5	-	0	0				PGRMC2_ENST00000503588.1_5'Flank|PGRMC2_ENST00000503872.1_5'Flank|PGRMC2_ENST00000520121.1_Frame_Shift_Del_p.GG17fs|PGRMC2_ENST00000512483.1_Intron			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2						steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										CCTTCCTCCTCCTCCCCGCCCCCT	0.721																																					Colon(78;371 1268 8296 41305 53030)	ENST00000520121.1																			0											c.(43-48)gafs		progesterone receptor membrane component 2																																				SO:0001631	upstream_gene_variant	10424							g.chr4:129208971_129208974delCCTC		CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342		4.37:g.129208971_129208974delCCTC	Exception_encountered					PGRMC2_ENST00000512483.1_Intron	p.GG17fs	NM_006320.4	NP_006311.2					1	1010_1013	-								Q569H1	Frame_Shift_Del	DEL	ENST00000296425.5	37	c.44_47delGAGG																																																																																					0.721	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1			2	4						2	4	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			15	91						15	91	---	---	---	---
AC004540.5	0	broad.mit.edu	37	7	26518706	26518706	+	lincRNA	DEL	C	C	-	rs35749684		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:26518706delC	ENST00000418758.2	+	0	468																											acctggccttccccctcttct	0.602																																						ENST00000418758.2																			0																																																			0							g.chr7:26518706delC																													7.37:g.26518706delC														0	468	+									RNA	DEL	ENST00000418758.2	37																																																																																						0.602	AC004540.5-201	KNOWN	basic	lincRNA	lincRNA				2	4						2	4	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767684	88767687	+	RNA	DEL	TCTT	TCTT	-	rs367961074|rs200372151		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:88767684_88767687delTCTT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGAAAATGTATCtttttttttttt	0.417																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767684_88767687delTCTT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767684_88767687delTCTT						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.417	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		2	4						2	4	---	---	---	---
SLC22A24	283238	broad.mit.edu	37	11	62850732	62850732	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:62850732delT	ENST00000417740.1	-	7	1709	c.1268delA	c.(1267-1269)aacfs	p.N423fs		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CAAAAAGGTGTTGACCAGAAT	0.458																																						ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(1267-1269)acfs		solute carrier family 22, member 24							93.0	76.0	81.0					11																	62850732		692	1591	2283	SO:0001589	frameshift_variant	283238							g.chr11:62850732delT		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1268delA	11.37:g.62850732delT	ENSP00000396586:p.Asn423fs						p.N423fs	NM_001136506.2	NP_001129978.2					7	1709	-									Frame_Shift_Del	DEL	ENST00000417740.1	37	c.1268delA																																																																																					0.458	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		2	4						2	4	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	48						20	48	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974154	44974155	+	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	rs71108655|rs375198387|rs3840828	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	ENST00000340446.4	-	1	2327_2328	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	c.(2035-2037)cct>ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	p.679_679P>PSEVQPPPAEEAP	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	679	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGGGCCTCCTC	0.604																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc		fibrous sheath CABYR binding protein				1640,2526		400,840,843						-1.0	0.0		dbSNP_107	31	3827,4381		924,1979,1201	no	coding	FSCB	NM_032135.3		1324,2819,2044	A1A1,A1R,RR		46.6252,39.3663,44.1813				5467,6907				SO:0001652	inframe_insertion	84075					cilium		g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	14.37:g.44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	Exception_encountered						p.678_679insPLKFSLHQLRRP	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2327_2328	-			678			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	In_Frame_Ins	INS	ENST00000340446.4	37	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	CCDS9679.1																																																																																				0.604	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		10	18						10	18	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457598	15457609	+	In_Frame_Del	DEL	GCTGAGGGTGGA	GCTGAGGGTGGA	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr16:15457598_15457609delGCTGAGGGTGGA	ENST00000360151.4	-	8	959_970	c.960_971delTCCACCCTCAGC	c.(958-972)gctccaccctcagcg>gcg	p.320_324APPSA>A		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	320	Pro-rich.																ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG	0.509																																						ENST00000360151.4																			0											c.(958-972)gcg>gc		nuclear pore complex interacting protein family, member A5																																				SO:0001651	inframe_deletion	100288332							g.chr16:15457598_15457609delGCTGAGGGTGGA		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.960_971delTCCACCCTCAGC	16.37:g.15457598_15457609delGCTGAGGGTGGA	ENSP00000433597:p.Ala320_Ser323del						p.APPSA320del	NM_001277325.1	NP_001264254.1					8	959_970	-								Q0P618	In_Frame_Del	DEL	ENST00000360151.4	37	c.960_971delTCCACCCTCAGC	CCDS59264.1																																																																																				0.509	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	11						5	11	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		7	200						7	200	---	---	---	---
RBBP8NL	140893	broad.mit.edu	37	20	60989556	60989556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:60989556delG	ENST00000252998.1	-	10	1007	c.851delC	c.(850-852)ccgfs	p.P284fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	284						extracellular space (GO:0005615)											GTCCACCTTCGGGGAGAGCTT	0.701																																						ENST00000252998.1																			0											c.(850-852)cgfs		RBBP8 N-terminal like							4.0	5.0	5.0					20																	60989556		2039	4078	6117	SO:0001589	frameshift_variant	140893							g.chr20:60989556delG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.851delC	20.37:g.60989556delG	ENSP00000252998:p.Pro284fs						p.P284fs	NM_080833.2	NP_543023.2					10	1007	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.851delC	CCDS13498.1																																																																																				0.701	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		2	4						2	4	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21327670	21327670	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr22:21327670delA	ENST00000399167.2	+	3	346	c.106delA	c.(106-108)agcfs	p.S36fs	AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	36					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGAAGGGCAGCCCCCGGGC	0.677																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(106-108)gcfs		apoptosis-inducing factor, mitochondrion-associated, 3							25.0	24.0	25.0					22																	21327670		2199	4298	6497	SO:0001589	frameshift_variant	150209							g.chr22:21327670delA	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.106delA	22.37:g.21327670delA	ENSP00000382120:p.Ser36fs					AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs	p.S36fs	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	346	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Frame_Shift_Del	DEL	ENST00000399167.2	37	c.106delA	CCDS13786.1																																																																																				0.677	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		5	9						5	9	---	---	---	---
