#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDHA1	56147	broad.mit.edu	37	5	140167696	140167696	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr5:140167696G>A	ENST00000504120.2	+	1	1821	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L607L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGTGGCTGTCCTATGAAC	0.672																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1819-1821)ctG>ctA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							85.0	85.0	85.0					5																	140167696		2203	4299	6502	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167696G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1821G>A	5.37:g.140167696G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.L607L	p.L607L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1821	+			620			Cadherin 6.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1821G>A	CCDS54913.1																																																																																				0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	199	0	0	0	1	0	4	199				
CD163	9332	broad.mit.edu	37	12	7649609	7649609	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr12:7649609G>A	ENST00000359156.4	-	5	1101	c.899C>T	c.(898-900)gCt>gTt	p.A300V	CD163_ENST00000432237.2_Missense_Mutation_p.A300V|CD163_ENST00000396620.3_Missense_Mutation_p.A300V|CD163_ENST00000541972.1_Missense_Mutation_p.A288V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	300	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCCACAGCAGCATCGTAACT	0.498																																						uc001qsz.3																			0		p.D299H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(898-900)gCt>gTt		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							192.0	143.0	159.0					12																	7649609		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649609G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.899C>T	12.37:g.7649609G>A	ENSP00000352071:p.Ala300Val					CD163_uc001qta.3_Missense_Mutation_p.A300V|CD163_uc009zfw.2_Missense_Mutation_p.A300V	p.A300V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			4	1027	-			300			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.899C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118289	0.56505	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.86	3.97	0.46021	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.075154	0.56097	D	0.000039	T	0.66771	0.2823	M	0.82056	2.57	0.46542	D	0.999099	D;P;D	0.89917	1.0;0.923;1.0	D;B;D	0.79784	0.993;0.397;0.993	T	0.67360	-0.5690	10	0.39692	T	0.17	.	11.2623	0.49091	0.0908:0.0:0.9092:0.0	.	300;300;300	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	300;288;300;300	ENSP00000352071:A300V;ENSP00000444071:A288V;ENSP00000379863:A300V;ENSP00000403885:A300V	ENSP00000352071:A300V	A	-	2	0	CD163	7540876	1.000000	0.71417	0.809000	0.32408	0.322000	0.28314	5.408000	0.66368	1.199000	0.43173	0.456000	0.33151	GCT		0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	129	0	0	0	1	0	3	129				
TPPP3	51673	broad.mit.edu	37	16	67424874	67424874	+	Silent	SNP	T	T	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:67424874T>A	ENST00000564104.1	-	1	982	c.141A>T	c.(139-141)ggA>ggT	p.G47G	TPPP3_ENST00000393957.2_Silent_p.G47G|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000562206.1_Silent_p.G47G|TPPP3_ENST00000290942.5_Silent_p.G47G			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	47					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCACGGACTTTCCGTCAGCCA	0.572																																						uc002esz.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(139-141)ggA>ggT		Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.							151.0	115.0	127.0					16																	67424874		2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424874T>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.141A>T	16.37:g.67424874T>A						TPPP3_uc002etb.3_Silent_p.G47G|TPPP3_uc002eta.3_Silent_p.G47G|U1_uc021tkb.1_5'Flank	p.G47G	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	0	976	-		Ovarian(137;0.0563)	47					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.141A>T	CCDS10835.1																																																																																				0.572	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		23	76	0	0	0	1	0	23	76				
STRIP2	57464	broad.mit.edu	37	7	129102860	129102860	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:129102860G>A	ENST00000249344.2	+	14	1570	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	STRIP2_ENST00000435494.2_Silent_p.L510L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	510					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGGAATGCTGTACAGCCTTC	0.507																																						uc011koy.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1528-1530)ctG>ctA		Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.							99.0	88.0	92.0					7																	129102860		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129102860G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1530G>A	7.37:g.129102860G>A						FAM40B_uc003vow.3_Silent_p.L510L|FAM40B_uc011koz.2_Silent_p.L2L	p.L510L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			13	1570	+			510					Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1530G>A	CCDS34752.1																																																																																				0.507	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	83	0	0	0	1	0	4	83				
CSF3R	1441	broad.mit.edu	37	1	36941036	36941036	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:36941036G>A	ENST00000373106.1	-	4	850	c.303C>T	c.(301-303)tgC>tgT	p.C101C	CSF3R_ENST00000331941.5_Silent_p.C101C|CSF3R_ENST00000440588.2_Silent_p.C101C|CSF3R_ENST00000418048.2_Silent_p.C101C|CSF3R_ENST00000338937.5_Silent_p.C101C|CSF3R_ENST00000373104.1_Silent_p.C101C|CSF3R_ENST00000361632.4_Silent_p.C101C|CSF3R_ENST00000373103.1_Silent_p.C101C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	101	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTCAGGCAGCAGGAGAGAA	0.607																																						uc001cax.2																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(301-303)tgC>tgT		Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						103.0	85.0	91.0					1																	36941036		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941036G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.303C>T	1.37:g.36941036G>A						CSF3R_uc001cav.2_Silent_p.C101C|CSF3R_uc001caw.2_Silent_p.C101C	p.C101C	NM_156039	NP_724781	Q99062	CSF3R_HUMAN			3	887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	101			Ig-like C2-type.			Silent	SNP	ENST00000373106.1	37	c.303C>T	CCDS413.1																																																																																				0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		4	153	0	0	0	1	0	4	153				
KDM8	79831	broad.mit.edu	37	16	27230341	27230341	+	Silent	SNP	G	G	A	rs549622164		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:27230341G>A	ENST00000286096.4	+	6	1076	c.903G>A	c.(901-903)gaG>gaA	p.E301E	KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.E339E|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000568965.1_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	301	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GCGATGGGGAGGAGGAGGAAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17241	0.0		0.0	False		,,,				2504	0.0					uc010vcn.1																			0											c.(1015-1017)gaG>gaA		Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.							174.0	135.0	148.0					16																	27230341		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27230341G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.903G>A	16.37:g.27230341G>A						KDM8_uc002doh.2_Silent_p.E301E|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	p.E339E	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN			5	1135	+			301			JmjC.		B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.1017G>A	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		4	139	0	0	0	1	0	4	139				
BAG2	9532	broad.mit.edu	37	6	57037528	57037528	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:57037528C>G	ENST00000370693.5	+	1	405	c.33C>G	c.(31-33)aaC>aaG	p.N11K	RP11-203B9.4_ENST00000588819.1_RNA|RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592785.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586234.1_RNA|RP11-203B9.4_ENST00000590164.1_RNA|RP11-203B9.4_ENST00000589312.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589394.1_RNA|BAG2_ENST00000545080.1_5'Flank|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	11					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTAAAGCCAACGAGGGGCGCT	0.687																																						uc003pdr.3																			0				endometrium(1)|large_intestine(1)	2						c.(31-33)aaC>aaG		Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.							33.0	29.0	30.0					6																	57037528		2200	4297	6497	SO:0001583	missense	9532				apoptosis|protein folding		protein binding	g.chr6:57037528C>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.33C>G	6.37:g.57037528C>G	ENSP00000359727:p.Asn11Lys					BC032020_uc003pdq.1_5'Flank|BAG2_uc011dxo.2_5'Flank	p.N11K	NM_004282	NP_004273	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		0	425	+	Lung NSC(77;0.126)		11					B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	c.33C>G	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100264	0.37048	.	.	ENSG00000112208	ENST00000370693	.	.	.	4.89	3.11	0.35812	.	0.146062	0.64402	D	0.000014	T	0.22742	0.0549	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21759	-1.0236	9	0.06099	T	0.92	-8.6895	10.7814	0.46379	0.0:0.8417:0.0:0.1583	.	11	O95816	BAG2_HUMAN	K	11	.	ENSP00000359727:N11K	N	+	3	2	BAG2	57145487	1.000000	0.71417	0.896000	0.35187	0.841000	0.47740	0.956000	0.29202	0.471000	0.27319	0.467000	0.42956	AAC		0.687	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			6	5	0	0	0	1	0	6	5				
SCN1B	6324	broad.mit.edu	37	19	35523482	35523482	+	Missense_Mutation	SNP	G	G	A	rs368129661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:35523482G>A	ENST00000262631.5	+	2	228	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.V31M|SCN1B_ENST00000415950.3_Missense_Mutation_p.V31M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	31	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GACCGAGGCCGTGTATGGGAT	0.622																																						uc002nxo.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(91-93)Gtg>Atg		Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	130.0	125.0	127.0		91,91	3.8	1.0	19		127	0,8600		0,0,4300	no	missense,missense	SCN1B	NM_001037.4,NM_199037.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	31/219,31/269	35523482	1,13005	2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523482G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.91G>A	19.37:g.35523482G>A	ENSP00000262631:p.Val31Met					SCN1B_uc002nxp.3_Missense_Mutation_p.V31M|SCN1B_uc010xsg.2_Missense_Mutation_p.V31M	p.V31M	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		1	224	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		31			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.91G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343136	0.61073	2.27E-4	0.0	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94758	-3.51;-3.51	3.82	3.82	0.43975	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.95999	0.8697	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.927;0.988;0.999	D	0.95842	0.8867	10	0.72032	D	0.01	-29.9484	11.0836	0.48074	0.0:0.0:1.0:0.0	.	31;31;31	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	M	31	ENSP00000262631:V31M;ENSP00000396915:V31M	ENSP00000262631:V31M	V	+	1	0	SCN1B	40215322	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	8.413000	0.90235	1.969000	0.57287	0.563000	0.77884	GTG		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			4	201	0	0	0	1	0	4	201				
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						uc003eao.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)cTt>cCt		Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.							219.0	201.0	207.0					3																	113505224		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224T>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	3.37:g.113505224T>C	ENSP00000273398:p.Leu237Pro					ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	p.L237P	NM_001690	NP_001681	P38606	VATA_HUMAN			5	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.710T>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		3	263	0	0	0	1	0	3	263				
CHAF1A	10036	broad.mit.edu	37	19	4433112	4433112	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:4433112G>A	ENST00000301280.5	+	13	2350	c.2249G>A	c.(2248-2250)aGc>aAc	p.S750N	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	750	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACGGGAGCAAGGTCATC	0.667								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2248-2250)aGc>aAc	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.							24.0	24.0	24.0					19																	4433112		2199	4299	6498	SO:0001583	missense	10036				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433112G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2249G>A	19.37:g.4433112G>A	ENSP00000301280:p.Ser750Asn						p.S750N	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2349	+		Hepatocellular(1079;0.137)	750			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2249G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165949	0.78339	.	.	ENSG00000167670	ENST00000535117;ENST00000301280	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.38612	0.1047	L	0.55103	1.725	0.54753	D	0.999985	P	0.40660	0.726	B	0.43386	0.418	T	0.30851	-0.9964	9	0.87932	D	0	-38.5057	18.0297	0.89279	0.0:0.0:1.0:0.0	.	750	Q13111	CAF1A_HUMAN	N	750	ENSP00000301280:S750N	ENSP00000301280:S750N	S	+	2	0	CHAF1A	4384112	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.119000	0.71590	2.485000	0.83878	0.655000	0.94253	AGC		0.667	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		3	40	0	0	0	1	0	3	40				
PPP1R13L	10848	broad.mit.edu	37	19	45901354	45901354	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:45901354G>A	ENST00000418234.2	-	3	185	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A36V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	36					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCTTGGCCGCCGCCGTGTC	0.652																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(106-108)gCg>gTg		Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.							55.0	55.0	55.0					19																	45901354		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901354G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.107C>T	19.37:g.45901354G>A	ENSP00000403902:p.Ala36Val					PPP1R13L_uc002pbo.3_Missense_Mutation_p.A36V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A36V	p.A36V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	184	-		all_neural(266;0.224)|Ovarian(192;0.231)	36					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.107C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758763	0.69763	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.31	2.17	0.27698	.	0.549764	0.19686	N	0.108386	T	0.28333	0.0700	L	0.27053	0.805	0.26311	N	0.97782	P;B	0.45902	0.868;0.014	B;B	0.24269	0.052;0.002	T	0.21381	-1.0247	10	0.14252	T	0.57	.	6.6105	0.22749	0.2208:0.0:0.7792:0.0	.	36;36	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	36	ENSP00000403902:A36V;ENSP00000354218:A36V	ENSP00000354218:A36V	A	-	2	0	PPP1R13L	50593194	0.898000	0.30612	0.957000	0.39632	0.927000	0.56198	1.607000	0.36836	0.569000	0.29329	0.563000	0.77884	GCG		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		3	117	0	0	0	1	0	3	117				
SYTL4	94121	broad.mit.edu	37	X	99955909	99955909	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chrX:99955909G>A	ENST00000372989.1	-	7	854	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	SYTL4_ENST00000263033.5_Missense_Mutation_p.R175W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175W|SYTL4_ENST00000372981.1_Missense_Mutation_p.R175W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R175W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCTTCTGCCGCTCCTGAATG	0.388																																						uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(523-525)Cgg>Tgg		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						130.0	117.0	121.0					X																	99955909		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99955909G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.523C>T	X.37:g.99955909G>A	ENSP00000362080:p.Arg175Trp					SYTL4_uc010nnc.3_Missense_Mutation_p.R175W|SYTL4_uc004ege.4_Missense_Mutation_p.R175W|SYTL4_uc004egf.4_Missense_Mutation_p.R175W|SYTL4_uc004egg.4_Missense_Mutation_p.R175W	p.R175W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			6	879	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.523C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.682548	0.29872	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.64803	2.01;2.01;2.0;2.01;2.01;-0.12	5.78	5.78	0.91487	.	0.462954	0.25708	N	0.028821	T	0.57051	0.2027	N	0.14661	0.345	0.31079	N	0.712174	D;D	0.69078	0.997;0.971	P;B	0.52856	0.711;0.216	T	0.59883	-0.7370	9	.	.	.	-6.1752	16.7516	0.85488	0.0:0.0:1.0:0.0	.	175;175	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	175	ENSP00000362080:R175W;ENSP00000390252:R175W;ENSP00000403556:R175W;ENSP00000276141:R175W;ENSP00000263033:R175W;ENSP00000362072:R175W	.	R	-	1	2	SYTL4	99842565	0.997000	0.39634	0.703000	0.30354	0.009000	0.06853	4.136000	0.58004	2.432000	0.82394	0.591000	0.81541	CGG		0.388	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		17	206	0	0	0	1	0	17	206				
SCAMP2	10066	broad.mit.edu	37	15	75137837	75137837	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:75137837G>A	ENST00000268099.9	-	8	941	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank|ULK3_ENST00000569437.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	278					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAGACTGAGAGCACGGCACAG	0.562																																						uc002azb.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(832-834)Ctc>Ttc		Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.							137.0	119.0	125.0					15																	75137837		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75137837G>A	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.832C>T	15.37:g.75137837G>A	ENSP00000268099:p.Leu278Phe					ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.L128F	p.L278F	NM_005697	NP_005688	O15127	SCAM2_HUMAN			7	906	-			278					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.832C>T	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885225	0.51908	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.20200	2.09	4.91	4.91	0.64330	.	0.134025	0.52532	D	0.000080	T	0.18215	0.0437	L	0.38649	1.16	0.52099	D	0.999948	B;B	0.25007	0.02;0.116	B;B	0.33750	0.071;0.169	T	0.07083	-1.0791	10	0.17369	T	0.5	.	10.7117	0.45988	0.0871:0.0:0.9129:0.0	.	278;247	O15127;B3KU14	SCAM2_HUMAN;.	F	278;247	ENSP00000268099:L278F	ENSP00000268099:L278F	L	-	1	0	SCAMP2	72924890	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.866000	0.56040	2.273000	0.75805	0.585000	0.79938	CTC		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		4	283	0	0	0	1	0	4	283				
RNF146	81847	broad.mit.edu	37	6	127608035	127608036	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608035_127608036GA>CT	ENST00000368314.1	+	3	701_702	c.277_278GA>CT	c.(277-279)GAa>CTa	p.E93L	RNF146_ENST00000610153.1_Missense_Mutation_p.E93L|RNF146_ENST00000608991.1_Missense_Mutation_p.E92L|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.E92L|RNF146_ENST00000476956.1_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	93	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTCACCAGAAGAACTCAAGGCA	0.46																																						uc021zes.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(277-279)gaa>CTa		Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.																																				SO:0001583	missense	81847				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608035_127608036GA>CT	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	Exception_encountered	6.37:g.127608035_127608036delinsCT	ENSP00000357297:p.Glu93Leu					RNF146_uc021zet.1_Missense_Mutation_p.E92L|RNF146_uc021zeu.1_Missense_Mutation_p.E92L|RNF146_uc021zev.1_Missense_Mutation_p.E92L|RNF146_uc021zew.1_Missense_Mutation_p.E93L|RNF146_uc003qat.3_Missense_Mutation_p.E92L|RNF146_uc021zex.1_Missense_Mutation_p.E92L|RNF146_uc003qaw.3_Missense_Mutation_p.E92L|RNF146_uc003qau.3_Missense_Mutation_p.E92L|RNF146_uc003qav.3_Missense_Mutation_p.E93L|RNF146_uc021zey.1_Missense_Mutation_p.E92L	p.E93L	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	2	413_414	+			93			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	DNP	ENST00000368314.1	37	c.277_278GA>CT	CCDS56449.1																																																																																				0.460	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		26	33	0	0	0	1	0	26	33				
MKL1	57591	broad.mit.edu	37	22	40805710	40805710	+	IGR	SNP	G	G	A	rs199770532		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr22:40805710G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.V733I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAAGGAGGGCGTCCGGGACAT	0.662			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2197-2199)Gtc>Atc		Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.			ILE/VAL	0,4406		0,0,2203	88.0	91.0	90.0		2197	4.8	0.8	22		90	2,8598	1.2+/-3.3	0,2,4298	yes	missense	SGSM3	NM_015705.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	733/750	40805710	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	27352				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805710G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805710G>A						SGSM3_uc011aot.1_Missense_Mutation_p.V644I	p.V733I	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			21	2406	+			733					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2197G>A	CCDS14003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.10|16.10	3.028398|3.028398	0.54790|0.54790	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100359|ENSG00000100359	ENST00000417424|ENST00000248929	.|T	.|0.16597	.|2.33	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.996;0.979	.|P;P;P	.|0.60541	.|0.572;0.876;0.638	T|T	0.10823|0.10823	-1.0613|-1.0613	5|10	.|0.72032	.|D	.|0.01	.|.	18.3415|18.3415	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|644;761;733	.|B4DVE3;Q96HU1-2;Q96HU1	.|.;.;SGSM3_HUMAN	H|I	85|733	.|ENSP00000248929:V733I	.|ENSP00000248929:V733I	R|V	+|+	2|1	0|0	SGSM3|SGSM3	39135656|39135656	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.141000|0.141000	0.21300|0.21300	7.138000|7.138000	0.77305|0.77305	2.410000|2.410000	0.81850|0.81850	0.558000|0.558000	0.71614|0.71614	CGT|GTC		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	169	0	0	0	1	0	4	169				
SUPT6H	6830	broad.mit.edu	37	17	27020729	27020729	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:27020729G>C	ENST00000314616.6	+	28	3932	c.3649G>C	c.(3649-3651)Gac>Cac	p.D1217H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1217H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1217	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCACTTTGACAGCGGTTC	0.502																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3649-3651)Gac>Cac		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							117.0	103.0	108.0					17																	27020729		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27020729G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3649G>C	17.37:g.27020729G>C	ENSP00000319104:p.Asp1217His					SUPT6H_uc002hby.3_Missense_Mutation_p.D1217H	p.D1217H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			28	3841	+	Lung NSC(42;0.00431)		1217			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3649G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856715	0.91433	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.73598	2.24	0.80722	D	1	D	0.58620	0.983	P	0.49085	0.6	T	0.76342	-0.2994	9	0.87932	D	0	-27.8683	20.0989	0.97860	0.0:0.0:1.0:0.0	.	1217	Q7KZ85	SPT6H_HUMAN	H	1217	.	ENSP00000319104:D1217H	D	+	1	0	SUPT6H	24044856	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.121000	0.94375	2.764000	0.94973	0.650000	0.86243	GAC		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		25	78	0	0	0	1	0	25	78				
PROM2	150696	broad.mit.edu	37	2	95947921	95947921	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:95947921G>A	ENST00000317620.9	+	14	1808	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	PROM2_ENST00000542147.1_Missense_Mutation_p.V559I|PROM2_ENST00000317668.4_Missense_Mutation_p.V559I|PROM2_ENST00000403131.2_Missense_Mutation_p.V559I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	559					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTCTGGACAGTCCTGCAGCT	0.617																																						uc002suk.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1675-1677)Gtc>Atc		Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.							55.0	49.0	51.0					2																	95947921		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947921G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1675G>A	2.37:g.95947921G>A	ENSP00000318270:p.Val559Ile					PROM2_uc002suh.2_Missense_Mutation_p.V559I|PROM2_uc002sui.3_Missense_Mutation_p.V559I|PROM2_uc002suj.3_Missense_Mutation_p.V213I|PROM2_uc002sul.3_Missense_Mutation_p.V85I|PROM2_uc002sum.3_Non-coding_Transcript	p.V559I	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN			13	1808	+			559					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1675G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484447	0.84854	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000016	T	0.68284	0.2984	M	0.79475	2.455	0.39874	D	0.973548	D	0.89917	1.0	D	0.91635	0.999	T	0.70648	-0.4814	10	0.42905	T	0.14	-33.9211	14.2782	0.66194	0.0:0.0:1.0:0.0	.	559	Q8N271	PROM2_HUMAN	I	559	ENSP00000385716:V559I;ENSP00000318520:V559I;ENSP00000318270:V559I;ENSP00000442542:V559I	ENSP00000318270:V559I	V	+	1	0	PROM2	95311648	0.980000	0.34600	0.938000	0.37757	0.990000	0.78478	2.330000	0.43885	2.434000	0.82447	0.561000	0.74099	GTC		0.617	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	51	0	0	0	1	0	3	51				
ARHGEF10L	55160	broad.mit.edu	37	1	18014116	18014116	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:18014116G>T	ENST00000361221.3	+	27	3217	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V1015L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V793L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V723L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1020						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACACACATGGTGAAGGCGGG	0.622																																						uc001ban.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3058-3060)Gtg>Ttg		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							92.0	80.0	84.0					1																	18014116		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18014116G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3058G>T	1.37:g.18014116G>T	ENSP00000355060:p.Val1020Leu					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V981L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V981L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V976L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V781L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V793L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V723L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	p.V1020L	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	26	3217	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1020					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3058G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158408	0.57368	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.62941	1.48;1.48;-0.01;1.48;1.48;1.48	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.206543	0.34986	N	0.003529	T	0.67239	0.2872	M	0.79926	2.475	0.41863	D	0.990233	P;P;P;B;P;P;P	0.44946	0.761;0.802;0.749;0.371;0.846;0.798;0.696	B;P;B;B;B;B;B	0.45343	0.21;0.477;0.318;0.153;0.379;0.409;0.232	T	0.73065	-0.4100	10	0.59425	D	0.04	-18.9479	11.0755	0.48030	0.0913:0.0:0.9087:0.0	.	793;1015;723;781;976;981;1020	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	L	1020;981;1015;981;793;793;723	ENSP00000355060:V1020L;ENSP00000399401:V981L;ENSP00000394621:V1015L;ENSP00000364564:V981L;ENSP00000364557:V793L;ENSP00000167825:V723L	ENSP00000167825:V723L	V	+	1	0	ARHGEF10L	17886703	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.190000	0.65104	2.203000	0.70933	0.561000	0.74099	GTG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		38	39	0	0	0	1	0	38	39				
MAP3K13	9175	broad.mit.edu	37	3	185146741	185146741	+	Silent	SNP	C	C	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:185146741C>A	ENST00000265026.3	+	2	706	c.372C>A	c.(370-372)ggC>ggA	p.G124G	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G124G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAGGTCAGGCAGTGGCAGTG	0.488																																						uc010hyf.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(370-372)ggC>ggA		Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.							94.0	94.0	94.0					3																	185146741		2203	4300	6503	SO:0001819	synonymous_variant	9175				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	g.chr3:185146741C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.372C>A	3.37:g.185146741C>A						MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G124G|MAP3K13_uc010hyg.3_5'UTR	p.G124G	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	663	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		124						Silent	SNP	ENST00000265026.3	37	c.372C>A	CCDS3270.1																																																																																				0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		3	102	0	0	0	1	0	3	102				
ACE	1636	broad.mit.edu	37	17	61566087	61566087	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:61566087G>A	ENST00000290866.4	+	16	2408	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	ACE_ENST00000490216.2_Missense_Mutation_p.G221E|ACE_ENST00000421982.2_Missense_Mutation_p.G105E|ACE_ENST00000428043.1_Missense_Mutation_p.G795E|ACE_ENST00000290863.6_Missense_Mutation_p.G221E|ACE_ENST00000413513.3_Missense_Mutation_p.G221E|ACE_ENST00000577647.1_Missense_Mutation_p.G221E	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	795	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGGCGGGGAGAGCCATC	0.557																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(2383-2385)gGg>gAg		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						120.0	106.0	111.0					17																	61566087		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566087G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2384G>A	17.37:g.61566087G>A	ENSP00000290866:p.Gly795Glu					ACE_uc010wpj.2_Missense_Mutation_p.G221E|ACE_uc010ddv.2_Missense_Mutation_p.G22E|ACE_uc002jav.2_Missense_Mutation_p.G221E|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.G105E	p.G795E	NM_000789	NP_000780	P12821	ACE_HUMAN			15	2418	+			795			Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2384G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864849	0.32977	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;1.18	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	H	0.97440	4.005	0.39222	D	0.963523	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.998;1.0	D	0.89300	0.3625	10	0.87932	D	0	-48.9288	18.5243	0.90965	0.0:0.0:1.0:0.0	.	105;221;221;795	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	E	795;795;221;221;105	ENSP00000290866:G795E;ENSP00000397593:G795E;ENSP00000290863:G221E;ENSP00000392247:G221E;ENSP00000387760:G105E	ENSP00000290863:G221E	G	+	2	0	ACE	58919819	1.000000	0.71417	0.971000	0.41717	0.014000	0.08584	8.234000	0.89801	2.815000	0.96918	0.561000	0.74099	GGG		0.557	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			3	148	0	0	0	1	0	3	148				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	72	0	0	0	1	0	45	72				
GUK1	2987	broad.mit.edu	37	1	228335126	228335126	+	Missense_Mutation	SNP	G	G	A	rs200469661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:228335126G>A	ENST00000366718.1	+	5	698	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	GUK1_ENST00000366730.1_Missense_Mutation_p.V91M|GUK1_ENST00000312726.4_Missense_Mutation_p.V91M|GUK1_ENST00000366716.1_Missense_Mutation_p.V91M|GUK1_ENST00000366726.1_Missense_Mutation_p.V91M|GUK1_ENST00000391865.3_Missense_Mutation_p.V112M|GUK1_ENST00000366723.1_Missense_Mutation_p.V112M|GUK1_ENST00000366721.1_Missense_Mutation_p.V93M|GUK1_ENST00000470040.1_3'UTR|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366728.2_Missense_Mutation_p.V112M|GUK1_ENST00000366722.1_Missense_Mutation_p.V91M	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	91	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGCAGGCCGTGCAGGCCAT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16746	0.001		0.0	False		,,,				2504	0.0					uc021pkf.1																			0				endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9						c.(334-336)Gtg>Atg		Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.							85.0	76.0	79.0					1																	228335126		2203	4300	6503	SO:0001583	missense	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228335126G>A	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.271G>A	1.37:g.228335126G>A	ENSP00000355679:p.Val91Met					GUK1_uc021pke.1_Missense_Mutation_p.V91M|GUK1_uc001hsj.3_Missense_Mutation_p.V31M|GUK1_uc001hsh.3_Missense_Mutation_p.V91M|GUK1_uc001hsi.3_Missense_Mutation_p.V112M|GUK1_uc010pvv.2_Missense_Mutation_p.V91M|GJC2_uc001hsk.3_5'Flank	p.V112M	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN			4	409	+		Prostate(94;0.0405)	91			Guanylate kinase-like.		B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	37	c.334G>A	CCDS1568.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.3	4.135296	0.77662	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.96	4.96	0.65561	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.64260	1.97	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.70285	-0.4914	10	0.87932	D	0	.	18.0194	0.89251	0.0:0.0:1.0:0.0	.	112;91	B4E1H6;Q16774	.;KGUA_HUMAN	M	91;112;91;91;112;112;112;91;157;93;157;91;91;94	ENSP00000355691:V91M;ENSP00000375738:V112M;ENSP00000355687:V91M;ENSP00000317659:V91M;ENSP00000355689:V112M;ENSP00000401832:V112M;ENSP00000355684:V112M;ENSP00000355683:V91M;ENSP00000403664:V157M;ENSP00000355682:V93M;ENSP00000407604:V157M;ENSP00000355679:V91M;ENSP00000355677:V91M	ENSP00000317659:V91M	V	+	1	0	GUK1	226401749	1.000000	0.71417	0.909000	0.35828	0.774000	0.43823	3.492000	0.53259	2.570000	0.86706	0.557000	0.71058	GTG		0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858		4	157	0	0	0	1	0	4	157				
VPS33B	26276	broad.mit.edu	37	15	91565471	91565471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:91565471delA	ENST00000333371.3	-	1	362	c.9delT	c.(7-9)tttfs	p.F3fs	AC068831.10_ENST00000417221.4_RNA|AC068831.10_ENST00000557804.1_RNA|AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA|VPS33B_ENST00000535906.1_Frame_Shift_Del_p.F3fs|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	3					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCGATGGGGAAAAGCCATGG	0.652																																						uc002bqp.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(7-9)tttfs		Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.							17.0	15.0	16.0					15																	91565471		2187	4286	6473	SO:0001589	frameshift_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91565471delA	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.9delT	15.37:g.91565471delA	ENSP00000327650:p.Phe3fs					VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Frame_Shift_Del_p.F3fs|AK055351_uc002bqr.2_5'Flank	p.F3fs	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			0	363	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		3					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Frame_Shift_Del	DEL	ENST00000333371.3	37	c.9delT	CCDS10369.1																																																																																				0.652	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		2	4						2	4	---	---	---	---
