#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
MAGEC2	51438	broad.mit.edu	37	X	141291129	141291129	+	Silent	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chrX:141291129G>A	ENST00000247452.3	-	3	992	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)																												uc004fbu.2																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(643-645)acC>acT		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							107.0	98.0	101.0					X																	141291129		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291129G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.645C>T	X.37:g.141291129G>A		HNSCC(46;0.14)				MAGEC2_uc022cfj.1_Silent_p.T215T	p.T215T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			2	993	-	Acute lymphoblastic leukemia(192;6.56e-05)		215			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.645C>T	CCDS14678.1																																																																																				0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		84	133	0	0	0	1	0	84	133				
ZNF155	7711	broad.mit.edu	37	19	44500960	44500960	+	Silent	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:44500960G>A	ENST00000270014.2	+	5	1079	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF155_ENST00000590615.1_Silent_p.R317R|ZNF155_ENST00000407951.2_Silent_p.R328R|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	317					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AACCATTTAGGTGTGATACAT	0.413																																					NSCLC(61;554 1277 20909 42067 42312)	uc010xwt.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(982-984)agG>agA		Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.							120.0	115.0	117.0					19																	44500960		2203	4300	6503	SO:0001819	synonymous_variant	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500960G>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.951G>A	19.37:g.44500960G>A						ZNF155_uc002oxy.1_Silent_p.R317R|ZNF155_uc002oxz.1_Silent_p.R317R	p.R328R	NM_198089	NP_932355	Q12901	ZN155_HUMAN			5	1168	+		Prostate(69;0.0352)	317					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	c.984G>A	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	G	2.420	-0.333418	0.05278	.	.	ENSG00000204920	ENST00000425747	.	.	.	2.59	-1.15	0.09709	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.52099	D	0.999948	.	.	.	.	.	.	T	0.16778	-1.0391	5	0.23891	T	0.37	.	3.3584	0.07177	0.4622:0.0:0.3564:0.1815	.	.	.	.	D	191	.	ENSP00000401576:G191D	G	+	2	0	ZNF155	49192800	0.000000	0.05858	0.005000	0.12908	0.038000	0.13279	-4.935000	0.00168	-0.471000	0.06891	-0.379000	0.06801	GGT		0.413	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	104	0	0	0	1	0	5	104				
DGCR8	54487	broad.mit.edu	37	22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr22:20079439G>A	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						uc002zri.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.							128.0	114.0	119.0					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys					DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	p.E518K	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			6	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			26	8	0	0	0	1	0	26	8				
MUC16	94025	broad.mit.edu	37	19	9084433	9084433	+	Missense_Mutation	SNP	G	G	T	rs375652147		TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:9084433G>T	ENST00000397910.4	-	1	7585	c.7382C>A	c.(7381-7383)aCa>aAa	p.T2461K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2461	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCGAGCTTGTCTCGACAGG	0.507																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(7381-7383)aCa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							63.0	67.0	65.0					19																	9084433		2180	4287	6467	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084433G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7382C>A	19.37:g.9084433G>T	ENSP00000381008:p.Thr2461Lys						p.T2461K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	7586	-			2461			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7382C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.773	-0.483988	0.04383	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2461	B5ME49	.	K	2461	ENSP00000381008:T2461K	ENSP00000381008:T2461K	T	-	2	0	MUC16	8945433	0.023000	0.18921	0.116000	0.21606	0.118000	0.20060	0.562000	0.23531	0.300000	0.22699	0.305000	0.20034	ACA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	38	0	0	0	1	0	13	38				
PRB2	653247	broad.mit.edu	37	12	11546273	11546273	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr12:11546273G>A	ENST00000389362.4	-	3	774	c.739C>T	c.(739-741)Cca>Tca	p.P247S	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617																																						uc010shk.1																			0		p.P247Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(739-741)Cca>Tca		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.							140.0	167.0	158.0					12																	11546273		2194	4287	6481	SO:0001583	missense	653247							g.chr12:11546273G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.739C>T	12.37:g.11546273G>A	ENSP00000374013:p.Pro247Ser						p.P247S	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	774	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.739C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	4.359	0.066080	0.08388	.	.	ENSG00000121335	ENST00000389362	T	0.08634	3.07	1.63	-3.27	0.05048	.	.	.	.	.	T	0.07234	0.0183	M	0.62088	1.915	0.09310	N	1	B	0.23540	0.087	B	0.15870	0.014	T	0.36720	-0.9736	9	0.52906	T	0.07	.	0.4653	0.00523	0.3046:0.1879:0.3185:0.1889	.	247	P02812	PRB2_HUMAN	S	247	ENSP00000374013:P247S	ENSP00000374013:P247S	P	-	1	0	PRB2	11437540	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.110000	0.10824	-1.588000	0.01627	0.418000	0.28097	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		110	174	0	0	0	1	0	110	174				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	104	0	0	0	1	0	62	104				
MCF2L2	23101	broad.mit.edu	37	3	183041038	183041038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr3:183041038C>T	ENST00000328913.3	-	6	885	c.588G>A	c.(586-588)tgG>tgA	p.W196*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.W196*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	196							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTGATTTACCCACTGACCGT	0.502																																						uc003fli.1																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(586-588)tgG>tgA		Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.							125.0	120.0	122.0					3																	183041038		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041038C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.588G>A	3.37:g.183041038C>T	ENSP00000328118:p.Trp196*					MCF2L2_uc003flj.1_Nonsense_Mutation_p.W196*|MCF2L2_uc003flp.1_Nonsense_Mutation_p.W231*	p.W196*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		5	678	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		196					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.588G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641408	0.97726	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000328118:W196X	W	-	3	0	MCF2L2	184523732	1.000000	0.71417	0.974000	0.42286	0.802000	0.45316	5.429000	0.66495	2.610000	0.88304	0.655000	0.94253	TGG		0.502	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	96	0	0	0	1	0	4	96				
NEK8	284086	broad.mit.edu	37	17	27061954	27061954	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:27061954C>T	ENST00000268766.6	+	3	452	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R140S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACAAACACCGCATGGTCGT	0.562																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.3																			1	Substitution - Missense(1)	p.R140S(2)	lung(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(418-420)Cgc>Tgc		Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.							251.0	201.0	218.0					17																	27061954		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061954C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.418C>T	17.37:g.27061954C>T	ENSP00000268766:p.Arg140Cys						p.R140C	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			2	418	+	Lung NSC(42;0.0158)		140			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.418C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920714	0.73213	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.24350	1.86;1.86	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000002	T	0.26122	0.0637	L	0.41492	1.28	0.80722	D	1	B	0.22003	0.063	B	0.17098	0.017	T	0.01848	-1.1261	10	0.45353	T	0.12	.	18.8738	0.92327	0.0:1.0:0.0:0.0	.	140	Q86SG6	NEK8_HUMAN	C	140	ENSP00000465859:R140C;ENSP00000268766:R140C	ENSP00000268766:R140C	R	+	1	0	NEK8	24086081	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.488000	0.81441	2.709000	0.92574	0.491000	0.48974	CGC		0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			68	114	0	0	0	1	0	68	114				
VMP1	81671	broad.mit.edu	37	17	57842412	57842412	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:57842412G>C	ENST00000262291.4	+	6	805	c.495G>C	c.(493-495)caG>caC	p.Q165H	VMP1_ENST00000536180.1_Missense_Mutation_p.Q68H|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.Q31H	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	165					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATCCTGATCAGATTATTTGTC	0.388																																						uc002ixu.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(493-495)caG>caC		Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.							137.0	129.0	131.0					17																	57842412		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842412G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.495G>C	17.37:g.57842412G>C	ENSP00000262291:p.Gln165His					VMP1_uc010wog.2_5'UTR|VMP1_uc010woh.2_Intron|VMP1_uc010woi.2_Missense_Mutation_p.Q68H|VMP1_uc010woj.2_Missense_Mutation_p.Q31H	p.Q165H	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN			5	768	+			165					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.495G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854750	0.51376	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000536180	T;T;T	0.42513	0.97;0.97;0.97	6.06	4.07	0.47477	.	0.112825	0.64402	D	0.000008	T	0.54615	0.1869	M	0.74881	2.28	0.80722	D	1	P;P;P	0.47484	0.742;0.755;0.896	P;B;P	0.56127	0.482;0.367;0.792	T	0.51624	-0.8682	10	0.33141	T	0.24	-7.442	9.4166	0.38525	0.3221:0.0:0.6779:0.0	.	31;68;165	B4DED7;B4DGZ7;Q96GC9	.;.;VMP1_HUMAN	H	165;31;68	ENSP00000262291:Q165H;ENSP00000445130:Q31H;ENSP00000444969:Q68H	ENSP00000262291:Q165H	Q	+	3	2	VMP1	55197194	0.964000	0.33143	1.000000	0.80357	0.999000	0.98932	0.068000	0.14531	0.885000	0.36088	0.650000	0.86243	CAG		0.388	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		3	65	0	0	0	1	0	3	65				
SIRPB1	10326	broad.mit.edu	37	20	1551539	1551539	+	Silent	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr20:1551539C>T	ENST00000381605.4	-	4	1060	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	332	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATCATGCTCCACCTGACAGG	0.562																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(994-996)gtG>gtA		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							204.0	177.0	186.0					20																	1551539		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551539C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.996G>A	20.37:g.1551539C>T						SIRPB1_uc002wfk.4_Intron	p.V332V	NM_006065	NP_006056	O00241	SIRB1_HUMAN			3	1095	-			332			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.996G>A	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		55	96	0	0	0	1	0	55	96				
SCTR	6344	broad.mit.edu	37	2	120194901	120194901	+	IGR	SNP	T	T	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr2:120194901T>C	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.V153A|TMEM37_ENST00000409826.1_Missense_Mutation_p.V165A	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGAACCAAGTCACACTCATC	0.552																																						uc002tly.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(457-459)gTc>gCc		Homo sapiens transmembrane protein 37 (TMEM37), mRNA.							199.0	208.0	205.0					2																	120194901		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194901T>C		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194901T>C							p.V153A	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			1	492	+			153					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.458T>C	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	T	6.323	0.427647	0.11987	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.84	2.49	0.30216	.	0.823593	0.10571	N	0.659099	T	0.28034	0.0691	L	0.33485	1.01	0.20638	N	0.999875	B	0.06786	0.001	B	0.09377	0.004	T	0.29941	-0.9995	9	0.13470	T	0.59	-35.2795	6.9328	0.24451	0.0:0.2587:0.0:0.7413	.	153	Q8WXS4	CCGL_HUMAN	A	165;153	.	ENSP00000303148:V153A	V	+	2	0	TMEM37	119911371	0.003000	0.15002	0.909000	0.35828	0.732000	0.41865	1.123000	0.31308	0.368000	0.24481	0.460000	0.39030	GTC		0.552	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			7	363	0	0	0	1	0	7	363				
CHRNA9	55584	broad.mit.edu	37	4	40351126	40351126	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:40351126T>C	ENST00000310169.2	+	4	732	c.593T>C	c.(592-594)aTt>aCt	p.I198T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	198					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TCTGACTTCATTGAAGATGTG	0.517																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1																			0		p.F197F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(592-594)aTt>aCt		Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	Nicotine(DB00184)						225.0	196.0	206.0					4																	40351126		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351126T>C	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.593T>C	4.37:g.40351126T>C	ENSP00000312663:p.Ile198Thr						p.I198T	NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN			3	609	+			198					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.593T>C	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916916	0.73098	.	.	ENSG00000174343	ENST00000310169	T	0.78481	-1.18	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel ligand-binding (3);	0.228965	0.44483	D	0.000445	T	0.72277	0.3440	N	0.12961	0.28	0.48632	D	0.999689	P	0.42296	0.775	P	0.48873	0.593	T	0.75961	-0.3133	10	0.51188	T	0.08	.	15.6992	0.77528	0.0:0.0:0.0:1.0	.	198	Q9UGM1	ACHA9_HUMAN	T	198	ENSP00000312663:I198T	ENSP00000312663:I198T	I	+	2	0	CHRNA9	40045883	1.000000	0.71417	0.841000	0.33234	0.931000	0.56810	7.884000	0.87274	2.122000	0.65172	0.459000	0.35465	ATT		0.517	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			6	191	0	0	0	1	0	6	191				
CXCL13	10563	broad.mit.edu	37	4	78532142	78532142	+	Splice_Site	SNP	A	A	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:78532142A>T	ENST00000286758.4	+	5	357	c.279A>T	c.(277-279)aaA>aaT	p.K93N		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	93					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGCTTCACAGAAGAAGTTCTT	0.408																																						uc003hkr.3																			0				large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.e5-1		Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.							152.0	160.0	158.0					4																	78532142		2203	4300	6503	SO:0001630	splice_region_variant	10563				B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78532142A>T	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.279-1A>T	4.37:g.78532142A>T							p.K93_splice	NM_006419	NP_006410	O43927	CXL13_HUMAN			5	357	+			93						Splice_Site	SNP	ENST00000286758.4	37	c.279_splice	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690518	0.29962	.	.	ENSG00000156234	ENST00000286758	T	0.14893	2.47	4.63	-0.545	0.11843	Chemokine interleukin-8-like domain (1);	0.503050	0.21360	N	0.075801	T	0.11922	0.0290	L	0.45285	1.41	0.09310	N	1	P	0.41159	0.74	B	0.39185	0.293	T	0.16571	-1.0398	9	.	.	.	.	6.0869	0.19973	0.4996:0.3282:0.1722:0.0	.	93	O43927	CXL13_HUMAN	N	93	ENSP00000286758:K93N	.	K	+	3	2	CXCL13	78751166	0.001000	0.12720	0.003000	0.11579	0.036000	0.12997	-0.495000	0.06443	-0.335000	0.08451	-1.139000	0.01908	AAA		0.408	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		Missense_Mutation	46	74	0	0	0	1	0	46	74				
RAB37	326624	broad.mit.edu	37	17	72725494	72725494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:72725494delA	ENST00000340415.3	+	2	1181	c.172delA	c.(172-174)atcfs	p.I58fs	RAB37_ENST00000402449.4_Frame_Shift_Del_p.I58fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	65					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CACTGTGGGCATCGGATTCAC	0.607																																						uc010dfu.3																			0		p.I58I(1)|p.I58M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(172-174)atcfs		Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.							149.0	124.0	132.0					17																	72725494		2203	4300	6503	SO:0001589	frameshift_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72725494delA	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.172delA	17.37:g.72725494delA	ENSP00000341354:p.Ile58fs					RAB37_uc002jlc.2_Frame_Shift_Del_p.I58fs|RAB37_uc002jld.2_Frame_Shift_Del_p.I58fs	p.I58fs	NM_175738	NP_783865	Q96AX2	RAB37_HUMAN			1	642	+			65					A8MXF5|A8MYT0|Q8IWA7	Frame_Shift_Del	DEL	ENST00000340415.3	37	c.172delA																																																																																					0.607	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		60	100						60	100	---	---	---	---
