#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
SERPINB9	5272	broad.mit.edu	37	6	2893754	2893754	+	Missense_Mutation	SNP	A	A	G	rs144457124	byFrequency	TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr6:2893754A>G	ENST00000380698.4	-	5	547	c.458T>C	c.(457-459)aTt>aCt	p.I153T		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	153					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTCTGCATCAATTGAGCTACC	0.398													A|||	4	0.000798722	0.0015	0.0014	5008	,	,		15586	0.0		0.0	False		,,,				2504	0.001					ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(457-459)aTt>aCt		serpin peptidase inhibitor, clade B (ovalbumin), member 9		A	THR/ILE	5,4401	9.9+/-24.2	0,5,2198	127.0	123.0	124.0		458	4.2	0.0	6	dbSNP_134	124	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SERPINB9	NM_004155.4	89	0,8,6495	GG,GA,AA		0.0349,0.1135,0.0615	possibly-damaging	153/377	2893754	8,12998	2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2893754A>G	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.458T>C	6.37:g.2893754A>G	ENSP00000370074:p.Ile153Thr						p.I153T	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			5	547	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	153					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.458T>C	CCDS4478.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	18.28	3.588696	0.66105	0.001135	3.49E-4	ENSG00000170542	ENST00000380698	D	0.86030	-2.06	4.21	4.21	0.49690	Serpin domain (3);	0.359235	0.33217	N	0.005153	D	0.86732	0.6003	M	0.84156	2.68	0.20196	N	0.99992	P	0.41569	0.755	P	0.51453	0.67	T	0.81415	-0.0943	10	0.66056	D	0.02	.	13.4922	0.61402	1.0:0.0:0.0:0.0	.	153	P50453	SPB9_HUMAN	T	153	ENSP00000370074:I153T	ENSP00000370074:I153T	I	-	2	0	SERPINB9	2838753	0.846000	0.29590	0.005000	0.12908	0.004000	0.04260	6.942000	0.75928	2.123000	0.65237	0.533000	0.62120	ATT		0.398	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			30	55	0	0	0	1	0	30	55				
LRRIQ1	84125	broad.mit.edu	37	12	85450448	85450448	+	Missense_Mutation	SNP	A	A	G			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:85450448A>G	ENST00000393217.2	+	8	1938	c.1877A>G	c.(1876-1878)gAa>gGa	p.E626G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	626										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGTAAGAGAAAACGTAATA	0.289																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1876-1878)gAa>gGa		leucine-rich repeats and IQ motif containing 1							28.0	30.0	29.0					12																	85450448		2198	4292	6490	SO:0001583	missense	84125							g.chr12:85450448A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1877A>G	12.37:g.85450448A>G	ENSP00000376910:p.Glu626Gly						p.E626G	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1938	+			626					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1877A>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	9.681	1.149205	0.21288	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52983	0.64	4.94	1.16	0.20824	.	1.152170	0.06532	N	0.741730	T	0.26376	0.0644	N	0.22421	0.69	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.30401	0.115;0.115	T	0.24297	-1.0164	10	0.41790	T	0.15	.	1.8679	0.03202	0.5525:0.1233:0.0954:0.2288	.	626;601	Q96JM4;C9JI57	LRIQ1_HUMAN;.	G	626;601;626	ENSP00000376910:E626G	ENSP00000256007:E626G	E	+	2	0	LRRIQ1	83974579	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.084000	0.11268	0.848000	0.35191	0.482000	0.46254	GAA		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	6	0	0	0	1	0	11	6				
BOD1L1	259282	broad.mit.edu	37	4	13600882	13600882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr4:13600882C>A	ENST00000040738.5	-	10	7777	c.7642G>T	c.(7642-7644)Gag>Tag	p.E2548*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2548						nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGAATGCTCAGCCACGGTC	0.483											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7642-7644)Gag>Tag		biorientation of chromosomes in cell division 1-like 1							86.0	74.0	78.0					4																	13600882		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13600882C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7642G>T	4.37:g.13600882C>A	ENSP00000040738:p.Glu2548*		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.E2548*	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7777	-			2548					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.7642G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	47	13.827079	0.99765	.	.	ENSG00000038219	ENST00000040738	.	.	.	4.57	3.72	0.42706	.	0.494861	0.18336	N	0.144337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7067	0.51601	0.0:0.8209:0.1791:0.0	.	.	.	.	X	2548	.	ENSP00000040738:E2548X	E	-	1	0	BOD1L	13209980	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.298000	0.19120	0.915000	0.36847	0.555000	0.69702	GAG		0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		6	7	1	0	0.0381472	1	0.0381472	6	7				
SEMA6D	80031	broad.mit.edu	37	15	48056089	48056089	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr15:48056089G>A	ENST00000316364.5	+	10	1229	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	264	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAACGACATGGGTGGTTCCCA	0.488																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(790-792)Ggt>Agt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							154.0	146.0	149.0					15																	48056089		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056089G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.790G>A	15.37:g.48056089G>A	ENSP00000324857:p.Gly264Ser					SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S	p.G264S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1229	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	264			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.790G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	37	6.008020	0.97195	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92761	0.6224	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	264;264;264;264;264	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	S	264	ENSP00000442040:G264S;ENSP00000446152:G264S;ENSP00000324857:G264S;ENSP00000374084:G264S;ENSP00000374083:G264S;ENSP00000346786:G264S;ENSP00000350770:G264S;ENSP00000374079:G264S;ENSP00000348276:G264S;ENSP00000374076:G264S	ENSP00000324857:G264S	G	+	1	0	SEMA6D	45843381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GGT		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		10	78	0	0	0	1	0	10	78				
TMEM105	284186	broad.mit.edu	37	17	79287591	79287591	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:79287591G>T	ENST00000332900.1	-	3	799	c.250C>A	c.(250-252)Cat>Aat	p.H84N		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	84						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGCCCTTCATGTCTTCGCCTT	0.652																																						ENST00000332900.1																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(250-252)Cat>Aat		transmembrane protein 105							56.0	66.0	63.0					17																	79287591		2203	4300	6503	SO:0001583	missense	284186					integral to membrane		g.chr17:79287591G>T	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.250C>A	17.37:g.79287591G>T	ENSP00000329795:p.His84Asn						p.H84N	NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	799	-	all_neural(118;0.0804)|Melanoma(429;0.242)		84						Missense_Mutation	SNP	ENST00000332900.1	37	c.250C>A	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	G	1.948	-0.441876	0.04604	.	.	ENSG00000185332	ENST00000332900	T	0.52754	0.65	0.96	-0.433	0.12287	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.17806	-1.0357	9	0.87932	D	0	.	3.9221	0.09248	0.0:0.0:0.5437:0.4563	.	84	Q8N8V8	TM105_HUMAN	N	84	ENSP00000329795:H84N	ENSP00000329795:H84N	H	-	1	0	TMEM105	76902186	0.020000	0.18652	0.010000	0.14722	0.075000	0.17131	-0.001000	0.12947	-0.130000	0.11599	0.313000	0.20887	CAT		0.652	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		31	59	1	0	6.38683e-12	1	7.4513e-12	31	59				
CNTN2	6900	broad.mit.edu	37	1	205031578	205031578	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:205031578A>T	ENST00000331830.4	+	10	1405	c.1121A>T	c.(1120-1122)gAg>gTg	p.E374V	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	374	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCGGGTGGAGGTGTTGGCT	0.622																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1120-1122)gAg>gTg		contactin 2 (axonal)							84.0	76.0	79.0					1																	205031578		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205031578A>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1121A>T	1.37:g.205031578A>T	ENSP00000330633:p.Glu374Val						p.E374V	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1405	+	all_cancers(21;0.144)|Breast(84;0.0437)		374			Ig-like C2-type 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1121A>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846782	0.91277	.	.	ENSG00000184144	ENST00000331830	T	0.67698	-0.28	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000098	T	0.61160	0.2325	N	0.16233	0.39	0.80722	D	1	P;P	0.44241	0.478;0.829	B;P	0.50378	0.444;0.639	T	0.60642	-0.7223	10	0.29301	T	0.29	.	15.2611	0.73625	1.0:0.0:0.0:0.0	.	374;265	Q02246;Q68DA2	CNTN2_HUMAN;.	V	374	ENSP00000330633:E374V	ENSP00000330633:E374V	E	+	2	0	CNTN2	203298201	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.787000	0.75099	2.091000	0.63221	0.528000	0.53228	GAG		0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		19	36	0	0	0	1	0	19	36				
TTN	7273	broad.mit.edu	37	2	179611732	179611732	+	Intron	SNP	G	G	A			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:179611732G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T5132I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGATATGTTTTAAAAGT	0.453																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15394-15396)aCa>aTa		titin							103.0	104.0	104.0					2																	179611732		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611732G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5084C>T	2.37:g.179611732G>A						TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T5132I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15617	-			1238					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15395C>T		.	.	.	.	.	.	.	.	.	.	G	3.350	-0.132718	0.06711	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.56941	0.43	5.83	-11.7	0.00046	.	.	.	.	.	T	0.25195	0.0612	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30357	-0.9981	9	0.62326	D	0.03	.	4.7504	0.13057	0.1075:0.4566:0.2688:0.1671	.	5132	Q8WZ42-6	.	I	5132;413	ENSP00000354117:T5132I	ENSP00000304714:T413I	T	-	2	0	TTN	179319977	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.649000	0.00858	-1.486000	0.01851	-0.961000	0.02630	ACA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	82	0	0	0	1	0	11	82				
SDHA	6389	broad.mit.edu	37	5	256498	256498	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr5:256498A>C	ENST00000264932.6	+	15	2073	c.1958A>C	c.(1957-1959)gAc>gCc	p.D653A	SDHA_ENST00000504309.1_Missense_Mutation_p.D572A|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	653					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACGAGGCTGACTGTGCCACC	0.433									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1957-1959)gAc>gCc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						76.0	85.0	82.0					5																	256498		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:256498A>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1958A>C	5.37:g.256498A>C	ENSP00000264932:p.Asp653Ala					SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.D572A|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A	p.D653A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		15	2073	+			653					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1958A>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.43	1.934307	0.34096	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72394	-0.65;0.08;-0.65	4.12	4.12	0.48240	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.129312	0.49916	U	0.000131	T	0.71584	0.3357	M	0.79926	2.475	0.58432	D	0.999997	B;P;B;B	0.40197	0.417;0.706;0.297;0.044	B;B;B;B	0.39935	0.314;0.261;0.099;0.046	T	0.76391	-0.2976	10	0.87932	D	0	.	11.0821	0.48066	1.0:0.0:0.0:0.0	.	605;247;572;653	E9PBJ5;B3KYA5;D6RFM5;P31040	.;.;.;DHSA_HUMAN	A	653;508;572;605	ENSP00000264932:D653A;ENSP00000426514:D572A;ENSP00000427703:D605A	ENSP00000264932:D653A	D	+	2	0	SDHA	309498	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	6.351000	0.73022	1.517000	0.48917	0.254000	0.18369	GAC		0.433	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	62	0	0	0	1	0	4	62				
AFTPH	54812	broad.mit.edu	37	2	64800181	64800181	+	Silent	SNP	A	A	G			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:64800181A>G	ENST00000422803.1	+	6	2687	c.2373A>G	c.(2371-2373)acA>acG	p.T791T	AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	791					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATATGAACACATGTACATCTG	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2371-2373)acA>acG		aftiphilin							157.0	156.0	156.0					2																	64800181		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64800181A>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2373A>G	2.37:g.64800181A>G						AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T	p.T791T			Q6ULP2	AFTIN_HUMAN			6	2687	+			791					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.2373A>G																																																																																					0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		51	68	0	0	0	1	0	51	68				
AHCTF1	25909	broad.mit.edu	37	1	247014132	247014132	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:247014132T>C	ENST00000391829.2	-	33	5299	c.5176A>G	c.(5176-5178)Atg>Gtg	p.M1726V	AHCTF1_ENST00000366508.1_Missense_Mutation_p.M1761V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1726	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGACATTCATAGTCATTGTG	0.413																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5281-5283)Atg>Gtg		AT hook containing transcription factor 1							70.0	69.0	69.0					1																	247014132		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014132T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5176A>G	1.37:g.247014132T>C	ENSP00000375705:p.Met1726Val					AHCTF1_ENST00000391829.2_Missense_Mutation_p.M1726V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V	p.M1761V			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5417	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1726			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5281A>G		.	.	.	.	.	.	.	.	.	.	T	0	-2.727340	0.00091	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.23147	1.92;1.93;1.93	5.69	-5.59	0.02505	.	0.871026	0.10224	N	0.700501	T	0.05731	0.0150	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36040	-0.9764	10	0.10636	T	0.68	-0.6399	2.2187	0.03967	0.266:0.3647:0.0938:0.2754	.	587;1761;1726	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	V	1761;1735;1726	ENSP00000355464:M1761V;ENSP00000355465:M1735V;ENSP00000375705:M1726V	ENSP00000355465:M1735V	M	-	1	0	AHCTF1	245080755	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.006000	0.01459	-0.704000	0.05042	-0.530000	0.04314	ATG		0.413	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		18	43	0	0	0	1	0	18	43				
FAM73B	84895	broad.mit.edu	37	9	131832580	131832580	+	Missense_Mutation	SNP	A	A	C			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr9:131832580A>C	ENST00000358369.4	+	16	1856	c.1630A>C	c.(1630-1632)Acg>Ccg	p.T544P	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	544					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGTGCGCTACACGTCACTGCC	0.672																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1630-1632)Acg>Ccg		family with sequence similarity 73, member B							69.0	53.0	58.0					9																	131832580		2203	4299	6502	SO:0001583	missense	84895					integral to membrane		g.chr9:131832580A>C	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1630A>C	9.37:g.131832580A>C	ENSP00000351138:p.Thr544Pro					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.T544P	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			16	1856	+			544					Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.1630A>C	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789553	0.70337	.	.	ENSG00000148343	ENST00000358369	T	0.25749	1.78	5.67	5.67	0.87782	.	0.153383	0.56097	D	0.000023	T	0.52805	0.1757	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.68483	0.958;0.864	T	0.58171	-0.7683	10	0.66056	D	0.02	.	15.0946	0.72223	1.0:0.0:0.0:0.0	.	120;544	Q96NP4;Q7L4E1	.;FA73B_HUMAN	P	544	ENSP00000351138:T544P	ENSP00000351138:T544P	T	+	1	0	FAM73B	130872401	1.000000	0.71417	0.997000	0.53966	0.743000	0.42351	5.739000	0.68622	2.155000	0.67459	0.533000	0.62120	ACG		0.672	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		14	26	0	0	0	1	0	14	26				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	79	0	0	0	1	0	4	79				
GNB3	2784	broad.mit.edu	37	12	6954872	6954872	+	Silent	SNP	G	G	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:6954872G>T	ENST00000229264.3	+	10	1227	c.822G>T	c.(820-822)acG>acT	p.T274T	GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	274					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCGGCATCACGTCCGTGGCCT	0.592																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(820-822)acG>acT		guanine nucleotide binding protein (G protein), beta polypeptide 3							178.0	165.0	170.0					12																	6954872		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954872G>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.822G>T	12.37:g.6954872G>T						CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR	p.T274T	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1227	+			274					Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.822G>T	CCDS8564.1																																																																																				0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		5	117	1	0	1.23904e-05	1	1.36947e-05	5	117				
ABCA13	154664	broad.mit.edu	37	7	48258974	48258974	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr7:48258974C>T	ENST00000435803.1	+	4	335	c.311C>T	c.(310-312)gCt>gTt	p.A104V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	104					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTGCAGCTGACCCCAAG	0.353																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(310-312)gCt>gTt		ATP-binding cassette, sub-family A (ABC1), member 13							51.0	50.0	50.0					7																	48258974		1811	4079	5890	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48258974C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.311C>T	7.37:g.48258974C>T	ENSP00000411096:p.Ala104Val						p.A104V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	335	+			104					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.311C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980780	0.53827	.	.	ENSG00000179869	ENST00000435803	T	0.30448	1.53	5.58	-0.495	0.12030	.	0.948002	0.08702	N	0.906327	T	0.20333	0.0489	L	0.40543	1.245	0.09310	N	1	B;B	0.28850	0.144;0.225	B;B	0.30316	0.053;0.114	T	0.31806	-0.9930	10	0.37606	T	0.19	.	1.1013	0.01684	0.3659:0.3186:0.1385:0.177	.	104;104	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	V	104	ENSP00000411096:A104V	ENSP00000409268:A104V	A	+	2	0	ABCA13	48229520	0.000000	0.05858	0.001000	0.08648	0.452000	0.32318	0.024000	0.13555	0.080000	0.16959	0.655000	0.94253	GCT		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	24	0	0	0	1	0	13	24				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			2	4						2	4	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			653390							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			3	6						3	6	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29541548	29541549	+	Frame_Shift_Ins	INS	-	-	TT	rs199474757		TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:29541548_29541549insTT	ENST00000358273.4	+	13	1855_1856	c.1472_1473insTT	c.(1471-1476)tatcttfs	p.L492fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L492fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.L492fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	492					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.?(5)	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)		AGCTATAAGTATCTTCTCTTGT	0.297			"""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)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|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	GRCh37	CM000781	NF1	M		c.(1471-1473)tctfs		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.chr17:29541548_29541549insTT		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.29541548_29541549insTT	ENSP00000351015:p.Leu492fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.S491fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.S491fs	p.S491fs	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)	13	1855_1856	+		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)	491		Y -> C (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1472_1473insTT	CCDS42292.1																																																																																				0.297	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		21	12						21	12	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39101968	39101968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr22:39101968delC	ENST00000216044.5	+	1	241	c.8delC	c.(7-9)acgfs	p.T3fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	3					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAGATGGCGACGGAGCGCAGT	0.672																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(7-9)agfs		GTP binding protein 1							2.0	2.0	2.0					22																	39101968		1693	3479	5172	SO:0001589	frameshift_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39101968delC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.8delC	22.37:g.39101968delC	ENSP00000216044:p.Thr3fs						p.T3fs	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			1	241	+	Melanoma(58;0.04)		3					Q6IC67	Frame_Shift_Del	DEL	ENST00000216044.5	37	c.8delC	CCDS13977.2																																																																																				0.672	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		2	4						2	4	---	---	---	---
