#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RTN4RL1	146760	broad.mit.edu	37	17	1839884	1839884	+	Missense_Mutation	SNP	C	C	T	rs563904841	byFrequency	TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:1839884C>T	ENST00000331238.6	-	2	1711	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCTGGGGGCACGGATGGGGGT	0.672													C|||	2	0.000399361	0.0	0.0029	5008	,	,		13890	0.0		0.0	False		,,,				2504	0.0				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(1231-1233)cGt>cAt		reticulon 4 receptor-like 1							13.0	14.0	14.0					17																	1839884		1916	4119	6035	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1839884C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1232G>A	17.37:g.1839884C>T	ENSP00000330631:p.Arg411His						p.R411H	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	1250	-			411						Missense_Mutation	SNP	ENST00000331238.6	37	c.1232G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671333	0.67814	.	.	ENSG00000185924	ENST00000331238	T	0.68479	-0.33	5.48	4.42	0.53409	.	0.201610	0.24912	N	0.034615	T	0.65165	0.2665	L	0.32530	0.975	0.45718	D	0.998623	D	0.67145	0.996	P	0.50490	0.642	T	0.70051	-0.4978	10	0.66056	D	0.02	.	16.1114	0.81266	0.1904:0.8096:0.0:0.0	.	411	Q86UN2	R4RL1_HUMAN	H	411	ENSP00000330631:R411H	ENSP00000330631:R411H	R	-	2	0	RTN4RL1	1786634	0.962000	0.33011	1.000000	0.80357	0.995000	0.86356	2.241000	0.43097	2.597000	0.87782	0.549000	0.68633	CGT		0.672	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		3	1	0	0	0	1	0	3	1				
EIF3B	8662	broad.mit.edu	37	7	2412395	2412395	+	Missense_Mutation	SNP	A	A	G	rs150678614		TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:2412395A>G	ENST00000360876.4	+	12	1831	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGTCTTTCTACCACGTCAAA	0.483																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1774-1776)tAc>tGc		eukaryotic translation initiation factor 3, subunit B		A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	108.0	95.0	99.0		1775,1775	5.6	1.0	7	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	EIF3B	NM_001037283.1,NM_003751.3	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	592/815,592/815	2412395	1,13005	2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412395A>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1775A>G	7.37:g.2412395A>G	ENSP00000354125:p.Tyr592Cys					EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C	p.Y592C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	12	1831	+		Ovarian(82;0.0253)	592						Missense_Mutation	SNP	ENST00000360876.4	37	c.1775A>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574218	0.86542	2.27E-4	0.0	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.06933	3.24;3.24	5.55	5.55	0.83447	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52117	-0.8618	10	0.87932	D	0	-35.384	15.6886	0.77430	1.0:0.0:0.0:0.0	.	592	P55884	EIF3B_HUMAN	C	592;592;592;516	ENSP00000354125:Y592C;ENSP00000380206:Y592C	ENSP00000316638:Y592C	Y	+	2	0	EIF3B	2378921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.105000	0.94246	2.110000	0.64415	0.533000	0.62120	TAC		0.483	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	30	0	0	0	1	0	4	30				
SPTB	6710	broad.mit.edu	37	14	65220494	65220494	+	Silent	SNP	C	C	T			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr14:65220494C>T	ENST00000556626.1	-	33	6505	c.6363G>A	c.(6361-6363)acG>acA	p.T2121T	SPTB_ENST00000389722.3_Silent_p.T2121T|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTGAGGCCACGTTCCCTCTT	0.592																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6361-6363)acG>acA		spectrin, beta, erythrocytic							50.0	51.0	51.0					14																	65220494		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65220494C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6363G>A	14.37:g.65220494C>T						SPTB_ENST00000556626.1_Silent_p.T2121T|SPTB_ENST00000342835.4_5'UTR	p.T2121T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	32	6416	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Silent	SNP	ENST00000556626.1	37	c.6363G>A	CCDS32099.1																																																																																				0.592	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			4	55	0	0	0	1	0	4	55				
ARHGEF10L	55160	broad.mit.edu	37	1	17930054	17930054	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:17930054T>G	ENST00000361221.3	+	6	560	c.401T>G	c.(400-402)gTc>gGc	p.V134G	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375420.3_5'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	134						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TATGACGACGTCCCCTGCGAG	0.617																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(400-402)gTc>gGc		Rho guanine nucleotide exchange factor (GEF) 10-like							116.0	94.0	101.0					1																	17930054		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17930054T>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.401T>G	1.37:g.17930054T>G	ENSP00000355060:p.Val134Gly					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375420.3_5'UTR	p.V134G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	6	560	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	134					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.401T>G	CCDS182.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879999	0.72294	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.78364	-0.65;-1.17;-0.82;-1.17	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85609	0.5736	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.921;0.999;0.999	D	0.86792	0.1986	10	0.72032	D	0.01	-38.9925	11.6684	0.51387	0.0:0.0:0.0:1.0	.	134;134;134;134	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	G	134	ENSP00000355060:V134G;ENSP00000399401:V134G;ENSP00000394621:V134G;ENSP00000364564:V134G	ENSP00000355060:V134G	V	+	2	0	ARHGEF10L	17802641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.048000	0.64238	1.782000	0.52362	0.533000	0.62120	GTC		0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		9	13	0	0	0	1	0	9	13				
CRHR2	1395	broad.mit.edu	37	7	30695314	30695314	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:30695314G>C	ENST00000471646.1	-	10	1352	c.935C>G	c.(934-936)aCc>aGc	p.T312S	CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S|CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCACCAGGGTGGCCTTCAC	0.622																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(934-936)aCc>aGc		corticotropin releasing hormone receptor 2							137.0	133.0	134.0					7																	30695314		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695314G>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.935C>G	7.37:g.30695314G>C	ENSP00000418722:p.Thr312Ser					CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S|CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S	p.T312S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			10	1352	-			312					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.935C>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982530	0.74474	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.88979	2.995	0.80722	D	1	D;D;D;P;D	0.59767	0.986;0.986;0.982;0.951;0.986	D;D;P;P;P	0.65323	0.934;0.91;0.854;0.769;0.889	T	0.72404	-0.4304	10	0.72032	D	0.01	.	16.4065	0.83671	0.0:0.0:1.0:0.0	.	311;312;339;298;312	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	S	312;339;298;312	ENSP00000418722:T312S;ENSP00000340943:T339S;ENSP00000344304:T298S;ENSP00000426498:T312S	ENSP00000344304:T298S	T	-	2	0	CRHR2	30661839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.830000	0.99415	2.533000	0.85409	0.561000	0.74099	ACC		0.622	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			47	66	0	0	0	1	0	47	66				
ZNF131	7690	broad.mit.edu	37	5	43174694	43174694	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr5:43174694A>G	ENST00000399534.1	+	7	1375	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000509634.1_Missense_Mutation_p.N410S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S			P52739	ZN131_HUMAN	zinc finger protein 131	444					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GATGCTCACAATATTTCAGAG	0.378																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1228-1230)aAt>aGt		zinc finger protein 131							119.0	109.0	112.0					5																	43174694		1919	4125	6044	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174694A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1331A>G	5.37:g.43174694A>G	ENSP00000382450:p.Asn444Ser					ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.N444S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S	p.N410S			P52739	ZN131_HUMAN			7	1685	+			444					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1229A>G		.	.	.	.	.	.	.	.	.	.	A	7.271	0.607235	0.14002	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39	5.61	5.61	0.85477	.	0.250952	0.40554	N	0.001065	T	0.09379	0.0231	N	0.12887	0.27	0.33836	D	0.630915	D;B	0.63880	0.993;0.376	D;B	0.68192	0.956;0.084	T	0.05533	-1.0879	10	0.02654	T	1	-18.9149	15.8002	0.78447	1.0:0.0:0.0:0.0	.	444;410	P52739;P52739-2	ZN131_HUMAN;.	S	444;410;444;410;410	ENSP00000426504:N444S;ENSP00000305804:N410S;ENSP00000382450:N444S;ENSP00000423945:N410S;ENSP00000421246:N410S	ENSP00000305804:N410S	N	+	2	0	ZNF131	43210451	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.478000	0.45189	2.135000	0.66039	0.377000	0.23210	AAT		0.378	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		3	54	0	0	0	1	0	3	54				
DNM1P47	100216544	broad.mit.edu	37	15	102312207	102312207	+	RNA	SNP	A	A	G	rs75381810	byFrequency	TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr15:102312207A>G	ENST00000561463.1	+	0	13575				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		CTCCTGGACCAGGCTCATCAG	0.622																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102312207A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312207A>G														0	13575	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.622	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	24	0	0	0	1	0	7	24				
MXRA5	25878	broad.mit.edu	37	X	3238548	3238548	+	Silent	SNP	G	G	A			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chrX:3238548G>A	ENST00000217939.6	-	5	5332	c.5178C>T	c.(5176-5178)tcC>tcT	p.S1726S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1726						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCTTCCATTGGAATAATGAG	0.463																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5176-5178)tcC>tcT		matrix-remodelling associated 5							69.0	65.0	67.0					X																	3238548		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238548G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5178C>T	X.37:g.3238548G>A							p.S1726S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5332	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1726					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5178C>T	CCDS14124.1																																																																																				0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		13	26	0	0	0	1	0	13	26				
TBC1D31	93594	broad.mit.edu	37	8	124146352	124146352	+	Splice_Site	SNP	A	A	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr8:124146352A>G	ENST00000287380.1	+	17	2496		c.e17-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000327098.5_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GTTTGGCCATAGGTATATATG	0.328																																						ENST00000287380.1																			0											c.e17-1		TBC1 domain family, member 31							85.0	90.0	88.0					8																	124146352		2203	4300	6503	SO:0001630	splice_region_variant	93594							g.chr8:124146352A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2407-1A>G	8.37:g.124146352A>G						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site		NM_145647.3	NP_663622.2					17	2496	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	SNP	ENST00000287380.1	37		CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725255	0.48833	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8355	0.63406	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR67	124215533	1.000000	0.71417	0.845000	0.33349	0.025000	0.11179	7.044000	0.76578	2.089000	0.63090	0.533000	0.62120	.		0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	3	49	0	0	0	1	0	3	49				
AMER1	139285	broad.mit.edu	37	X	63412960	63412960	+	Silent	SNP	C	C	A			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chrX:63412960C>A	ENST00000330258.3	-	2	479	c.207G>T	c.(205-207)ctG>ctT	p.L69L	AMER1_ENST00000374869.3_Silent_p.L69L|AMER1_ENST00000403336.1_Silent_p.L69L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	69					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AGAAACTAGGCAGAGTACAGA	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(205-207)ctG>ctT		APC membrane recruitment protein 1							148.0	119.0	129.0					X																	63412960		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63412960C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.207G>T	X.37:g.63412960C>A						AMER1_ENST00000403336.1_Silent_p.L69L|AMER1_ENST00000374869.3_Silent_p.L69L	p.L69L	NM_152424.3	NP_689637.3					2	479	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.207G>T	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		36	32	1	0	5.43694e-19	1	5.43694e-19	36	32				
BCAR1	9564	broad.mit.edu	37	16	75263909	75263909	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr16:75263909C>T	ENST00000162330.5	-	7	2239	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	BCAR1_ENST00000546196.1_Missense_Mutation_p.E676K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000566982.1_5'UTR|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K|BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2026-2028)Gaa>Aaa		breast cancer anti-estrogen resistance 1							29.0	34.0	33.0					16																	75263909		2157	4228	6385	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263909C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2113G>A	16.37:g.75263909C>T	ENSP00000162330:p.Glu705Lys					BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000162330.5_Missense_Mutation_p.E705K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000566982.1_5'UTR	p.E676K			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3678	-			705					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2026G>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714474	0.68730	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	4.72	4.72	0.59763	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.992;0.999;0.992;0.99;0.99;0.992;0.999;0.992;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.987;0.994;0.987;0.979;0.979;0.987;0.994;0.987;0.997	T	0.21314	-1.0249	10	0.38643	T	0.18	-40.4241	16.6397	0.85068	0.0:1.0:0.0:0.0	.	723;557;751;703;723;723;705;705;495	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	K	705;723;723;705;751;557;723;703;676	ENSP00000162330:E705K;ENSP00000377074:E723K;ENSP00000392708:E723K;ENSP00000443841:E705K;ENSP00000391669:E751K;ENSP00000440370:E557K;ENSP00000377072:E723K;ENSP00000440415:E703K;ENSP00000442161:E676K	ENSP00000162330:E705K	E	-	1	0	BCAR1	73821410	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.983000	0.49345	2.328000	0.79073	0.557000	0.71058	GAA		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		20	19	0	0	0	1	0	20	19				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	284802							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	84	0	0	0	1	0	6	84				
PQLC2	54896	broad.mit.edu	37	1	19644309	19644309	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:19644309T>G	ENST00000375153.3	+	2	778	c.138T>G	c.(136-138)atT>atG	p.I46M	RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	46	PQ-loop 1.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCTCCATTCTCTGCTTTG	0.617																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(136-138)atT>atG		PQ loop repeat containing 2							288.0	279.0	282.0					1																	19644309		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19644309T>G	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.138T>G	1.37:g.19644309T>G	ENSP00000364295:p.Ile46Met					PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M|PQLC2_ENST00000400548.2_Intron	p.I46M	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	778	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	46			PQ-loop 1.		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.138T>G	CCDS195.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256795	0.59321	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	D;D	0.98381	-4.9;-4.9	5.5	-3.68	0.04463	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	M	0.73372	2.23	0.80722	D	1	P	0.51057	0.941	P	0.57548	0.823	D	0.95218	0.8331	10	0.42905	T	0.14	-12.9651	10.1331	0.42691	0.1468:0.6633:0.0:0.1899	.	46	Q6ZP29	PQLC2_HUMAN	M	46	ENSP00000364297:I46M;ENSP00000364295:I46M	ENSP00000364295:I46M	I	+	3	3	PQLC2	19516896	0.000000	0.05858	0.737000	0.30932	0.990000	0.78478	-0.240000	0.08952	-0.222000	0.09958	0.391000	0.25812	ATT		0.617	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		27	153	0	0	0	1	0	27	153				
PIK3C2A	5286	broad.mit.edu	37	11	17170220	17170220	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr11:17170220A>C	ENST00000265970.7	-	4	1441	c.1442T>G	c.(1441-1443)cTg>cGg	p.L481R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	481	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTACTTCTGCAGCACTTCCTC	0.323																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1441-1443)cTg>cGg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						101.0	91.0	94.0					11																	17170220		2200	4292	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17170220A>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1442T>G	11.37:g.17170220A>C	ENSP00000265970:p.Leu481Arg					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R	p.L481R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			4	1441	-			481					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1442T>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412266	0.83340	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.63096	-0.02;-0.02	5.11	5.11	0.69529	Phosphoinositide 3-kinase, ras-binding (2);	0.000000	0.64402	D	0.000001	T	0.80523	0.4639	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83986	0.0335	10	0.87932	D	0	-5.4831	15.1796	0.72945	1.0:0.0:0.0:0.0	.	481;481	F5H5W9;O00443	.;P3C2A_HUMAN	R	481;101;481	ENSP00000265970:L481R;ENSP00000438687:L101R	ENSP00000265970:L481R	L	-	2	0	PIK3C2A	17126796	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.810000	0.91950	2.056000	0.61249	0.482000	0.46254	CTG		0.323	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		3	28	0	0	0	1	0	3	28				
MGAM	8972	broad.mit.edu	37	7	141764301	141764301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:141764301delC	ENST00000549489.2	+	37	4558	c.4463delC	c.(4462-4464)tccfs	p.S1488fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.S1488fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1488	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGGGTGGTCCCAGACCAGA	0.552																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4462-4464)tcfs		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						23.0	25.0	24.0					7																	141764301		1998	4170	6168	SO:0001589	frameshift_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141764301delC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4463delC	7.37:g.141764301delC	ENSP00000447378:p.Ser1488fs					MGAM_ENST00000549489.2_Frame_Shift_Del_p.S1488fs	p.S1488fs			O43451	MGA_HUMAN			37	4517	+	Melanoma(164;0.0272)		1488			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	c.4463delC	CCDS47727.1																																																																																				0.552	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29552214	29552215	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:29552214_29552215insG	ENST00000358273.4	+	17	2330_2331	c.1947_1948insG	c.(1948-1950)ttafs	p.L650fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L650fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	650					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATGAAGAATTACTACGTAC	0.421			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1945-1950)gatactfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552214_29552215insG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29552214_29552215insG	ENSP00000351015:p.Leu650fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.DT649fs	p.DT649fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2330_2331	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	649					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1947_1948insG	CCDS42292.1																																																																																				0.421	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		45	12						45	12	---	---	---	---
