#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
ZMYM3	9203	ucsc.edu	37	X	70468373	70468373	+	Splice_Site	SNP	C	C	T	rs374433215		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chrX:70468373C>T	ENST00000353904.2	-	10	1926	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZMYM3_ENST00000373988.1_Splice_Site_p.R582H|ZMYM3_ENST00000373984.3_Splice_Site_p.R582H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Splice_Site_p.R580H|ZMYM3_ENST00000314425.5_Splice_Site_p.R580H	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	580					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGGCTTGTGCGCTGGAGGGA	0.607																																																	0													HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	32.0	30.0	31.0		1739,1739,1739	3.3	1.0	X		31	1,6727		0,1,2427,1872	no	missense-near-splice,missense-near-splice,missense-near-splice	ZMYM3	NM_201599.2,NM_005096.3,NM_001171162.1	29,29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	580/1371,580/1371,580/1359	70468373	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	9203							AB002383	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	"""Zinc fingers, MYM type"""	13054	13054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300061	300061	"""zinc finger protein 261"""	ZNF261	"""zinc finger protein 261"""	ZNF261		10486218	10486218	Standard	Standard	NM_201599	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	uc004dzh.2	Q14202	Q14202	OTTHUMG00000021799	OTTHUMG00000021799	ENST00000353904.2:c.1738-1G>A	X.37:g.70468373C>T																		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37		CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	1.777	-0.482793	0.04383	0.0	1.49E-4	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43688	1.52;0.94;1.52;1.52;1.52	5.27	3.35	0.38373	5.27	3.35	0.38373	TRASH (1);	0.356856	0.23779	N	0.044656	T	0.22399	0.0540	N	0.12182	0.205	0.21147	N	0.999775	B;B	0.19706	0.038;0.022	B;B	0.13407	0.009;0.004	T	0.13575	-1.0504	10	0.30854	T	0.27	-6.7912	8.5121	0.33224	0.1527:0.7642:0.0:0.0832	.	580;580	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	580;580;580;582;582	ENSP00000322845:R580H;ENSP00000363110:R580H;ENSP00000343909:R580H;ENSP00000363096:R582H;ENSP00000363100:R582H	ENSP00000322845:R580H	R	-	2	0	0	ZMYM3	70385098	70385098	0.072000	0.21174	1.000000	0.80357	0.488000	0.33401	0.125000	0.15749	0.990000	0.38787	0.183000	0.17082	CGC		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1			3	3	26	26	NM_201599	Missense_Mutation	4			11							4	11	
MRPS35	60488	broad.mit.edu	37	12	27863872	27863872	+	Silent	SNP	C	C	T			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:27863872C>T	ENST00000081029.3	+	1	167	c.96C>T	c.(94-96)gtC>gtT	p.V32V	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|MRPS35_ENST00000538315.1_Silent_p.V32V|RP11-1060J15.7_ENST00000538640.1_lincRNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCACTCCGGTCCCGACACCTA	0.652																																						ENST00000081029.3											0			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(94-96)gtC>gtT	mitochondrial ribosomal protein S35						59.0	47.0	51.0					12																	27863872		2203	4300	6503	SO:0001819	synonymous_variant	60488			DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27863872C>T	AF182422	AF182422	CCDS8714.1, CCDS53769.1	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			2012-09-13			ENSG00000061794	ENSG00000061794	ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	"""Mitochondrial ribosomal proteins / small subunits"""	16635	16635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611995	611995						11279123	11279123	Standard	Standard	NM_021821	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	uc001rih.3	P82673	P82673	OTTHUMG00000169215	OTTHUMG00000169215	ENST00000081029.3:c.96C>T	12.37:g.27863872C>T			MRPS35_ENST00000538315.1_Silent_p.V32V	p.V32V	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			1	167	+	Lung SC(9;0.0873)		32		B2RDZ7|Q96Q21	Silent	SNP	ENST00000081029.3	37	c.96C>T	CCDS8714.1																																																																																									0.652	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1		14.774251	-7	-7	21	21	NM_021821		5	14.774251	14.774251	5	0.500000	0	0	0	1	0	5	5	0.5
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		60.121832	-22	-22	90	90	NM_002072		19	60.169552	60.169552	22	0.463415	0	0	0	1	0	19	22	0.463415
NEBL	10529	ucsc.edu	37	10	21102943	21102943	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr10:21102943C>A	ENST00000377122.4	-	23	2667	c.2271G>T	c.(2269-2271)atG>atT	p.M757I	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	757					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.M757I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTCTACCTTTCATCTGTTTAT	0.333																																																	1	Substitution - Missense(1)	skin(1)															177.0	164.0	168.0					10																	21102943		2203	4300	6503	SO:0001583	missense	10529							Y16241	Y16241	CCDS7133.1, CCDS7134.1	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			2014-09-17			ENSG00000078114	ENSG00000078114	ENSG00000078114	ENSG00000078114				16932	16932	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605491	605491						9733644, 10470015	9733644, 10470015	Standard	Standard	NM_213569	NM_213569		Approved		uc001iqi.3	uc001iqi.3	O76041	O76041	OTTHUMG00000017788	OTTHUMG00000017788	ENST00000377122.4:c.2271G>T	10.37:g.21102943C>A	ENSP00000366326:p.Met757Ile																	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37		CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621180	0.28889	.	.	ENSG00000078114	ENST00000377122	T	0.46819	0.86	6.01	5.11	0.69529	6.01	5.11	0.69529	.	0.284283	0.38005	N	0.001848	T	0.37999	0.1024	L	0.34521	1.04	0.80722	D	1	B	0.15141	0.012	B	0.24006	0.05	T	0.15809	-1.0424	10	0.14656	T	0.56	.	15.0403	0.71785	0.0:0.9324:0.0:0.0676	.	757	O76041	NEBL_HUMAN	I	757	ENSP00000366326:M757I	ENSP00000366326:M757I	M	-	3	0	0	NEBL	21142949	21142949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.686000	0.46968	1.558000	0.49541	0.650000	0.86243	ATG		0.333	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1			0	0	61	61	NM_006393		4			28							4	28	
KRR1	11103	broad.mit.edu	37	12	75897718	75897718	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:75897718T>C	ENST00000229214.4	-	7	820	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	266	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GAATGGCGTATATTCTTTCTT	0.343																																						ENST00000229214.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(796-798)tAt>tGt	KRR1, small subunit (SSU) processome component, homolog (yeast)						259.0	245.0	250.0					12																	75897718		2203	4300	6503	SO:0001583	missense	11103			rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75897718T>C	U55766	U55766	CCDS9012.1	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615	ENSG00000111615	ENSG00000111615				5176	5176	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612817	612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	7505766, 11027267, 11359931, 8675026	Standard	Standard	NM_007043	NM_007043		Approved	RIP-1	uc001sxt.3	uc001sxt.3	Q13601	Q13601	OTTHUMG00000169759	OTTHUMG00000169759	ENST00000229214.4:c.797A>G	12.37:g.75897718T>C	ENSP00000229214:p.Tyr266Cys		KRR1_ENST00000438169.2_Intron	p.Y266C	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			7	820	-			266	Lys-rich.	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.797A>G	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368063	0.82463	.	.	ENSG00000111615	ENST00000229214	T	0.31510	1.49	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75340	-0.3352	10	0.87932	D	0	-8.1063	16.0153	0.80434	0.0:0.0:0.0:1.0	.	266	Q13601	KRR1_HUMAN	C	266	ENSP00000229214:Y266C	ENSP00000229214:Y266C	Y	-	2	0	0	KRR1	74183985	74183985	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.324000	0.79115	2.190000	0.69967	0.397000	0.26171	TAT		0.343	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1		-7.701973	-30	-30	165	165	NM_007043		5	11.829324	11.829324	88	0.053763	0	0	0	1	0	5	88	0.053763
TMEM8B	51754	broad.mit.edu	37	9	35846950	35846950	+	Silent	SNP	G	G	A			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:35846950G>A	ENST00000377991.4	+	11	1792	c.777G>A	c.(775-777)gtG>gtA	p.V259V	TMEM8B_ENST00000439587.2_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000377988.2_Silent_p.V259V	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	259					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GTCGATATGTGCTGGAAGCTG	0.552																																						ENST00000377988.2											0			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(775-777)gtG>gtA	transmembrane protein 8B						212.0	160.0	177.0					9																	35846950		2203	4300	6503	SO:0001819	synonymous_variant	51754			cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35846950G>A	BC043384	BC043384	CCDS6595.1, CCDS43800.1	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103	ENSG00000137103	ENSG00000137103				21427	21427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""	"""nasopharyngeal carcinoma expressed 6"""			"""chromosome 9 open reading frame 127"""	C9orf127	"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	12918109, 8619474	Standard	Standard	NM_016446	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	uc003zym.4	A6NDV4	A6NDV4	OTTHUMG00000019885	OTTHUMG00000019885	ENST00000377991.4:c.777G>A	9.37:g.35846950G>A			TMEM8B_ENST00000377991.4_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000439587.2_Silent_p.V259V	p.V259V	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			10	2065	+			259		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.777G>A	CCDS43800.1																																																																																									0.552	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2		2.837767	12	12	89	89	NM_016446		5	11.085731	11.085731	46	0.098039	0	0	0	1	0	5	46	0.098039
ITPKB	3707	broad.mit.edu	37	1	226923298	226923298	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr1:226923298C>G	ENST00000272117.3	-	1	1861	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	ITPKB_ENST00000429204.1_Missense_Mutation_p.S621T|ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	621					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTCAGGGTCACTGGAGATGTC	0.587																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1											0			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1861-1863)aGt>aCt	inositol-trisphosphate 3-kinase B						123.0	114.0	117.0					1																	226923298		2203	4300	6503	SO:0001583	missense	3707					ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923298C>G	AJ242780	AJ242780	CCDS1555.1	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	ENSG00000143772	ENSG00000143772	2.7.1.127			6179	6179	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147522	147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""		"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	1654894, 1330886	Standard	Standard	NM_002221	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	uc010pvo.2	P27987	P27987	OTTHUMG00000037582	OTTHUMG00000037582	ENST00000272117.3:c.1862G>C	1.37:g.226923298C>G	ENSP00000272117:p.Ser621Thr		ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T|ITPKB_ENST00000272117.3_Missense_Mutation_p.S621T	p.S621T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	2189	-		Prostate(94;0.0773)	621		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1862G>C	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029051	0.93518	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.53206	1.29;1.29;0.63	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.27053	0.805	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.56786	-0.7921	10	0.44086	T	0.13	-13.9239	20.14	0.98056	0.0:1.0:0.0:0.0	.	621	P27987	IP3KB_HUMAN	T	621	ENSP00000272117:S621T;ENSP00000411152:S621T;ENSP00000355748:S621T	ENSP00000272117:S621T	S	-	2	0	0	ITPKB	224989921	224989921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.487000	0.73633	2.837000	0.97791	0.591000	0.81541	AGT		0.587	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		159.835767	10	10	129	129	NM_002221		47	160.153296	160.153296	36	0.566265	0	0	0	1	0	47	36	0.566265
ARHGEF17	9828	broad.mit.edu	37	11	73021064	73021064	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr11:73021064T>G	ENST00000263674.3	+	1	1731	c.1381T>G	c.(1381-1383)Tcc>Gcc	p.S461A	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	461					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGCGGAAGTCCCTGTCAAA	0.577																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1381-1383)Tcc>Gcc	Rho guanine nucleotide exchange factor (GEF) 17						74.0	79.0	77.0					11																	73021064		2200	4293	6493	SO:0001583	missense	9828			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021064T>G	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.1381T>G	11.37:g.73021064T>G	ENSP00000263674:p.Ser461Ala			p.S461A	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1731	+			461		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1381T>G	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058516	0.76074	.	.	ENSG00000110237	ENST00000263674	T	0.71341	-0.56	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.186430	0.34435	N	0.003965	T	0.75517	0.3860	L	0.29908	0.895	0.38199	D	0.940129	D	0.64830	0.994	D	0.72625	0.978	T	0.80578	-0.1320	10	0.87932	D	0	-16.1841	13.5607	0.61788	0.0:0.0:0.0:1.0	.	461	Q96PE2	ARHGH_HUMAN	A	461	ENSP00000263674:S461A	ENSP00000263674:S461A	S	+	1	0	0	ARHGEF17	72698712	72698712	1.000000	0.71417	0.989000	0.46669	0.559000	0.35586	7.847000	0.86896	1.876000	0.54355	0.379000	0.24179	TCC		0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		17.611395	4	4	42	42	NM_014786		7	19.380225	19.380225	22	0.241379	0	0	0	1	0	7	22	0.241379
RSG1	79363	ucsc.edu	37	1	16559053	16559053	+	Missense_Mutation	SNP	C	C	T	rs142028968	byFrequency	TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr1:16559053C>T	ENST00000375599.3	-	4	898	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	160	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)	p.R160H(2)		large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACCTGCTATGCGGGCCAGCTG	0.587																																																	2	Substitution - Missense(2)	lung(1)|pancreas(1)										C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	64.0	62.0	63.0		479	5.6	0.8	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RSG1	NM_030907.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	160/259	16559053	4,13002	2203	4300	6503	SO:0001583	missense	79363							BC008702	BC008702	CCDS171.1	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881	ENSG00000132881	ENSG00000132881				28127	28127	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""	"""Rem/Rab-Similar GTPase 1"""			"""chromosome 1 open reading frame 89"""	C1orf89	"""chromosome 1 open reading frame 89"""	C1orf89		19767740	19767740	Standard	Standard	NM_030907	NM_030907		Approved	MGC10731	uc001ayd.3	uc001ayd.3	Q9BU20	Q9BU20	OTTHUMG00000002214	OTTHUMG00000002214	ENST00000375599.3:c.479G>A	1.37:g.16559053C>T	ENSP00000364749:p.Arg160His																	Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37		CCDS171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.91|18.91	3.722860|3.722860	0.68959|0.68959	6.81E-4|6.81E-4	1.16E-4|1.16E-4	ENSG00000132881|ENSG00000132881	ENST00000434014|ENST00000375599	.|T	.|0.69040	.|-0.37	5.61|5.61	5.61|5.61	0.85477|0.85477	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Mitochondrial Rho-like (1);	.|0.064449	.|0.64402	.|D	.|0.000007	T|T	0.80401|0.80401	0.4616|0.4616	M|M	0.71206|0.71206	2.165|2.165	0.53688|0.53688	D|D	0.999973|0.999973	.|D	.|0.89917	.|1.0	.|D	.|0.65773	.|0.938	T|T	0.81351|0.81351	-0.0972|-0.0972	5|10	.|0.59425	.|D	.|0.04	-4.6237|-4.6237	17.126|17.126	0.86714|0.86714	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160	.|Q9BU20	.|RSG1_HUMAN	T|H	91|160	.|ENSP00000364749:R160H	.|ENSP00000364749:R160H	A|R	-|-	1|2	0|0	0|0	RSG1|RSG1	16431640|16431640	16431640|16431640	0.995000|0.995000	0.38212|0.38212	0.845000|0.845000	0.33349|0.33349	0.478000|0.478000	0.33099|0.33099	3.342000|3.342000	0.52159|0.52159	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2			-11	-11	54	54	NM_030907		4			33							4	33	
AC015922.5	0	broad.mit.edu	37	17	15736892	15736892	+	RNA	DEL	A	A	-			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr17:15736892delA	ENST00000584636.1	+	0	316																											CAACTCTTCCAAGGCCTGTCT	0.453																																						ENST00000584636.1											0																																																0						g.chr17:15736892delA																																																		17.37:g.15736892delA											0	316	+						RNA	DEL	ENST00000584636.1	37																																																																																											0.453	AC015922.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444654.1	.	.	1	1	15	15			2			4	0.33						2	4	0.33
