#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
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	40	0	0	0	1	0	5	40				
TUBB3	10381	broad.mit.edu	37	16	90002016	90002016	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr16:90002016C>T	ENST00000315491.7	+	4	1280	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.T314M|TUBB3_ENST00000556922.1_Missense_Mutation_p.T733M	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	386					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GAGCAGTTCACGGCCATGTTC	0.622																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(940-942)aCg>aTg		tubulin, beta 3 class III							117.0	109.0	111.0					16																	90002016		2198	4297	6495	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90002016C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1157C>T	16.37:g.90002016C>T	ENSP00000320295:p.Thr386Met					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.T733M|TUBB3_ENST00000315491.7_Missense_Mutation_p.T386M|TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M	p.T314M			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3236	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	386					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.941C>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894515	0.52121	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.66	4.66	0.58398	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000017	D	0.87430	0.6175	M	0.86420	2.815	0.53688	D	0.999972	B;P	0.47762	0.391;0.9	B;B	0.40636	0.335;0.248	D	0.89677	0.3888	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	386;386	Q13509;B2RBD5	TBB3_HUMAN;.	M	733;386;314;314;386	ENSP00000451560:T733M;ENSP00000302777:T314M;ENSP00000451617:T314M;ENSP00000320295:T386M	.	T	+	2	0	RP11-566K11.2;TUBB3	88529517	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.600000	0.82769	2.313000	0.78055	0.561000	0.74099	ACG		0.622	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		4	148	0	0	0	1	0	4	148				
VPS28	51160	broad.mit.edu	37	8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr8:145649475C>T	ENST00000526054.1	-	8	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000377348.2_Missense_Mutation_p.R166H|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000292510.4_Missense_Mutation_p.R166H			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(496-498)cGc>cAc		vacuolar protein sorting 28 homolog (S. cerevisiae)							53.0	59.0	57.0					8																	145649475		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649475C>T	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.497G>A	8.37:g.145649475C>T	ENSP00000434064:p.Arg166His					VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H	p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	586	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		166			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.497G>A	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770276	0.69992	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.32	3.5	0.40072	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.049523	0.64402	D	0.000001	T	0.78039	0.4221	M	0.93150	3.385	0.58432	D	0.999997	D;P	0.58268	0.982;0.89	P;P	0.54759	0.76;0.614	T	0.83080	-0.0138	9	0.87932	D	0	.	10.4447	0.44486	0.0:0.8359:0.0:0.1641	.	166;166	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	H	166;166;166;166;149	.	ENSP00000292510:R166H	R	-	2	0	VPS28	145620283	1.000000	0.71417	0.973000	0.42090	0.187000	0.23431	3.575000	0.53870	1.490000	0.48466	-0.137000	0.14449	CGC		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			3	45	0	0	0	1	0	3	45				
RNASEH2B	79621	broad.mit.edu	37	13	51530586	51530586	+	Missense_Mutation	SNP	T	T	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr13:51530586T>A	ENST00000336617.3	+	11	1314	c.915T>A	c.(913-915)aaT>aaA	p.N305K	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	305				N -> K (in Ref. 6; AAH05088). {ECO:0000305}.	in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAA	0.299																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(913-915)aaT>aaA		ribonuclease H2, subunit B							19.0	21.0	20.0					13																	51530586		2195	4282	6477	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530586T>A	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.915T>A	13.37:g.51530586T>A	ENSP00000337623:p.Asn305Lys					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.N305K	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1314	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	305					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.915T>A	CCDS9425.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.008|0.008	-1.926206|-1.926206	0.00493|0.00493	.|.	.|.	ENSG00000136104|ENSG00000136104	ENST00000539292|ENST00000336617	.|D	.|0.96011	.|-3.88	6.06|6.06	0.743|0.743	0.18347|0.18347	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82628	.|0.5078	N|N	0.02916|0.02916	-0.46|-0.46	0.09310|0.09310	N|N	0.999998|0.999998	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.72613	.|-0.4240	.|9	.|0.06099	.|T	.|0.92	.|1.0087	4.881|4.881	0.13679|0.13679	0.0:0.2522:0.1469:0.6009|0.0:0.2522:0.1469:0.6009	.|.	.|305	.|Q5TBB1	.|RNH2B_HUMAN	.|K	-1|305	.|ENSP00000337623:N305K	.|ENSP00000337623:N305K	.|N	+|+	.|3	.|2	RNASEH2B|RNASEH2B	50428587|50428587	0.914000|0.914000	0.31030|0.31030	0.043000|0.043000	0.18650|0.18650	0.063000|0.063000	0.16089|0.16089	1.108000|1.108000	0.31123|0.31123	0.178000|0.178000	0.19917|0.19917	-0.912000|-0.912000	0.02778|0.02778	.|AAT		0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		5	68	0	0	0	1	0	5	68				
LMO7	4008	broad.mit.edu	37	13	76375012	76375012	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr13:76375012C>T	ENST00000341547.4	+	8	2071	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.R271C|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	271					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGAGGGGGGCGTGAAGGTGT	0.448																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(811-813)Cgt>Tgt		LIM domain 7							152.0	160.0	158.0					13																	76375012		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375012C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.811C>T	13.37:g.76375012C>T	ENSP00000342112:p.Arg271Cys					LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Missense_Mutation_p.R271C|LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C	p.R271C			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2071	+		Breast(118;0.0992)	271					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.811C>T	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591116	0.66219	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.45276	1.44;1.45;1.46;0.9;0.9	5.61	3.63	0.41609	.	0.382802	0.26146	N	0.026079	T	0.45034	0.1322	L	0.29908	0.895	0.30167	N	0.801653	D;D;D	0.71674	0.992;0.998;0.996	P;P;P	0.57679	0.731;0.825;0.791	T	0.48375	-0.9041	10	0.72032	D	0.01	-0.4401	11.9871	0.53153	0.6141:0.3859:0.0:0.0	.	180;271;219	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	C	271;271;271;219;180	ENSP00000342112:R271C;ENSP00000349571:R271C;ENSP00000366757:R271C;ENSP00000366719:R219C;ENSP00000431129:R180C	ENSP00000342112:R271C	R	+	1	0	LMO7	75273013	0.999000	0.42202	0.155000	0.22561	0.397000	0.30659	3.306000	0.51881	1.304000	0.44892	0.591000	0.81541	CGT		0.448	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		4	144	0	0	0	1	0	4	144				
ZKSCAN1	7586	broad.mit.edu	37	7	99621184	99621184	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr7:99621184G>A	ENST00000324306.6	+	2	289	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E19K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCTGCACAGGAGAAGGATGG	0.557																																						ENST00000324306.6																			1	Substitution - Missense(1)	p.E19K(1)	lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(55-57)Gag>Aag		zinc finger with KRAB and SCAN domains 1							92.0	83.0	86.0					7																	99621184		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621184G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.55G>A	7.37:g.99621184G>A	ENSP00000323148:p.Glu19Lys					ZKSCAN1_ENST00000426572.1_5'UTR|ZKSCAN1_ENST00000535170.1_Intron	p.E19K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	289	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		19					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.55G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976960	0.74360	.	.	ENSG00000106261	ENST00000324306;ENST00000432317	T;T	0.08370	3.1;3.81	4.63	4.63	0.57726	.	0.121584	0.37178	N	0.002212	T	0.07728	0.0194	L	0.58810	1.83	0.80722	D	1	P	0.37781	0.608	B	0.26864	0.074	T	0.28364	-1.0046	10	0.14656	T	0.56	.	12.8515	0.57860	0.0:0.0:1.0:0.0	.	19	P17029	ZKSC1_HUMAN	K	19	ENSP00000323148:E19K;ENSP00000394445:E19K	ENSP00000323148:E19K	E	+	1	0	ZKSCAN1	99459120	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.045000	0.49838	2.398000	0.81561	0.484000	0.47621	GAG		0.557	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	49	0	0	0	1	0	4	49				
KBTBD12	166348	broad.mit.edu	37	3	127646684	127646684	+	Missense_Mutation	SNP	T	T	C			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:127646684T>C	ENST00000405109.1	+	3	1615	c.1148T>C	c.(1147-1149)aTt>aCt	p.I383T	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	383										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGGGCAGTATTCATAATGAC	0.373																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1147-1149)aTt>aCt		kelch repeat and BTB (POZ) domain containing 12							131.0	139.0	136.0					3																	127646684		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127646684T>C		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1148T>C	3.37:g.127646684T>C	ENSP00000385957:p.Ile383Thr					KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T|KBTBD12_ENST00000407609.3_5'UTR	p.I383T			Q3ZCT8	KBTBC_HUMAN			3	1615	+			383					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1148T>C	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476519	0.44044	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.79141	-1.24;-1.24	5.94	5.94	0.96194	Kelch-type beta propeller (1);	.	.	.	.	T	0.72676	0.3490	L	0.41710	1.295	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.66404	-0.5932	9	0.87932	D	0	.	12.1936	0.54284	0.0:0.0679:0.0:0.9321	.	383	Q3ZCT8	KBTBC_HUMAN	T	383	ENSP00000385957:I383T;ENSP00000385879:I383T	ENSP00000385957:I383T	I	+	2	0	KBTBD12	129129374	0.376000	0.25098	0.006000	0.13384	0.960000	0.62799	4.227000	0.58612	2.265000	0.75225	0.482000	0.46254	ATT		0.373	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		5	99	0	0	0	1	0	5	99				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	97	0	0	0	1	0	5	97				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		4	24	0	0	0	1	0	4	24				
DNAH9	1770	broad.mit.edu	37	17	11642318	11642318	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr17:11642318G>A	ENST00000262442.4	+	29	6004	c.5936G>A	c.(5935-5937)cGc>cAc	p.R1979H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1979	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGCTGGCCGCACAGAGCTG	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5935-5937)cGc>cAc		dynein, axonemal, heavy chain 9							74.0	70.0	71.0					17																	11642318		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11642318G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5936G>A	17.37:g.11642318G>A	ENSP00000262442:p.Arg1979His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H	p.R1979H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	29	6004	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1979			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5936G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137893	0.94517	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15017	2.46;2.46	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73557	-0.3945	10	0.87932	D	0	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	1979	Q9NYC9	DYH9_HUMAN	H	1979;1979;561	ENSP00000262442:R1979H;ENSP00000414874:R1979H	ENSP00000262442:R1979H	R	+	2	0	DNAH9	11583043	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.670000	0.98625	2.807000	0.96579	0.591000	0.81541	CGC		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	46	0	0	0	1	0	3	46				
HCN2	610	broad.mit.edu	37	19	605212	605212	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:605212A>G	ENST00000251287.2	+	3	1261	c.1208A>G	c.(1207-1209)aAt>aGt	p.N403S		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	403					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCATCAATGGCATGGTG	0.647																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1207-1209)aAt>aGt		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							75.0	60.0	65.0					19																	605212		2202	4298	6500	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:605212A>G	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1208A>G	19.37:g.605212A>G	ENSP00000251287:p.Asn403Ser						p.N403S	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1261	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	403					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1208A>G	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.492148	0.64074	.	.	ENSG00000099822	ENST00000251287	D	0.98822	-5.16	3.65	3.65	0.41850	Ion transport (1);	.	.	.	.	D	0.97611	0.9217	M	0.71581	2.175	0.58432	D	0.999996	B	0.24963	0.115	B	0.34346	0.18	D	0.97146	0.9828	9	0.35671	T	0.21	.	11.4209	0.49980	1.0:0.0:0.0:0.0	.	403	Q9UL51	HCN2_HUMAN	S	403	ENSP00000251287:N403S	ENSP00000251287:N403S	N	+	2	0	HCN2	556212	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	9.116000	0.94341	1.409000	0.46915	0.324000	0.21423	AAT		0.647	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		8	35	0	0	0	1	0	8	35				
IRAK4	51135	broad.mit.edu	37	12	44171441	44171441	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr12:44171441A>G	ENST00000448290.2	+	7	796	c.725A>G	c.(724-726)cAt>cGt	p.H242R	IRAK4_ENST00000431837.1_Missense_Mutation_p.H118R|IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R|IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AGGTGTCAACATGAAAACTTA	0.303																																						ENST00000431837.1																			0											c.(352-354)cAt>cGt		interleukin-1 receptor-associated kinase 4							134.0	121.0	125.0					12																	44171441		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44171441A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.725A>G	12.37:g.44171441A>G	ENSP00000390651:p.His242Arg					IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R|IRAK4_ENST00000448290.2_Missense_Mutation_p.H242R|IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R	p.H118R	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	6	661	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	242					Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.353A>G	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236558	0.79800	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	H	0.98276	4.19	0.80722	D	1	D	0.55385	0.971	D	0.68353	0.957	D	0.95396	0.8486	10	0.87932	D	0	-23.8683	16.1641	0.81743	1.0:0.0:0.0:0.0	.	242	Q9NWZ3	IRAK4_HUMAN	R	118;118;242;242	ENSP00000408734:H118R;ENSP00000390327:H118R;ENSP00000390651:H242R;ENSP00000446490:H242R	ENSP00000390327:H118R	H	+	2	0	IRAK4	42457708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.509000	0.90529	2.211000	0.71520	0.477000	0.44152	CAT		0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			16	27	0	0	0	1	0	16	27				
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172.0	176.0	174.0					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	209	0	0	0	1	0	6	209				
GPR128	84873	broad.mit.edu	37	3	100328717	100328717	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:100328717C>T	ENST00000273352.3	+	1	285	c.17C>T	c.(16-18)gCc>gTc	p.A6V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	6					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCCTGCCGTGCCTGGAACCTT	0.483																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(16-18)gCc>gTc		G protein-coupled receptor 128							165.0	140.0	148.0					3																	100328717		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100328717C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.17C>T	3.37:g.100328717C>T	ENSP00000273352:p.Ala6Val						p.A6V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			1	285	+			6					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.17C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271829	0.23221	.	.	ENSG00000144820	ENST00000273352	T	0.39592	1.07	5.37	-2.11	0.07187	.	1.895920	0.02324	N	0.073287	T	0.25865	0.0630	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13791	-1.0496	10	0.41790	T	0.15	.	1.3581	0.02186	0.1423:0.3333:0.2825:0.2419	.	6	Q96K78	GP128_HUMAN	V	6	ENSP00000273352:A6V	ENSP00000273352:A6V	A	+	2	0	GPR128	101811407	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.409000	0.07160	-0.090000	0.12462	0.563000	0.77884	GCC		0.483	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	45	0	0	0	1	0	4	45				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	3						3	3	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			349152							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	4						3	4	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			3	6						3	6	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	40						7	40	---	---	---	---
