#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
TGFBRAP1	9392	broad.mit.edu	37	2	105924087	105924087	+	Silent	SNP	C	C	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:105924087C>A	ENST00000393359.2	-	2	1098	c.672G>T	c.(670-672)gcG>gcT	p.A224A	TGFBRAP1_ENST00000258449.1_Silent_p.A224A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	224	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCGGGGCCCGCCAGCAGGA	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(670-672)gcG>gcT		transforming growth factor, beta receptor associated protein 1							92.0	106.0	101.0					2																	105924087		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924087C>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.672G>T	2.37:g.105924087C>A			Somatic				TGFBRAP1_ENST00000258449.1_Silent_p.A224A	p.A224A			WXS	Illumina GAIIx	Phase_I	Q8WUH2	TGFA1_HUMAN			2	1098	-			224			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.672G>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	212	4	212	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408704	128408704	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:128408704C>T	ENST00000272644.3	+	3	553	c.479C>T	c.(478-480)gCc>gTc	p.A160V	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.A160V|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	160					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGTTTCCTGGCCATTGTGCAC	0.617																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(478-480)gCc>gTc		G protein-coupled receptor 17							131.0	108.0	116.0					2																	128408704		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408704C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.479C>T	2.37:g.128408704C>T	ENSP00000272644:p.Ala160Val		Somatic				LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.A160V|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron	p.A160V	NM_001161415.1	NP_001154887.1	WXS	Illumina GAIIx	Phase_I	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1090	+	Colorectal(110;0.1)	Ovarian(717;0.15)	160					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.479C>T	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	c	32	5.172133	0.94807	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.52057	0.68;0.68;0.68	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71580	-0.4550	10	0.40728	T	0.16	.	19.1293	0.93399	0.0:1.0:0.0:0.0	.	160	Q13304	GPR17_HUMAN	V	160	ENSP00000442982:A160V;ENSP00000272644:A160V;ENSP00000376741:A160V	ENSP00000272644:A160V	A	+	2	0	GPR17	128125174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.001000	0.70685	2.525000	0.85131	0.591000	0.81541	GCC		0.617	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			5	160	5	160	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47951176	47951176	+	Intron	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:47951176C>T	ENST00000360240.6	-	8	2518				MAP4_ENST00000426837.2_Missense_Mutation_p.V1596M|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M|MAP4_ENST00000395734.3_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TCTACTGGCACTCCAGGAAGG	0.493																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(4786-4788)Gtg>Atg		microtubule-associated protein 4							69.0	68.0	68.0					3																	47951176		1974	4155	6129	SO:0001627	intron_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47951176C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5130G>A	3.37:g.47951176C>T			Somatic				MAP4_ENST00000360240.6_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M|MAP4_ENST00000383737.4_Intron	p.V1596M			WXS	Illumina GAIIx	Phase_I	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	10	4873	-			969					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.4786G>A	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	5.786	0.329403	0.10956	.	.	ENSG00000047849	ENST00000264724;ENST00000426837;ENST00000383736	T;T	0.50277	0.75;2.59	4.96	2.11	0.27256	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	B;B	0.32101	0.356;0.243	B;B	0.33454	0.164;0.079	T	0.16188	-1.0411	7	.	.	.	.	4.7754	0.13176	0.0:0.6284:0.1792:0.1924	.	186;186	P27816-4;E9PGM5	.;.	M	186;1596;186	ENSP00000264724:V186M;ENSP00000407602:V1596M	.	V	-	1	0	MAP4	47926180	0.000000	0.05858	0.001000	0.08648	0.464000	0.32679	-0.765000	0.04730	0.745000	0.32763	0.561000	0.74099	GTG		0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	112	4	112	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111918172	111918172	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:111918172T>C	ENST00000305815.5	-	20	2771	c.2519A>G	c.(2518-2520)aAt>aGt	p.N840S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	840					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTTACCTTATTAATTCCAGC	0.308																																						ENST00000305815.5																			0											c.(2518-2520)aAt>aGt		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							79.0	87.0	85.0					3																	111918172		2202	4297	6499	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918172T>C	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2519A>G	3.37:g.111918172T>C	ENSP00000306627:p.Asn840Ser		Somatic				SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	p.N840S	NM_183061.1	NP_898884.1	WXS	Illumina GAIIx	Phase_I	Q4G0N8	S9A10_HUMAN			20	2771	-			840					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2519A>G	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318607	0.05386	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77358	-1.08;-1.09	5.73	1.95	0.26073	.	0.416957	0.22445	N	0.059977	T	0.65688	0.2715	L	0.45051	1.395	0.09310	N	0.999999	B;B	0.17667	0.023;0.001	B;B	0.23018	0.043;0.002	T	0.51474	-0.8701	10	0.30854	T	0.27	.	5.6414	0.17567	0.1289:0.1545:0.0:0.7166	.	792;840	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	S	840;792	ENSP00000306627:N840S;ENSP00000420688:N792S	ENSP00000306627:N840S	N	-	2	0	SLC9A10	113400862	0.838000	0.29461	0.592000	0.28758	0.004000	0.04260	0.483000	0.22292	-0.139000	0.11414	-1.139000	0.01908	AAT		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		11	127	11	127	---	---	---	---
WASF1	8936	broad.mit.edu	37	6	110422901	110422901	+	Missense_Mutation	SNP	G	G	A	rs150788183		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr6:110422901G>A	ENST00000392589.1	-	10	2248	c.1412C>T	c.(1411-1413)cCt>cTt	p.P471L	WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L|WASF1_ENST00000359451.2_Missense_Mutation_p.P471L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	471					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGAGATGGAGGCATTAATGG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		16673	0.001		0.0	False		,,,				2504	0.0					ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1411-1413)cCt>cTt		WAS protein family, member 1							191.0	183.0	185.0					6																	110422901		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110422901G>A	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1412C>T	6.37:g.110422901G>A	ENSP00000376368:p.Pro471Leu		Somatic				WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L	p.P471L	NM_003931.2	NP_003922.1	WXS	Illumina GAIIx	Phase_I	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2248	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	471					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1412C>T	CCDS5080.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.12	3.552522	0.65425	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.86	5.86	0.93980	.	0.311397	0.40469	N	0.001096	T	0.17195	0.0413	N	0.08118	0	0.58432	D	0.999991	B	0.25667	0.131	B	0.21546	0.035	T	0.06698	-1.0812	10	0.24483	T	0.36	.	18.3575	0.90362	0.0:0.0:1.0:0.0	.	471	Q92558	WASF1_HUMAN	L	471	ENSP00000376365:P471L;ENSP00000376366:P471L;ENSP00000376368:P471L;ENSP00000376367:P471L;ENSP00000352425:P471L	ENSP00000352425:P471L	P	-	2	0	WASF1	110529594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.333000	0.72939	2.773000	0.95371	0.655000	0.94253	CCT		0.517	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		8	160	8	160	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123269330	123269330	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr7:123269330G>A	ENST00000451558.1	+	12	1803	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N|ASB15_ENST00000451215.1_Missense_Mutation_p.D428N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	428					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCTCTAAACGACGAGGTAAT	0.418																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1282-1284)Gac>Aac		ankyrin repeat and SOCS box containing 15							191.0	175.0	180.0					7																	123269330		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269330G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1282G>A	7.37:g.123269330G>A	ENSP00000397655:p.Asp428Asn		Somatic				ASB15_ENST00000451215.1_Missense_Mutation_p.D428N|ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N	p.D428N			WXS	Illumina GAIIx	Phase_I	Q8WXK1	ASB15_HUMAN			12	1803	+			428					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1282G>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245712	0.80024	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	6.17	6.17	0.99709	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73164	-0.4069	10	0.09843	T	0.71	-21.6017	20.8794	0.99867	0.0:0.0:1.0:0.0	.	428	Q8WXK1	ASB15_HUMAN	N	428;428;428;428;217;428	ENSP00000397655:D428N;ENSP00000390963:D428N;ENSP00000416433:D428N;ENSP00000438643:D428N;ENSP00000275699:D428N	ENSP00000275699:D428N	D	+	1	0	ASB15	123056566	1.000000	0.71417	0.982000	0.44146	0.549000	0.35272	9.379000	0.97198	2.941000	0.99782	0.655000	0.94253	GAC		0.418	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			4	280	4	280	---	---	---	---
MORN4	118812	broad.mit.edu	37	10	99376044	99376044	+	Silent	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr10:99376044C>T	ENST00000307450.6	-	5	580	c.417G>A	c.(415-417)aaG>aaA	p.K139K	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000335628.3_Silent_p.K197K|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	139										large_intestine(1)|lung(1)|stomach(2)	4						TTCTGGCTGACTTGGAGGCGC	0.527																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(589-591)aaG>aaA		MORN repeat containing 4							60.0	58.0	59.0					10																	99376044		2203	4300	6503	SO:0001819	synonymous_variant	118812							g.chr10:99376044C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.417G>A	10.37:g.99376044C>T			Somatic				PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000307450.6_Silent_p.K139K|MORN4_ENST00000478953.1_3'UTR	p.K197K			WXS	Illumina GAIIx	Phase_I	Q8NDC4	MORN4_HUMAN			4	590	-			139					Q86Y54	Silent	SNP	ENST00000307450.6	37	c.591G>A	CCDS7468.1																																																																																				0.527	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		7	54	7	54	---	---	---	---
FEN1	2237	broad.mit.edu	37	11	61563274	61563274	+	Silent	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563274C>T	ENST00000305885.2	+	2	854	c.441C>T	c.(439-441)ctC>ctT	p.L147L	TMEM258_ENST00000543510.1_5'Flank|FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGCTGAGCCTCATGGGCATCC	0.567								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(439-441)ctC>ctT	Editing and processing nucleases	flap structure-specific endonuclease 1							54.0	55.0	55.0					11																	61563274		2202	4299	6501	SO:0001819	synonymous_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563274C>T	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.441C>T	11.37:g.61563274C>T			Somatic				FADS2_ENST00000574708.1_Intron	p.L147L	NM_004111.5	NP_004102.1	WXS	Illumina GAIIx	Phase_I	P39748	FEN1_HUMAN			2	854	+			147			I-domain.			Silent	SNP	ENST00000305885.2	37	c.441C>T	CCDS8010.1																																																																																				0.567	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		8	101	8	101	---	---	---	---
FEN1	2237	broad.mit.edu	37	11	61563280	61563280	+	Silent	SNP	C	C	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563280C>A	ENST00000305885.2	+	2	860	c.447C>A	c.(445-447)ggC>ggA	p.G149G	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCCTCATGGGCATCCCTTATC	0.567								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(445-447)ggC>ggA	Editing and processing nucleases	flap structure-specific endonuclease 1							56.0	57.0	57.0					11																	61563280		2202	4299	6501	SO:0001819	synonymous_variant	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563280C>A	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.447C>A	11.37:g.61563280C>A			Somatic				FADS2_ENST00000574708.1_Intron	p.G149G	NM_004111.5	NP_004102.1	WXS	Illumina GAIIx	Phase_I	P39748	FEN1_HUMAN			2	860	+			149			I-domain.			Silent	SNP	ENST00000305885.2	37	c.447C>A	CCDS8010.1																																																																																				0.567	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		9	95	9	95	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21624014	21624014	+	Silent	SNP	C	C	G			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr14:21624014C>G	ENST00000304418.3	-	1	208	c.171G>C	c.(169-171)ctG>ctC	p.L57L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCCCTTGGCTCAGGTTTGCCC	0.552																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(169-171)ctG>ctC		olfactory receptor, family 5, subfamily AU, member 1							148.0	123.0	131.0					14																	21624014		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624014C>G	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.171G>C	14.37:g.21624014C>G			Somatic					p.L57L	NM_001004731.1	NP_001004731.1	WXS	Illumina GAIIx	Phase_I	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	208	-	all_cancers(95;0.00238)		57					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.171G>C	CCDS32042.1																																																																																				0.552	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			4	99	4	99	---	---	---	---
AURKB	9212	broad.mit.edu	37	17	8110638	8110638	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:8110638T>G	ENST00000585124.1	-	5	347	c.254A>C	c.(253-255)aAa>aCa	p.K85T	AURKB_ENST00000535053.1_Missense_Mutation_p.K86T|AURKB_ENST00000316199.6_Missense_Mutation_p.K86T|AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						AAACTTGCCTTTGCCCAGAGG	0.502																																					NSCLC(134;1161 2470 43664 51568)	ENST00000316199.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(256-258)aAa>aCa		aurora kinase B							76.0	68.0	71.0					17																	8110638		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8110638T>G	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.254A>C	17.37:g.8110638T>G	ENSP00000463999:p.Lys85Thr		Somatic				AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000585124.1_Missense_Mutation_p.K85T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T	p.K86T	NM_001284526.1	NP_001271455.1	WXS	Illumina GAIIx	Phase_I	Q96GD4	AURKB_HUMAN			5	334	-			85			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.257A>C	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.442284	0.43326	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.66460	-0.21;-0.21	5.16	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.45051	1.395	0.58432	D	0.999993	P;P	0.37955	0.612;0.612	B;B	0.37601	0.254;0.254	T	0.58025	-0.7709	10	0.59425	D	0.04	-15.2863	9.2134	0.37333	0.0:0.0859:0.0:0.9141	.	85;85	C7G533;Q96GD4	.;AURKB_HUMAN	T	85;44;86	ENSP00000443869:K44T;ENSP00000445866:K86T	ENSP00000313950:K85T	K	-	2	0	AURKB	8051363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	0.982000	0.38575	0.533000	0.62120	AAA		0.502	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		5	50	5	50	---	---	---	---
MEOX1	4222	broad.mit.edu	37	17	41720986	41720986	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:41720986G>C	ENST00000318579.4	-	2	931	c.512C>G	c.(511-513)gCc>gGc	p.A171G	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	171					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCCTTGCGGGCTTTGCTGCT	0.577																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(511-513)gCc>gGc		mesenchyme homeobox 1							62.0	51.0	55.0					17																	41720986		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41720986G>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.512C>G	17.37:g.41720986G>C	ENSP00000321684:p.Ala171Gly		Somatic				MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G|MEOX1_ENST00000329168.3_Intron	p.A171G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	WXS	Illumina GAIIx	Phase_I	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	2	931	-		Breast(137;0.00908)	171					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.512C>G	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194058	0.58017	.	.	ENSG00000005102	ENST00000318579;ENST00000393661	D;D	0.95588	-3.75;-3.64	3.7	3.7	0.42460	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.129722	0.51477	D	0.000093	D	0.91327	0.7265	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.88215	0.2893	10	0.34782	T	0.22	-17.2644	15.5985	0.76606	0.0:0.0:1.0:0.0	.	171	P50221	MEOX1_HUMAN	G	171;56	ENSP00000321684:A171G;ENSP00000377271:A56G	ENSP00000321684:A171G	A	-	2	0	MEOX1	39076512	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.218000	0.77991	1.905000	0.55150	0.491000	0.48974	GCC		0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			4	24	4	24	---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6743220	6743221	+	Frame_Shift_Ins	INS	-	-	G	rs147776897|rs375676701		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr19:6743220_6743221insG	ENST00000313244.9	+	5	396_397	c.361_362insG	c.(361-363)cggfs	p.R121fs	TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000600428.1_Frame_Shift_Ins_p.R13fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	121	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R121L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCAAGAAGGGCGGCGGGCCCAG	0.559																																						ENST00000600428.1																			1	Substitution - Missense(1)	p.R121L(1)	NS(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(37-39)cggfs		thyroid hormone receptor interactor 10																																				SO:0001589	frameshift_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743220_6743221insG	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.363dupG	19.37:g.6743222_6743222dupG	ENSP00000320117:p.Arg121fs		Somatic				TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000313244.9_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.R121fs	p.R13fs			WXS	Illumina GAIIx	Phase_I	Q15642	CIP4_HUMAN			5	683_684	+			121			FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Ins	INS	ENST00000313244.9	37	c.37_38insG																																																																																					0.559	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			7	82	7	82	---	---	---	---
