#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
GPR78	27201	broad.mit.edu	37	4	8588969	8588969	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr4:8588969A>G	ENST00000382487.4	+	3	1388	c.971A>G	c.(970-972)gAc>gGc	p.D324G	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	324					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCCACCCATGACAGCTCTCTG	0.647																																						ENST00000382487.4											0			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(970-972)gAc>gGc	G protein-coupled receptor 78						45.0	51.0	49.0					4																	8588969		2203	4299	6502	SO:0001583	missense	27201			activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588969A>G	AF411107	AF411107	CCDS3403.1	CCDS3403.1	4p16.1	2012-08-21			2012-08-21			ENSG00000155269	ENSG00000155269	ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	4528	4528	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606921	606921						11574155	11574155	Standard	Standard	NM_080819	NM_080819		Approved		uc003glk.4	uc003glk.4	Q96P69	Q96P69	OTTHUMG00000128483	OTTHUMG00000128483	ENST00000382487.4:c.971A>G	4.37:g.8588969A>G	ENSP00000371927:p.Asp324Gly		GPR78_ENST00000509216.1_3'UTR	p.D324G	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			3	1388	+			324		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.971A>G	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	A	2.982	-0.210017	0.06140	.	.	ENSG00000155269	ENST00000382487	T	0.61274	0.12	1.91	1.91	0.25777	1.91	1.91	0.25777	.	0.338236	0.24904	N	0.034671	T	0.30665	0.0772	N	0.08118	0	0.22292	N	0.999224	B	0.02656	0.0	B	0.01281	0.0	T	0.14227	-1.0480	10	0.22706	T	0.39	.	7.0915	0.25287	1.0:0.0:0.0:0.0	.	324	Q96P69	GPR78_HUMAN	G	324	ENSP00000371927:D324G	ENSP00000371927:D324G	D	+	2	0	0	GPR78	8639869	8639869	0.998000	0.40836	0.015000	0.15790	0.011000	0.07611	1.532000	0.36029	0.412000	0.25729	0.172000	0.16884	GAC		0.647	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		25.896248	-3	-3	64	64			11	30.295561	30.295561	43	0.203704	0	0	0	1	0	11	43	0.203704
ANGEL1	23357	broad.mit.edu	37	14	77273137	77273137	+	Silent	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr14:77273137G>A	ENST00000251089.2	-	5	1114	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTTGTAGCAGACAGCACAGC	0.512																																						ENST00000251089.2											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1000-1002)gtC>gtT	angel homolog 1 (Drosophila)						169.0	180.0	177.0					14																	77273137		2203	4300	6503	SO:0001819	synonymous_variant	23357						g.chr14:77273137G>A	AF111169	AF111169	CCDS9852.1	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523	ENSG00000013523	ENSG00000013523				19961	19961	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						KIAA0759		KIAA0759		11943475	11943475	Standard	Standard	NM_015305	NM_015305		Approved	Ccr4e	uc001xsv.3	uc001xsv.3	Q9UNK9	Q9UNK9	OTTHUMG00000171494	OTTHUMG00000171494	ENST00000251089.2:c.1002C>T	14.37:g.77273137G>A				p.V334V	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1114	-			334		B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1002C>T	CCDS9852.1																																																																																									0.512	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		-33.350294	-5	-5	214	214	NM_015305		4	6.985138	6.985138	157	0.024845	0	0	0	1	0	4	157	0.024845
SPTBN1	6711	broad.mit.edu	37	2	54845327	54845327	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:54845327G>A	ENST00000356805.4	+	7	1041	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E241K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	254	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTGGACCCCGAAGGTAGGGA	0.428																																						ENST00000333896.5											0			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(721-723)Gaa>Aaa	spectrin, beta, non-erythrocytic 1						61.0	59.0	60.0					2																	54845327		2203	4300	6503	SO:0001583	missense	0			actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54845327G>A			CCDS33198.1, CCDS33199.1	CCDS33198.1, CCDS33199.1	2p21	2013-01-10			2013-01-10			ENSG00000115306	ENSG00000115306	ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	11275	11275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182790	182790								Standard	Standard	NM_003128	NM_003128		Approved		uc002rxu.3	uc002rxu.3	Q01082	Q01082	OTTHUMG00000133746	OTTHUMG00000133746	ENST00000356805.4:c.760G>A	2.37:g.54845327G>A	ENSP00000349259:p.Glu254Lys		SPTBN1_ENST00000356805.4_Missense_Mutation_p.E254K	p.E241K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		6	1106	+			254	Actin-binding.|CH 2.	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.721G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957391	0.97145	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.97620	-0.31;-0.31;-4.46	5.56	5.56	0.83823	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.76575	0.988;0.827	D	0.99533	1.0961	10	0.87932	D	0	.	19.5255	0.95203	0.0:0.0:1.0:0.0	.	241;254	Q01082-3;Q01082	.;SPTB2_HUMAN	K	254;254;241	ENSP00000349259:E254K;ENSP00000374630:E254K;ENSP00000334156:E241K	ENSP00000334156:E241K	E	+	1	0	0	SPTBN1	54698831	54698831	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	9.807000	0.99171	2.624000	0.88883	0.650000	0.86243	GAA		0.428	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		1.262545	-4	-4	49	49			4	9.469446	9.469446	43	0.085106	0	0	0	1	0	4	43	0.085106
CACNA1B	774	broad.mit.edu	37	9	141016204	141016204	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr9:141016204C>T	ENST00000371372.1	+	47	6918	c.6773C>T	c.(6772-6774)cCt>cTt	p.P2258L	CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000277549.5_Missense_Mutation_p.P1452L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2258					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTCTGACCCTTACCTGGGG	0.667																																						ENST00000277549.5											0			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4354-4356)cCt>cTt	calcium channel, voltage-dependent, N type, alpha 1B subunit						35.0	40.0	38.0					9																	141016204		2001	4160	6161	SO:0001583	missense	774			membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016204C>T	AB209467	AB209467	CCDS59522.1, CCDS59523.1	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	1389	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601012	601012		CACNL1A5		CACNL1A5		8825650, 16382099	8825650, 16382099	Standard	Standard	NM_000718	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	uc004cog.3	Q00975	Q00975	OTTHUMG00000021002	OTTHUMG00000021002	ENST00000371372.1:c.6773C>T	9.37:g.141016204C>T	ENSP00000360423:p.Pro2258Leu		CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P2258L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L	p.P1452L			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6924	+	all_cancers(76;0.166)		2258		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4355C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.507888|4.507888	0.85282|0.85282	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.96587|0.99005	-4.06|-4.9;-5.32;-4.91;-4.89;-4.88	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.652243	.|0.14374	.|N	.|0.323603	D|D	0.99227|0.99227	0.9731|0.9731	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.71656	.|0.974;0.904	D|D	0.99878|0.99878	1.1107|1.1107	7|10	0.10111|0.87932	T|D	0.7|0	.|.	18.5267|18.5267	0.90975|0.90975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2257;2256	.|B1AQK7;B1AQK6	.|.;.	F|L	2196|2258;1452;2256;2257;2259	ENSP00000277551:L2196F|ENSP00000360423:P2258L;ENSP00000277549:P1452L;ENSP00000360414:P2256L;ENSP00000360408:P2257L;ENSP00000360406:P2259L	ENSP00000277551:L2196F|ENSP00000277549:P1452L	L|P	+|+	1|2	0|0	0|0	CACNA1B|CACNA1B	140136025|140136025	140136025|140136025	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.813000|0.813000	0.45954|0.45954	7.213000|7.213000	0.77950|0.77950	2.381000|2.381000	0.81170|0.81170	0.555000|0.555000	0.69702|0.69702	CTT|CCT		0.667	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		25.429891	9	9	64	64	NM_000718		10	27.529615	27.529615	29	0.256410	0	0	0	1	0	10	29	0.25641
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		46.184060	-28	-28	53	53	NM_002067		16	47.36486	47.364860	32	0.333333	0	0	0	1	0	16	32	0.333333
DENND6A	201627	broad.mit.edu	37	3	57627390	57627390	+	Silent	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr3:57627390A>G	ENST00000311128.5	-	12	1192	c.1122T>C	c.(1120-1122)ctT>ctC	p.L374L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	374					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CTGTAGGTTTAAGGTCTCCTA	0.363																																						ENST00000311128.5											0										c.(1120-1122)ctT>ctC	DENN/MADD domain containing 6A						138.0	129.0	132.0					3																	57627390		2203	4300	6503	SO:0001819	synonymous_variant	201627						g.chr3:57627390A>G	AK074156	AK074156	CCDS33773.1	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	"""DENN/MADD domain containing"""	26635	26635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""family with sequence similarity 116, member A"""	FAM116A	"""family with sequence similarity 116, member A"""	FAM116A		21330364	21330364	Standard	Standard	NM_152678	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	uc003dja.3	Q8IWF6	Q8IWF6	OTTHUMG00000158639	OTTHUMG00000158639	ENST00000311128.5:c.1122T>C	3.37:g.57627390A>G			RP11-755B10.2_ENST00000470427.1_RNA	p.L374L	NM_152678.2	NP_689891.1					12	1192	-					Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.1122T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	8.747	0.920335	0.17982	.	.	ENSG00000174839	ENST00000477344	.	.	.	5.26	2.71	0.32032	5.26	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.1716	1.7721	0.03014	0.4697:0.2671:0.1344:0.1288	.	.	.	.	Q	143	.	.	X	-	1	0	0	FAM116A	57602430	57602430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	0.335000	0.23614	0.477000	0.44152	TAA		0.363	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		37.351572	-30	-30	57	57	NM_152678		13	40.481135	40.481135	40	0.245283	0	0	0	1	0	13	40	0.245283
OSM	5008	broad.mit.edu	37	22	30661053	30661053	+	Missense_Mutation	SNP	G	G	T	rs149963275		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:30661053G>T	ENST00000215781.2	-	2	155	c.115C>A	c.(115-117)Ctt>Att	p.L39I	OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	39					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGCTGGCCAAGGAGCACGCGG	0.577																																						ENST00000215781.2											0			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11						c.(115-117)Ctt>Att	oncostatin M						146.0	134.0	138.0					22																	30661053		2203	4300	6503	SO:0001583	missense	5008			cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30661053G>T	AF129855	AF129855	CCDS13873.1	CCDS13873.1	22q12.2	2011-07-21			2011-07-21			ENSG00000099985	ENSG00000099985	ENSG00000099985	ENSG00000099985				8506	8506	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			165095	165095						1717982	1717982	Standard	Standard	NM_020530	NM_020530		Approved	MGC20461	uc003ahb.3	uc003ahb.3	P13725	P13725	OTTHUMG00000150913	OTTHUMG00000150913	ENST00000215781.2:c.115C>A	22.37:g.30661053G>T	ENSP00000215781:p.Leu39Ile		OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron	p.L39I	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	Epithelial(10;0.206)		2	155	-			39		Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.115C>A	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829116	0.71258	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.61392	0.11	3.69	3.69	0.42338	3.69	3.69	0.42338	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.33364	N	0.004993	T	0.63593	0.2524	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.65372	-0.6184	10	0.62326	D	0.03	-21.8977	11.2324	0.48920	0.0:0.0:1.0:0.0	.	39	P13725	ONCM_HUMAN	I	39;18	ENSP00000215781:L39I	ENSP00000215781:L39I	L	-	1	0	0	OSM	28991053	28991053	0.980000	0.34600	0.642000	0.29436	0.098000	0.18820	1.876000	0.39588	2.372000	0.80975	0.561000	0.74099	CTT		0.577	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1		12.855980	0	0	147	147	NM_020530		11	26.173316	26.173316	82	0.118280	1	0	4.68919e-08	1	4.90233e-08	11	82	0.11828
ARAP3	64411	broad.mit.edu	37	5	141059986	141059986	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr5:141059986T>G	ENST00000239440.4	-	2	133	c.68A>C	c.(67-69)gAc>gCc	p.D23A	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	23	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGGAACGTGTCTGCATACTG	0.672																																						ENST00000239440.4											0			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(67-69)gAc>gCc	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						43.0	42.0	42.0					5																	141059986		2203	4299	6502	SO:0001583	missense	64411			cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059986T>G	AJ310567	AJ310567	CCDS4266.1	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	24097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606647	606647	"""centaurin, delta 3"""	CENTD3	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	11804589, 12015138	Standard	Standard	XM_005268497	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	uc003llm.3	Q8WWN8	Q8WWN8	OTTHUMG00000129610	OTTHUMG00000129610	ENST00000239440.4:c.68A>C	5.37:g.141059986T>G	ENSP00000239440:p.Asp23Ala		ARAP3_ENST00000508305.1_5'UTR	p.D23A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	133	-			23	SAM.	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.68A>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505405	0.64410	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.86956	-2.19;-2.19	4.39	4.39	0.52855	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.88869	0.6554	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85687	0.1304	10	0.02654	T	1	.	11.0754	0.48027	0.0:0.0:0.0:1.0	.	23	Q8WWN8	ARAP3_HUMAN	A	23	ENSP00000239440:D23A;ENSP00000421148:D23A	ENSP00000239440:D23A	D	-	2	0	0	ARAP3	141040170	141040170	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.432000	0.59922	1.842000	0.53543	0.379000	0.24179	GAC		0.672	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		3.469072	-12	-12	55	55	NM_022481		4	10.117667	10.117667	37	0.097561	0	0	0	1	0	4	37	0.097561
SPAG16	79582	broad.mit.edu	37	2	214794781	214794781	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:214794781G>A	ENST00000331683.5	+	12	1407	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	438					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACACAGCCGCGCAGTGTGGTC	0.443																																						ENST00000331683.5											0			endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1312-1314)Gca>Aca	sperm associated antigen 16						111.0	110.0	110.0					2																	214794781		2203	4300	6503	SO:0001583	missense	79582			cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794781G>A	AF310672	AF310672	CCDS2396.1, CCDS46508.1	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			2013-05-21			ENSG00000144451	ENSG00000144451	ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	"""WD repeat domain containing"""	23225	23225	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612173	612173						12391165, 11867345	12391165, 11867345	Standard	Standard	NM_024532	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	uc002veq.4	Q8N0X2	Q8N0X2	OTTHUMG00000133015	OTTHUMG00000133015	ENST00000331683.5:c.1312G>A	2.37:g.214794781G>A	ENSP00000332592:p.Ala438Thr		SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T	p.A438T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1407	+		Renal(323;0.00461)	438		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1312G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495707	0.64186	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.59364	0.27;0.27	5.48	5.48	0.80851	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.350989	0.24737	N	0.036001	T	0.65729	0.2719	L	0.38953	1.18	0.53005	D	0.999965	D;D;P;D	0.76494	0.999;0.999;0.869;0.999	D;D;B;D	0.65773	0.938;0.923;0.418;0.938	T	0.58901	-0.7554	10	0.20519	T	0.43	.	17.8902	0.88870	0.0:0.0:1.0:0.0	.	344;289;378;438	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	T	438;344	ENSP00000332592:A438T;ENSP00000363428:A344T	ENSP00000332592:A438T	A	+	1	0	0	SPAG16	214503026	214503026	1.000000	0.71417	0.890000	0.34922	0.148000	0.21650	4.875000	0.63072	2.550000	0.86006	0.655000	0.94253	GCA		0.443	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2		7.749510	-6	-6	86	86	NM_024532		8	19.263683	19.263683	67	0.106667	0	0	0	1	0	8	67	0.106667
OR9A4	130075	broad.mit.edu	37	7	141618729	141618729	+	Silent	SNP	C	C	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr7:141618729C>A	ENST00000548136.1	+	1	113	c.54C>A	c.(52-54)ggC>ggA	p.G18G	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCTTCCCTGGCTCTGAAGAAC	0.373																																						ENST00000548136.1											0			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(52-54)ggC>ggA	olfactory receptor, family 9, subfamily A, member 4						240.0	245.0	243.0					7																	141618729		2131	4271	6402	SO:0001819	synonymous_variant	130075			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618729C>A			CCDS43661.1	CCDS43661.1	7q34	2012-10-03			2012-10-03			ENSG00000258083	ENSG00000258083	ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	15095	15095	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001001656	NM_001001656		Approved		uc003vwu.1	uc003vwu.1	Q8NGU2	Q8NGU2	OTTHUMG00000158370	OTTHUMG00000158370	ENST00000548136.1:c.54C>A	7.37:g.141618729C>A			MGAM_ENST00000497554.1_Intron	p.G18G	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	113	+	Melanoma(164;0.0171)		18		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.54C>A	CCDS43661.1																																																																																									0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3		2.536394	16	16	184	184	NM_001001656		11	24.507603	24.507603	116	0.086614	1	0	1.61879e-10	1	1.77296e-10	11	116	0.086614
OR5B21	219968	broad.mit.edu	37	11	58274720	58274720	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr11:58274720A>G	ENST00000360374.2	-	1	858	c.859T>C	c.(859-861)Tac>Cac	p.Y287H		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTAAGGCTGTATATCAAGGGA	0.418																																						ENST00000360374.2											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(859-861)Tac>Cac	olfactory receptor, family 5, subfamily B, member 21						145.0	142.0	143.0					11																	58274720		2201	4295	6496	SO:0001583	missense	219968			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274720A>G			CCDS31552.1	CCDS31552.1	11q12.1	2012-08-09			2012-08-09			ENSG00000198283	ENSG00000198283	ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	19616	19616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005218	NM_001005218		Approved		uc010rki.2	uc010rki.2	A6NL26	A6NL26	OTTHUMG00000167519	OTTHUMG00000167519	ENST00000360374.2:c.859T>C	11.37:g.58274720A>G	ENSP00000353537:p.Tyr287His			p.Y287H	NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN			1	858	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	287			Missense_Mutation	SNP	ENST00000360374.2	37	c.859T>C	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036007	0.75617	.	.	ENSG00000198283	ENST00000360374	T	0.61859	0.07	4.84	4.84	0.62591	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004646	D	0.84110	0.5400	H	0.98218	4.175	0.44388	D	0.997297	D	0.89917	1.0	D	0.97110	1.0	D	0.89643	0.3864	10	0.87932	D	0	-1.8995	13.392	0.60829	1.0:0.0:0.0:0.0	.	287	A6NL26	OR5BL_HUMAN	H	287	ENSP00000353537:Y287H	ENSP00000353537:Y287H	Y	-	1	0	0	OR5B21	58031296	58031296	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.918000	0.92759	2.024000	0.59613	0.533000	0.62120	TAC		0.418	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1		37.508965	-25	-25	171	171	NM_001005218		20	55.6484	55.648400	124	0.138889	0	0	0	1	0	20	124	0.138889
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3											4	Substitution - Missense(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt	hydroxysteroid (17-beta) dehydrogenase 7						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478			cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	AF098786	CCDS1242.1	CCDS1242.1	1q23	2011-09-14			2011-09-14			ENSG00000132196	ENSG00000132196	ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	5215	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756	606756						10544267, 10419022, 19027726	10544267, 10419022, 19027726	Standard	Standard	NM_016371	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	uc001gci.3	P56937	P56937	OTTHUMG00000034420	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn		HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	0	HSD17B7	161036227	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1		-7.666666	-24	-24	36	36	NM_016371		4	8.407219	8.407219	72	0.052632	0	0	0	1	0	4	72	0.052632
SGSM3	27352	broad.mit.edu	37	22	40801734	40801734	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:40801734G>A	ENST00000248929.9	+	8	889	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTGCTCCCCGCCTCCTACTT	0.647																																						ENST00000248929.9											0			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(700-702)Gcc>Acc	small G protein signaling modulator 3						104.0	105.0	104.0					22																	40801734		2203	4300	6503	SO:0001583	missense	27352			cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40801734G>A	AL022238	AL022238	CCDS14002.1	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	"""Small G protein signaling modulators"""	25228	25228	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	"""RUN and SH3 containing 3"""	610440	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	11214971, 17509819	Standard	Standard	XM_005261572	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	uc003ayu.1	Q96HU1	Q96HU1	OTTHUMG00000151141	OTTHUMG00000151141	ENST00000248929.9:c.700G>A	22.37:g.40801734G>A	ENSP00000248929:p.Ala234Thr		SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T	p.A234T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			8	889	+			234	Rab-GAP TBC.		Missense_Mutation	SNP	ENST00000248929.9	37	c.700G>A	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716676	0.30413	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.11277	2.79;2.79;2.79	4.78	4.78	0.61160	4.78	4.78	0.61160	Rab-GAP/TBC domain (4);	0.114380	0.64402	D	0.000013	T	0.16171	0.0389	L	0.55834	1.745	0.46356	D	0.999005	P;P;P;B;B	0.46952	0.746;0.746;0.887;0.16;0.16	B;B;B;B;B	0.43658	0.426;0.426;0.3;0.106;0.106	T	0.01940	-1.1243	10	0.39692	T	0.17	.	18.1887	0.89800	0.0:0.0:1.0:0.0	.	171;167;234;234;234	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	T	167;234;177;167	ENSP00000399249:A167T;ENSP00000248929:A234T;ENSP00000390998:A167T	ENSP00000248929:A234T	A	+	1	0	0	SGSM3	39131680	39131680	1.000000	0.71417	0.995000	0.50966	0.419000	0.31324	6.923000	0.75817	2.401000	0.81631	0.313000	0.20887	GCC		0.647	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2		-23.810351	-24	-24	131	131	NM_015705		4	6.707913	6.707913	123	0.031496	0	0	0	1	0	4	123	0.031496
SPAG5	10615	broad.mit.edu	37	17	26906802	26906802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr17:26906802G>A	ENST00000321765.5	-	17	3183	c.2851C>T	c.(2851-2853)Cga>Tga	p.R951*	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GATGCTACTCGGGTGAAAGCA	0.502																																						ENST00000321765.5											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2851-2853)Cga>Tga	sperm associated antigen 5						149.0	153.0	152.0					17																	26906802		2203	4300	6503	SO:0001587	stop_gained	10615			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906802G>A	AF063308	AF063308	CCDS32594.1	CCDS32594.1	17q11.2	2008-07-18			2008-07-18			ENSG00000076382	ENSG00000076382	ENSG00000076382	ENSG00000076382				13452	13452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562	615562						11549262	11549262	Standard	Standard	NM_006461	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	uc002hbq.3	Q96R06	Q96R06	OTTHUMG00000166586	OTTHUMG00000166586	ENST00000321765.5:c.2851C>T	17.37:g.26906802G>A	ENSP00000323300:p.Arg951*			p.R951*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			17	3183	-	Lung NSC(42;0.00431)		951		O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2851C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	g	41	8.587239	0.98875	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.4	3.38	0.38709	5.4	3.38	0.38709	.	0.148155	0.30365	N	0.009799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7226	10.8941	0.47012	0.0:0.0:0.6404:0.3596	.	.	.	.	X	951	.	ENSP00000323300:R951X	R	-	1	2	2	SPAG5	23930929	23930929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.605000	0.24179	0.813000	0.34350	0.645000	0.84053	CGA		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		14.622097	-41	-41	140	140	NM_006461		12	31.26682	31.266820	98	0.109091	0	0	0	1	0	12	98	0.109091
CADM3	57863	broad.mit.edu	37	1	159162404	159162404	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:159162404C>T	ENST00000368125.4	+	3	423	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	89	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T123M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTTACCTCTACGCCCCACGAG	0.507																																						ENST00000368125.4											1	Substitution - Missense(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(265-267)aCg>aTg	cell adhesion molecule 3						143.0	119.0	127.0					1																	159162404		2203	4300	6503	SO:0001583	missense	57863			adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162404C>T	AY046418	AY046418	CCDS1182.1, CCDS44251.1	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	17601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nectin-like 1"""	"""nectin-like 1"""	609743	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	11536053	Standard	Standard	NM_021189	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	uc001ftk.2	Q8N126	Q8N126	OTTHUMG00000037177	OTTHUMG00000037177	ENST00000368125.4:c.266C>T	1.37:g.159162404C>T	ENSP00000357107:p.Thr89Met		CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	p.T89M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	423	+	all_hematologic(112;0.0429)		89	Ig-like V-type.	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.266C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402662	0.42613	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.84660	-1.88;-1.88;-1.88	5.22	5.22	0.72569	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068114	0.56097	D	0.000036	D	0.87458	0.6182	L	0.61218	1.895	0.28871	N	0.894971	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.71656	0.89;0.974;0.905	T	0.83035	-0.0160	10	0.87932	D	0	.	11.9319	0.52851	0.0:0.8253:0.1747:0.0	.	89;89;123	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	M	123;89;89	ENSP00000357106:T123M;ENSP00000357107:T89M;ENSP00000387802:T89M	ENSP00000357106:T123M	T	+	2	0	0	CADM3	157429028	157429028	0.921000	0.31238	0.077000	0.20336	0.089000	0.18198	5.400000	0.66320	2.708000	0.92522	0.650000	0.86243	ACG		0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		20.913589	12	12	76	76	NM_021189		10	27.454489	27.454489	51	0.163934	0	0	0	1	0	10	51	0.163934
CFAP70	118491	broad.mit.edu	37	10	75053041	75053041	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr10:75053041C>T	ENST00000310715.3	-	17	2080	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T	TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000401621.2_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		654						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TATGCTGCTGCCATCTCAAAG	0.348																																						ENST00000401621.2											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1960-1962)Gca>Aca	tetratricopeptide repeat domain 18						108.0	95.0	99.0					10																	75053041		2203	4300	6503	SO:0001583	missense	118491					binding	g.chr10:75053041C>T																																																	ENST00000310715.3:c.1960G>A	10.37:g.75053041C>T	ENSP00000310829:p.Ala654Thr		TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T|TTC18_ENST00000310715.3_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron	p.A654T			Q5T0N1	TTC18_HUMAN			17	2080	-	Prostate(51;0.0119)		654		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1960G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767914	0.90020	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	D;D;T;D	0.94232	-3.38;-3.38;-0.66;-3.38	5.63	5.63	0.86233	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97782	1.0233	10	0.87932	D	0	-20.0741	17.1754	0.86840	0.0:1.0:0.0:0.0	.	654	Q5T0N1	TTC18_HUMAN	T	654;654;654;61;654	ENSP00000310829:A654T;ENSP00000384479:A654T;ENSP00000409527:A61T;ENSP00000378334:A654T	ENSP00000310829:A654T	A	-	1	0	0	TTC18	74723047	74723047	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.093000	0.71422	2.632000	0.89209	0.557000	0.71058	GCA		0.348	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			13.230382	-35	-35	39	39			6	16.368563	16.368563	27	0.181818	0	0	0	1	0	6	27	0.181818
LIPI	149998	broad.mit.edu	37	21	15554114	15554114	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr21:15554114G>T	ENST00000536861.1	-	4	607	c.608C>A	c.(607-609)gCa>gAa	p.A203E	LIPI_ENST00000344577.2_Missense_Mutation_p.A224E			Q6XZB0	LIPI_HUMAN	lipase, member I	203					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CACAAACTTTGCATCCGTGTA	0.388																																						ENST00000344577.2											0			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(670-672)gCa>gAa	lipase, member I						103.0	96.0	98.0					21																	15554114		2203	4300	6503	SO:0001583	missense	149998			lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554114G>T	BC028732	BC028732	CCDS13564.1	CCDS13564.1	21q11.2	2012-07-31			2012-07-31			ENSG00000188992	ENSG00000188992	ENSG00000188992	ENSG00000188992				18821	18821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252	609252						12719377	12719377	Standard	Standard	XM_005260924	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	uc002yjm.3	Q6XZB0	Q6XZB0	OTTHUMG00000074258	OTTHUMG00000074258	ENST00000536861.1:c.608C>A	21.37:g.15554114G>T	ENSP00000440381:p.Ala203Glu		LIPI_ENST00000536861.1_Missense_Mutation_p.A203E	p.A224E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	4	696	-			203		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.671C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.95001|.	-3.58;-3.58|.	5.46|5.46	5.46|5.46	0.80206|0.80206	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91009|.	0.7172|.	H|H	0.98446|0.98446	4.235|4.235	0.52099|0.52099	D|D	0.999943|0.999943	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.94103|.	0.7364|.	10|.	0.87932|.	D|.	0|.	.|.	19.3027|19.3027	0.94149|0.94149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	203;224|.	G1JSG6;Q6XZB0-2|.	.;.|.	E|X	224;203;98|82	ENSP00000343331:A224E;ENSP00000440381:A203E|.	ENSP00000343331:A224E|.	A|C	-|-	2|3	0|2	0|2	LIPI|LIPI	14475985|14475985	14475985|14475985	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.375000|0.375000	0.29983|0.29983	8.714000|8.714000	0.91412|0.91412	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.388	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			4.903207	0	0	52	52	NM_198996		6	14.240812	14.240812	53	0.101695	1	0	5.9392e-07	1	5.9392e-07	6	53	0.101695
DDR2	4921	broad.mit.edu	37	1	162737092	162737092	+	Silent	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162737092C>T	ENST00000367922.3	+	12	1674	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	DDR2_ENST00000367921.3_Silent_p.L412L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	412					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTTTATCCTCCTGGCCATCA	0.483																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3											0			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1234-1236)ctC>ctT	discoidin domain receptor tyrosine kinase 2						166.0	149.0	154.0					1																	162737092		2203	4300	6503	SO:0001819	synonymous_variant	4921			cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162737092C>T	AK095975	AK095975	CCDS1241.1	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	ENSG00000162733	ENSG00000162733	2.7.10.1			2731	2731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			191311	191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	9659899	Standard	Standard	XM_005245221	XM_005245221		Approved	TKT	uc001gcg.3	uc001gcg.3	Q16832	Q16832	OTTHUMG00000034423	OTTHUMG00000034423	ENST00000367922.3:c.1236C>T	1.37:g.162737092C>T			DDR2_ENST00000367921.3_Silent_p.L412L	p.L412L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		12	1674	+	all_hematologic(112;0.115)				Q7Z730	Silent	SNP	ENST00000367922.3	37	c.1236C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417808	0.25552	.	.	ENSG00000162733	ENST00000433757	.	.	.	5.79	-2.79	0.05841	5.79	-2.79	0.05841	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.23904	-1.0175	3	.	.	.	.	8.0521	0.30583	0.0:0.1749:0.5007:0.3243	.	.	.	.	S	5	.	.	P	+	1	0	0	DDR2	161003716	161003716	0.478000	0.25917	0.987000	0.45799	0.998000	0.95712	-0.415000	0.07106	-0.133000	0.11537	0.655000	0.94253	CCT		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2		53.331744	-21	-21	79	79	NM_006182		21	58.639751	58.639751	66	0.241379	0	0	0	1	0	21	66	0.241379
OGFR	11054	broad.mit.edu	37	20	61444363	61444363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr20:61444363delG	ENST00000290291.6	+	7	1421	c.1396delG	c.(1396-1398)gggfs	p.G466fs	OGFR_ENST00000370461.1_Frame_Shift_Del_p.G414fs	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	466					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TGAGGGTGCTGGGGACAGTGC	0.697																																						ENST00000370461.1											0			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1240-1242)gggfs	opioid growth factor receptor						33.0	37.0	36.0					20																	61444363		2193	4292	6485	SO:0001589	frameshift_variant	11054			regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444363delG	AF109134	AF109134	CCDS13504.1	CCDS13504.1	20q13.3	2008-05-02			2008-05-02			ENSG00000060491	ENSG00000060491	ENSG00000060491	ENSG00000060491				15768	15768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606459	606459						10677613	10677613	Standard	Standard	NM_007346	NM_007346		Approved	7-60	uc002ydj.3	uc002ydj.3	Q9NZT2	Q9NZT2	OTTHUMG00000032937	OTTHUMG00000032937	ENST00000290291.6:c.1396delG	20.37:g.61444363delG	ENSP00000290291:p.Gly466fs		OGFR_ENST00000290291.6_Frame_Shift_Del_p.G466fs	p.G414fs			Q9NZT2	OGFR_HUMAN			5	3517	+	Breast(26;3.65e-08)		466		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Frame_Shift_Del	DEL	ENST00000290291.6	37	c.1240delG	CCDS13504.1																																																																																									0.697	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	.	.	-1	-1	12	12			2			4	0.33						2	4	0.33
SRSF2	6427	broad.mit.edu	37	17	74732373	74732390	+	In_Frame_Del	DEL	GATCTGGAGACCGACGAG	GATCTGGAGACCGACGAG	-			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr17:74732373_74732390delGATCTGGAGACCGACGAG	ENST00000392485.2	-	2	691_708	c.519_536delCTCGTCGGTCTCCAGATC	c.(517-537)tcctcgtcggtctccagatct>tct	p.173_179SSSVSRS>S	MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.161_167SSSVSRS>S|MFSD11_ENST00000590514.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.173_179SSSVSRS>S|MFSD11_ENST00000355954.3_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	173	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S179C(1)|p.S159C(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACT	0.615			Mis		"""MDS, CLL"""																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	2	Substitution - Missense(2)	lung(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(517-537)tcctcgtcggtctccagatct>tct	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732373_74732390delGATCTGGAGACCGACGAG	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	"""SR splicing factor 2"""	600813	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.519_536delCTCGTCGGTCTCCAGATC	17.37:g.74732373_74732390delGATCTGGAGACCGACGAG	ENSP00000376276:p.Ser173_Arg178del		SRSF2_ENST00000508921.3_In_Frame_Del_p.161_167SSSVSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.173_179SSSVSRS>S|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	p.173_179SSSVSRS>S	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	691_708	-			173	Arg/Ser-rich (RS domain).	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.519_536delCTCGTCGGTCTCCAGATC	CCDS11749.1																																																																																									0.615	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-19	-19	72	72	NM_003016		10			56	0.15						10	56	0.15
BAP1	8314	broad.mit.edu	37	3	52441252	52441252	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr3:52441252T>C	ENST00000460680.1	-	7	989	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	BAP1_ENST00000296288.5_Missense_Mutation_p.Y173C	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E166fs*13(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GATAGGCACATAGCTGACAAA	0.582			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(517-519)tAt>tGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						80.0	78.0	79.0					3																	52441252		2203	4300	6503	SO:0001583	missense	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441252T>C	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.518A>G	3:g.52441252T>C	ENSP00000417132:p.Tyr173Cys		BAP1_ENST00000296288.5_Missense_Mutation_p.Y173C	p.Y173C	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	7	989	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1		c.518A>G	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489191	0.84962	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.61859	0.07;0.07;0.07	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86417	0.1752	10	0.87932	D	0	-9.1034	16.6	0.84812	0.0:0.0:0.0:1.0	.	173	Q92560	BAP1_HUMAN	C	173;173;94	ENSP00000417132:Y173C;ENSP00000296288:Y173C;ENSP00000417776:Y94C	ENSP00000296288:Y173C	Y	-	2	0	0	BAP1	52416292	52416292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.005000	0.88553	2.323000	0.78572	0.533000	0.62120	TAT		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.023000e+01	1.158000e+01	-29	-29	39	39			4			21	1.820000e-01						4	21	0.182
