#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF8	728841	broad.mit.edu	37	1	144220806	144220806	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:144220806G>T	ENST00000369373.5	+	2	73	c.73G>T	c.(73-75)Gat>Tat	p.D25Y				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GGAGCTGCTGGATGAGAAAGA	0.483																																						ENST00000369373.5																			0											c.(73-75)Gat>Tat		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220806G>T	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.73G>T	1.37:g.144220806G>T	ENSP00000358380:p.Asp25Tyr						p.D25Y							2	73	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.73G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.207|7.207	0.594667|0.594667	0.13875|0.13875	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07688|.	3.17|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	D;.;D;D|.	0.69078|.	0.987;.;0.997;0.991|.	D;.;D;D|.	0.73380|.	0.961;.;0.98;0.941|.	T|.	0.29610|.	-1.0006|.	4|.	0.87932|.	D|.	0|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	Y|C	25|3575	ENSP00000358380:D25Y|.	ENSP00000358380:D25Y|.	D|W	+|+	1|3	0|0	RP3-377D14.1|RP3-377D14.1	142932163|142932163	0.555000|0.555000	0.26530|0.26530	.|.	.|.	.|.	.|.	-0.730000|-0.730000	0.04915|0.04915	.|.	.|.	.|.	.|.	GAT|TGG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				20	170	20	170	---	---	---	---
UCK2	7371	broad.mit.edu	37	1	165872475	165872475	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:165872475A>C	ENST00000367879.4	+	5	859	c.556A>C	c.(556-558)Att>Ctt	p.I186L	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000462329.1_3'UTR|RP11-525G13.2_ENST00000455257.2_RNA	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	186					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATCTCAGTACATTACGTTCGT	0.388																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(556-558)Att>Ctt		uridine-cytidine kinase 2							255.0	219.0	231.0					1																	165872475		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165872475A>C	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.556A>C	1.37:g.165872475A>C	ENSP00000356853:p.Ile186Leu					UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L	p.I186L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			5	859	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		186					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.556A>C	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173058	0.57584	.	.	ENSG00000143179	ENST00000367879	.	.	.	4.83	4.83	0.62350	Phosphoribulokinase/uridine kinase (1);	0.047721	0.85682	D	0.000000	T	0.04679	0.0127	N	0.00387	-1.565	0.50632	D	0.999884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22312	-1.0220	8	0.14656	T	0.56	-10.3876	12.4166	0.55496	1.0:0.0:0.0:0.0	.	36;186	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	L	186	.	ENSP00000356853:I186L	I	+	1	0	UCK2	164139099	1.000000	0.71417	0.962000	0.40283	0.895000	0.52256	8.839000	0.92120	2.032000	0.59987	0.533000	0.62120	ATT		0.388	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		6	172	6	172	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185880806	185880806	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:185880806G>A	ENST00000271588.4	+	6	1023	c.794G>A	c.(793-795)gGg>gAg	p.G265E	HMCN1_ENST00000367492.2_Splice_Site_p.G265E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	265					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTTTCAGGGAAGCTGATA	0.373																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(793-795)gGg>gAg		hemicentin 1							213.0	225.0	221.0					1																	185880806		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185880806G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.794-1G>A	1.37:g.185880806G>A						HMCN1_ENST00000367492.2_Splice_Site_p.G265E	p.G265E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			6	1023	+			265					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.794G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771416	0.90108	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73152	-0.71;-0.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83578	0.0116	9	.	.	.	.	20.0429	0.97598	0.0:0.0:1.0:0.0	.	265	Q96RW7	HMCN1_HUMAN	E	265	ENSP00000271588:G265E;ENSP00000356462:G265E	.	G	+	2	0	HMCN1	184147429	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.828000	0.92047	2.812000	0.96745	0.555000	0.69702	GGG		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	42	64	42	64	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222833531	222833531	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:222833531A>G	ENST00000344922.5	+	24	5013	c.4988A>G	c.(4987-4989)cAg>cGg	p.Q1663R	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1663	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTGAGCCAGAATGGCTCT	0.468																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4987-4989)cAg>cGg		melanoma inhibitory activity family, member 3							90.0	92.0	91.0					1																	222833531		1896	4116	6012	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833531A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4988A>G	1.37:g.222833531A>G	ENSP00000340900:p.Gln1663Arg					MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R	p.Q1663R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	24	5013	+			1663			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4988A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337663	0.24253	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.28895	1.59;1.59;1.59	6.08	4.96	0.65561	.	.	.	.	.	T	0.20170	0.0485	L	0.39397	1.21	0.27798	N	0.942598	B;B	0.26120	0.067;0.142	B;B	0.25140	0.058;0.047	T	0.23476	-1.0187	9	0.12766	T	0.61	.	3.4956	0.07654	0.6952:0.0:0.3048:0.0	.	541;1663	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	R	1663;1663;1604;541;541	ENSP00000340900:Q1663R;ENSP00000340587:Q1663R;ENSP00000345866:Q541R	ENSP00000284471:Q541R	Q	+	2	0	MIA3	220900154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.741000	0.47426	2.330000	0.79161	0.533000	0.62120	CAG		0.468	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		25	25	25	25	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141945999	141945999	+	Missense_Mutation	SNP	G	G	C	rs572771636		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:141945999G>C	ENST00000389484.3	-	7	1975	c.1004C>G	c.(1003-1005)cCa>cGa	p.P335R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	335					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGCTATTGGATCTACTGC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1003-1005)cCa>cGa		low density lipoprotein receptor-related protein 1B							79.0	76.0	77.0					2																	141945999		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141945999G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1004C>G	2.37:g.141945999G>C	ENSP00000374135:p.Pro335Arg	TSP Lung(27;0.18)					p.P335R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	7	1975	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	335					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1004C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560313	0.86335	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95518	-3.73	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.98473	0.9491	H	0.96015	3.755	0.58432	D	0.999999	D	0.69078	0.997	D	0.65874	0.939	D	0.99741	1.1015	10	0.87932	D	0	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	335	Q9NZR2	LRP1B_HUMAN	R	335;273	ENSP00000374135:P335R	ENSP00000374135:P335R	P	-	2	0	LRP1B	141662469	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.749000	0.98871	2.406000	0.81754	0.655000	0.94253	CCA		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	47	17	47	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134670794	134670794	+	Silent	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:134670794C>T	ENST00000398015.3	+	3	1075	c.705C>T	c.(703-705)ccC>ccT	p.P235P	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	235	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGACGTGCCCATCAAACTCT	0.557																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(703-705)ccC>ccT		EPH receptor B1							173.0	170.0	171.0					3																	134670794		2099	4251	6350	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670794C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.705C>T	3.37:g.134670794C>T						EPHB1_ENST00000488154.1_Intron	p.P235P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1075	+			235			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.705C>T	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		65	79	65	79	---	---	---	---
PDK4	5166	broad.mit.edu	37	7	95222106	95222106	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:95222106G>C	ENST00000005178.5	-	4	692	c.495C>G	c.(493-495)aaC>aaG	p.N165K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	165	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAAATACGGTTCATGTAAA	0.373																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(493-495)aaC>aaG		pyruvate dehydrogenase kinase, isozyme 4							136.0	131.0	133.0					7																	95222106		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222106G>C	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.495C>G	7.37:g.95222106G>C	ENSP00000005178:p.Asn165Lys						p.N165K	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	692	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		165			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.495C>G	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501492	0.85176	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.30182	1.54	5.75	3.96	0.45880	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.037176	0.85682	D	0.000000	T	0.45875	0.1364	L	0.43152	1.355	0.58432	D	0.999998	D	0.62365	0.991	D	0.74348	0.983	T	0.41840	-0.9486	10	0.87932	D	0	.	12.5738	0.56352	0.1341:0.0:0.8659:0.0	.	165	Q16654	PDK4_HUMAN	K	165;129	ENSP00000005178:N165K	ENSP00000005178:N165K	N	-	3	2	PDK4	95060042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	0.914000	0.36822	0.655000	0.94253	AAC		0.373	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		4	64	4	64	---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646088	71646088	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr8:71646088T>C	ENST00000408926.3	+	5	1085	c.551T>C	c.(550-552)gTa>gCa	p.V184A	XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	184						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTATCAAGTAGCTTTAAGA	0.313																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(550-552)gTa>gCa		XK, Kell blood group complex subunit-related family, member 9							81.0	76.0	78.0					8																	71646088		2203	4298	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646088T>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.551T>C	8.37:g.71646088T>C	ENSP00000386141:p.Val184Ala					XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	p.V184A	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1085	+	Breast(64;0.0716)		184					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.551T>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446188	0.43429	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.62639	0.01;0.01	4.69	4.69	0.59074	.	0.418104	0.26808	N	0.022383	T	0.49558	0.1564	L	0.36672	1.1	0.24235	N	0.995382	B	0.30563	0.285	B	0.28916	0.096	T	0.31943	-0.9925	10	0.11794	T	0.64	-6.6104	14.6127	0.68526	0.0:0.0:0.0:1.0	.	184	Q5GH70	XKR9_HUMAN	A	184	ENSP00000386141:V184A;ENSP00000431088:V184A	ENSP00000386141:V184A	V	+	2	0	XKR9	71808642	0.952000	0.32445	1.000000	0.80357	0.889000	0.51656	2.763000	0.47605	2.100000	0.63781	0.460000	0.39030	GTA		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		16	67	16	67	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24880205	24880205	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr10:24880205G>T	ENST00000396432.2	-	24	4585	c.4099C>A	c.(4099-4101)Cat>Aat	p.H1367N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1366					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAGTAAATGATCTATGTTT	0.448																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4099-4101)Cat>Aat		Rho GTPase activating protein 21							178.0	173.0	175.0					10																	24880205		2203	4297	6500	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24880205G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4099C>A	10.37:g.24880205G>T	ENSP00000379709:p.His1367Asn					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	p.H1367N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			24	4585	-			1366					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4099C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204825	0.79127	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481	T;T	0.12255	2.7;2.83	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	1366	Q5T5U3	RHG21_HUMAN	N	1367;816;1154	ENSP00000379709:H1367N;ENSP00000365604:H1154N	ENSP00000365604:H1154N	H	-	1	0	ARHGAP21	24920211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.805000	0.99149	2.814000	0.96858	0.655000	0.94253	CAT		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		28	55	28	55	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122685876	122685876	+	Splice_Site	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:122685876G>C	ENST00000339777.4	+	11	1871	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000546192.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	615										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCCAAAAAAGGTGAGTGCCG	0.522																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1843-1845)Gaa>Caa		leucine rich repeat containing 43							139.0	145.0	143.0					12																	122685876		1914	4132	6046	SO:0001630	splice_region_variant	254050							g.chr12:122685876G>C	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1843+1G>C	12.37:g.122685876G>C						LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|LRRC43_ENST00000537733.1_3'UTR	p.E615Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1871	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		615					Q6ZVT9	Splice_Site	SNP	ENST00000339777.4	37	c.1843G>C	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567824	0.45798	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.92	3.66	3.66	0.41972	.	0.605551	0.15655	N	0.251194	T	0.49609	0.1567	L	0.40543	1.245	0.27777	N	0.943276	P	0.34684	0.463	B	0.43658	0.426	T	0.42241	-0.9463	10	0.25106	T	0.35	-0.9642	11.5993	0.50993	0.0:0.0:1.0:0.0	.	615	Q8N309	LRC43_HUMAN	Q	615;486;430	ENSP00000344233:E615Q;ENSP00000416628:E430Q	ENSP00000289014:E486Q	E	+	1	0	LRRC43	121251829	1.000000	0.71417	0.686000	0.30086	0.172000	0.22775	3.812000	0.55628	1.989000	0.58080	0.561000	0.74099	GAA		0.522	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	Missense_Mutation	24	39	24	39	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42273390	42273390	+	Silent	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr13:42273390A>C	ENST00000379310.3	-	29	3449	c.3381T>G	c.(3379-3381)acT>acG	p.T1127T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1127						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTACATAGAGAGTATTTTGCT	0.378																																						ENST00000379310.3																			0											c.(3379-3381)acT>acG		von Willebrand factor A domain containing 8							78.0	76.0	77.0					13																	42273390		1841	4089	5930	SO:0001819	synonymous_variant	23078							g.chr13:42273390A>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3381T>G	13.37:g.42273390A>C							p.T1127T	NM_015058.1	NP_055873.1					29	3449	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.3381T>G	CCDS41881.1																																																																																				0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		29	35	29	35	---	---	---	---
IRX3	79191	broad.mit.edu	37	16	54319405	54319405	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:54319405G>A	ENST00000329734.3	-	2	1100	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	130					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTCTTGGGACGGGACGGGTCC	0.677																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(388-390)Cgt>Tgt		iroquois homeobox 3							94.0	75.0	81.0					16																	54319405		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319405G>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.388C>T	16.37:g.54319405G>A	ENSP00000331608:p.Arg130Cys						p.R130C	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1100	-			130					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.388C>T	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409750	0.42715	.	.	ENSG00000177508	ENST00000329734	T	0.65916	-0.18	3.84	1.82	0.25136	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.73338	-0.4014	10	0.72032	D	0.01	-2.0244	4.7363	0.12989	0.1063:0.0:0.5138:0.3799	.	130	P78415	IRX3_HUMAN	C	130	ENSP00000331608:R130C	ENSP00000331608:R130C	R	-	1	0	IRX3	52876906	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	2.841000	0.48223	0.383000	0.24910	-0.251000	0.11542	CGT		0.677	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			3	28	3	28	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9868382	9868382	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868382T>A	ENST00000397902.2	-	6	1784	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAGCAAATGCTTTACCGCATT	0.438																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1369-1371)aaA>aaT		zinc finger protein 846							94.0	105.0	101.0					19																	9868382		2153	4278	6431	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868382T>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1371A>T	19.37:g.9868382T>A	ENSP00000380999:p.Lys457Asn					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	p.K457N	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1784	-			457					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1371A>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.611741	0.46631	.	.	ENSG00000196605	ENST00000397902	T	0.07908	3.15	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26666	0.0652	M	0.86651	2.83	0.18873	N	0.999982	D	0.65815	0.995	P	0.61592	0.891	T	0.03287	-1.1052	8	.	.	.	.	8.067	0.30667	0.0:0.0:0.0:1.0	.	457	Q147U1	ZN846_HUMAN	N	457	ENSP00000380999:K457N	.	K	-	3	2	ZNF846	9729382	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-1.326000	0.02685	1.205000	0.43262	0.454000	0.30748	AAA		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		6	87	6	87	---	---	---	---
RP11-305B6.3	0	broad.mit.edu	37	14	44589519	44589520	+	lincRNA	DEL	TC	TC	-	rs560088231		TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:44589519_44589520delTC	ENST00000553827.1	-	0	69																											TTGGAGTTCTTCAGCAGATTCT	0.391																																						ENST00000553827.1																			0																																																			0							g.chr14:44589519_44589520delTC																													14.37:g.44589519_44589520delTC														0	69	-									RNA	DEL	ENST00000553827.1	37																																																																																						0.391	RP11-305B6.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410013.1			17	34	17	34	---	---	---	---
