#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
SCN4B	6330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118014578C>T	ENST00000324727.4	-	3	579	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SCN4B_ENST00000423160.2_5'Flank|SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	145	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGATGGTGGCGTGGTGCTGG	0.547																																																0													211.0	202.0	205.0					11																	118014578		2200	4296	6496	SO:0001583	missense	6330			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.433G>A	11.37:g.118014578C>T	ENSP00000322460:p.Ala145Thr		E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673600	0.88445	.	.	ENSG00000177098	ENST00000324727	D	0.94862	-3.54	4.44	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96852	0.9626	10	0.52906	T	0.07	-31.5254	15.925	0.79609	0.0:1.0:0.0:0.0	.	145	Q8IWT1	SCN4B_HUMAN	T	145	ENSP00000322460:A145T	ENSP00000322460:A145T	A	-	1	0	SCN4B	117519788	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	5.017000	0.64047	2.021000	0.59480	0.558000	0.71614	GCC		0.547	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			25	37	25	37
DEPDC4	120863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	100656178	100656178	+	Nonsense_Mutation	SNP	A	A	C	rs374260139		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:100656178A>C	ENST00000416321.1	-	3	566	c.564T>G	c.(562-564)taT>taG	p.Y188*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	188					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATCATTTCATATCCTGGTC	0.279																																																0								A	stop/TYR	1,4405	2.1+/-5.4	0,1,2202	79.0	79.0	79.0		564	-1.5	0.1	12		79	0,8600		0,0,4300	no	stop-gained	DEPDC4	NM_152317.2		0,1,6502	CC,CA,AA		0.0,0.0227,0.0077		188/295	100656178	1,13005	2203	4300	6503	SO:0001587	stop_gained	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.564T>G	12.37:g.100656178A>C	ENSP00000396234:p.Tyr188*		Q496C8|Q96BW0	Nonsense_Mutation	SNP	ENST00000416321.1	37	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427816	0.83667	2.27E-4	0.0	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.	.	.	4.36	-1.55	0.08558	.	1.053100	0.07449	U	0.898746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.8994	0.01270	0.4953:0.1611:0.1877:0.156	.	.	.	.	X	188;121;188;188;121;181	.	ENSP00000367490:Y188X	Y	-	3	2	DEPDC4	99180309	0.076000	0.21285	0.116000	0.21606	0.899000	0.52679	0.319000	0.19522	-0.189000	0.10482	0.421000	0.28195	TAT		0.279	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		17	56	17	56
OR4Q3	441669	hgsc.bcm.edu;ucsc.edu	37	14	20215861	20215861	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:20215861G>T	ENST00000331723.1	+	1	275	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGGCAAGAGCATCTCTTTT	0.448																																																0													70.0	72.0	71.0					14																	20215861		2203	4300	6503	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.275G>T	14.37:g.20215861G>T	ENSP00000330049:p.Ser92Ile		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	3.191	-0.165903	0.06461	.	.	ENSG00000182652	ENST00000331723	T	0.00603	6.28	4.32	-3.02	0.05446	GPCR, rhodopsin-like superfamily (1);	0.590062	0.13588	N	0.376815	T	0.00384	0.0012	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42103	-0.9471	10	0.59425	D	0.04	.	6.687	0.23150	0.0:0.2977:0.1341:0.5682	.	92	Q8NH05	OR4Q3_HUMAN	I	92	ENSP00000330049:S92I	ENSP00000330049:S92I	S	+	2	0	OR4Q3	19285701	0.000000	0.05858	0.464000	0.27143	0.498000	0.33706	-0.933000	0.03959	-0.535000	0.06307	-1.308000	0.01314	AGC		0.448	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			6	49	6	49
DRC7	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	57732851	57732851	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:57732851C>T	ENST00000360716.3	+	4	514	c.293C>T	c.(292-294)gCa>gTa	p.A98V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A98V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A98V|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		98					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCAGGTGGCAGACAACTTC	0.572																																																0													148.0	136.0	140.0					16																	57732851		2198	4300	6498	SO:0001583	missense	84229																														ENST00000360716.3:c.293C>T	16.37:g.57732851C>T	ENSP00000353942:p.Ala98Val		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344341	0.82022	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.81078	-1.45;-1.45;-1.45	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.785	T	0.82186	-0.0582	10	0.15952	T	0.53	-15.0382	18.8443	0.92198	0.0:1.0:0.0:0.0	.	98;98	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	98	ENSP00000377869:A98V;ENSP00000338938:A98V;ENSP00000353942:A98V	ENSP00000338938:A98V	A	+	2	0	CCDC135	56290352	1.000000	0.71417	0.991000	0.47740	0.563000	0.35712	4.461000	0.60115	2.682000	0.91365	0.643000	0.83706	GCA		0.572	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			78	157	78	157
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	14	56	14
KRTAP17-1	83902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39471743	39471743	+	Missense_Mutation	SNP	C	C	T	rs556363411		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:39471743C>T	ENST00000334202.3	-	1	204	c.160G>A	c.(160-162)Gga>Aga	p.G54R		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	54						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caagacgatccgcagcagctg	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		10824	0.001		0.0	False		,,,				2504	0.0															0													16.0	22.0	20.0					17																	39471743		2184	4272	6456	SO:0001583	missense	83902			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.160G>A	17.37:g.39471743C>T	ENSP00000333993:p.Gly54Arg			Missense_Mutation	SNP	ENST00000334202.3	37	CCDS11387.1	.	.	.	.	.	.	.	.	.	.	C	4.356	0.065479	0.08388	.	.	ENSG00000186860	ENST00000334202	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	T	0.48840	0.1522	N	0.19112	0.55	0.19775	N	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.38607	-0.9653	8	0.87932	D	0	-5.6053	12.0347	0.53418	0.0:1.0:0.0:0.0	.	54	Q9BYP8	KR171_HUMAN	R	54	.	ENSP00000333993:G54R	G	-	1	0	KRTAP17-1	36725269	0.648000	0.27313	0.112000	0.21494	0.067000	0.16453	2.544000	0.45761	2.195000	0.70347	0.462000	0.41574	GGA		0.697	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			11	9	11	9
TMEM234	56063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	32688225	32688225	+	5'Flank	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:32688225G>A	ENST00000344461.3	-	0	0				TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000309777.6_5'Flank|TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Silent_p.K30K			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CTGTGGCCAAGGACCCTGTGA	0.587																																																0													57.0	57.0	57.0					1																	32688225		2203	4300	6503	SO:0001631	upstream_gene_variant	8668			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688225G>A	Exception_encountered		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37																																																																																					0.587	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		43	81	43	81
ARHGAP29	9411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	94655635	94655635	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:94655635G>C	ENST00000260526.6	-	13	1468	c.1286C>G	c.(1285-1287)aCa>aGa	p.T429R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	429					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGGTTAACTGTTACCTATGG	0.423																																																0													77.0	70.0	72.0					1																	94655635		2203	4300	6503	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1286C>G	1.37:g.94655635G>C	ENSP00000260526:p.Thr429Arg		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994063	0.74703	.	.	ENSG00000137962	ENST00000260526	T	0.44482	0.92	6.02	5.02	0.67125	.	0.000000	0.37669	N	0.001998	T	0.56411	0.1983	M	0.76938	2.355	0.80722	D	1	D	0.67145	0.996	D	0.66351	0.943	T	0.60021	-0.7344	10	0.87932	D	0	-26.4743	13.7569	0.62942	0.0991:0.0:0.9009:0.0	.	429	Q52LW3	RHG29_HUMAN	R	429	ENSP00000260526:T429R	ENSP00000260526:T429R	T	-	2	0	ARHGAP29	94428223	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.875000	0.69660	2.850000	0.98022	0.650000	0.86243	ACA		0.423	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		6	30	6	30
TANK	10010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	162036208	162036208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:162036208C>T	ENST00000392749.2	+	2	274	c.35C>T	c.(34-36)gCg>gTg	p.A12V	TANK_ENST00000406287.1_Missense_Mutation_p.A70V|TANK_ENST00000402568.1_Missense_Mutation_p.A70V|TANK_ENST00000405852.1_Missense_Mutation_p.A12V|TANK_ENST00000259075.2_Missense_Mutation_p.A12V|TANK_ENST00000403609.1_Missense_Mutation_p.A12V|TANK_ENST00000457476.1_Missense_Mutation_p.A12V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	12					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCAATAAAGCGTATGAAGCC	0.393																																																0													124.0	115.0	118.0					2																	162036208		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.35C>T	2.37:g.162036208C>T	ENSP00000376505:p.Ala12Val		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943012	0.92526	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.66638	0.31;0.31;2.19;-0.22;2.19	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	L	0.36672	1.1	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.77795	-0.2454	10	0.87932	D	0	-13.1191	20.1547	0.98103	0.0:1.0:0.0:0.0	.	12;12	Q92844;Q7Z4J6	TANK_HUMAN;.	V	12;12;12;12;12;12;70;70;12;38;12	ENSP00000259075:A12V;ENSP00000376505:A12V;ENSP00000384492:A70V;ENSP00000385487:A12V;ENSP00000392776:A38V	ENSP00000259075:A12V	A	+	2	0	TANK	161744454	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.913000	0.69957	2.868000	0.98415	0.555000	0.69702	GCG		0.393	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		34	39	34	39
PRMT9	90826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	148575687	148575687	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:148575687A>G	ENST00000322396.6	-	9	1603	c.1361T>C	c.(1360-1362)aTg>aCg	p.M454T	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.M341T	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		454	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACTTCCATCATCACATGGTC	0.358																																																0													65.0	68.0	67.0					4																	148575687		2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.1361T>C	4.37:g.148575687A>G	ENSP00000314396:p.Met454Thr		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	6.838	0.523827	0.13066	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.40476	1.03;1.03	5.89	0.678	0.17969	.	0.679777	0.16657	N	0.204953	T	0.13543	0.0328	N	0.01705	-0.755	0.21386	N	0.999703	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.02654	T	1	-5.1032	10.112	0.42568	0.5933:0.0:0.4067:0.0	.	454	Q6P2P2	ANM10_HUMAN	T	454;341	ENSP00000314396:M454T;ENSP00000439508:M341T	ENSP00000314396:M454T	M	-	2	0	PRMT10	148795137	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	3.387000	0.52501	0.137000	0.18759	0.459000	0.35465	ATG		0.358	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			21	49	21	49
MAML1	9794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	179201423	179201423	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:179201423T>C	ENST00000292599.3	+	5	2859	c.2596T>C	c.(2596-2598)Ttc>Ctc	p.F866L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTCCAGTTTCCACATGCA	0.607																																																0													42.0	44.0	43.0					5																	179201423		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2596T>C	5.37:g.179201423T>C	ENSP00000292599:p.Phe866Leu			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264359	0.80358	.	.	ENSG00000161021	ENST00000292599	T	0.30182	1.54	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	L	0.59436	1.845	0.80722	D	1	D	0.53745	0.962	P	0.49922	0.626	T	0.21999	-1.0229	10	0.39692	T	0.17	-20.1181	14.8284	0.70130	0.0:0.0:0.0:1.0	.	866	Q92585	MAML1_HUMAN	L	866	ENSP00000292599:F866L	ENSP00000292599:F866L	F	+	1	0	MAML1	179134029	1.000000	0.71417	0.908000	0.35775	0.958000	0.62258	6.830000	0.75319	1.913000	0.55393	0.459000	0.35465	TTC		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		30	55	30	55
HLA-F	3134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	29694761	29694761	+	IGR	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr6:29694761A>G	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Missense_Mutation_p.S380G|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Missense_Mutation_p.S251G			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGGAGTCACAGTGTCTTGGG	0.512																																																0													143.0	168.0	159.0					6																	29694761		1422	2645	4067	SO:0001628	intergenic_variant	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694761A>G			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	6.615	0.481792	0.12581	.	.	ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587	T;T	0.00808	5.67;5.72	0.62	-1.24	0.09435	.	20.562100	0.00166	U	0.000018	T	0.00241	0.0007	N	0.08118	0	0.20873	N	0.999831	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50242	-0.8851	10	0.87932	D	0	.	6.1248	0.20174	0.7862:0.0:0.2138:0.0	.	380;380	A8MVU7;P30511-3	.;.	G	357;380;294;251	ENSP00000259951:S380G;ENSP00000404130:S251G	ENSP00000259951:S380G	S	+	1	0	HLA-F	29802740	0.987000	0.35691	0.000000	0.03702	0.000000	0.00434	3.424000	0.52764	-1.365000	0.02158	-1.443000	0.01068	AGT		0.512	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		71	99	71	99
CCIN	881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	36170045	36170045	+	Silent	SNP	C	C	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:36170045C>A	ENST00000335119.2	+	1	657	c.546C>A	c.(544-546)cgC>cgA	p.R182R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTTTGGCCGCCTGCTCCGTG	0.542																																																0													56.0	55.0	55.0					9																	36170045		2203	4300	6503	SO:0001819	synonymous_variant	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.546C>A	9.37:g.36170045C>A			Q9BXG7	Silent	SNP	ENST00000335119.2	37	CCDS6599.1																																																																																				0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		23	45	23	45
VSIG4	11326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	65253352	65253352	+	Missense_Mutation	SNP	C	C	T	rs141882052	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:65253352C>T	ENST00000374737.4	-	2	484	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	VSIG4_ENST00000455586.2_Missense_Mutation_p.V126M|VSIG4_ENST00000412866.2_Missense_Mutation_p.V126M	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	126	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATCTCTCACGACTTGGTTG	0.483																																																0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3834		0,1,0,1631,571	137.0	121.0	126.0		376,376,376,376	-1.4	0.0	X	dbSNP_134	126	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	VSIG4	NM_001100431.1,NM_001184830.1,NM_001184831.1,NM_007268.2	21,21,21,21	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging	126/306,126/322,126/228,126/400	65253352	2,10561	2203	4300	6503	SO:0001583	missense	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.376G>A	X.37:g.65253352C>T	ENSP00000363869:p.Val126Met		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.601|9.601	1.128727|1.128727	0.21041|0.21041	2.61E-4|2.61E-4	1.49E-4|1.49E-4	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.04603	.|3.59;3.59;3.59	4.76|4.76	-1.38|-1.38	0.09027|0.09027	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.132160	.|0.06591	.|N	.|0.751996	T|T	0.15522|0.15522	0.0374|0.0374	M|M	0.65498|0.65498	2.005|2.005	0.09310|0.09310	N|N	1|1	.|P;D;D;B;D	.|0.89917	.|0.467;0.999;1.0;0.412;0.999	.|B;P;D;B;D	.|0.65443	.|0.034;0.838;0.935;0.02;0.931	T|T	0.28681|0.28681	-1.0036|-1.0036	5|10	.|0.41790	.|T	.|0.15	-0.1047|-0.1047	8.807|8.807	0.34943|0.34943	0.0:0.3735:0.0:0.6265|0.0:0.3735:0.0:0.6265	.|.	.|126;126;116;126;126	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	H|M	52|126	.|ENSP00000363869:V126M;ENSP00000411581:V126M;ENSP00000394143:V126M	.|ENSP00000363869:V126M	R|V	-|-	2|1	0|0	VSIG4|VSIG4	65170077|65170077	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.020000|0.020000	0.10135|0.10135	-0.189000|-0.189000	0.09629|0.09629	-0.253000|-0.253000	0.09514|0.09514	0.513000|0.513000	0.50165|0.50165	CGT|GTG		0.483	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		89	144	89	144
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	154194745	154194745	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:154194745C>T	ENST00000360256.4	-	8	1427	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	409	F5/8 type A 2.|Plastocyanin-like 3.		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671). {ECO:0000269|PubMed:11410838}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCAGTCCTCCTCTTCAGCAG	0.453																																																0													138.0	106.0	117.0					X																	154194745		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1227G>A	X.37:g.154194745C>T			Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			22	45	22	45
CHMP1A	5119	broad.mit.edu;ucsc.edu	37	16	89713000	89713000	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:89713000C>T	ENST00000397901.3	-	6	760	c.504G>A	c.(502-504)ctG>ctA	p.L168L	CHMP1A_ENST00000253475.5_Missense_Mutation_p.A162T|CHMP1A_ENST00000550102.1_Silent_p.L159L|CHMP1A_ENST00000535997.2_Silent_p.L104L|CHMP1A_ENST00000547614.1_5'Flank	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	168					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCCTCGGGCAGCTGGCTGA	0.677																																																0													21.0	25.0	24.0					16																	89713000		2143	4242	6385	SO:0001819	synonymous_variant	5119			U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.504G>A	16.37:g.89713000C>T			A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692706	0.48202	.	.	ENSG00000131165	ENST00000253475	.	.	.	5.79	3.69	0.42338	.	0.000000	0.36409	N	0.002614	T	0.52125	0.1715	.	.	.	0.26378	N	0.97678	P;D	0.60575	0.879;0.988	B;P	0.54060	0.368;0.741	T	0.50759	-0.8790	8	0.87932	D	0	-3.587	12.9967	0.58650	0.2504:0.6541:0.0955:0.0	.	162;254	A6NG32;D3DX81	.;.	T	162	.	ENSP00000253475:A162T	A	-	1	0	CHMP1A	88240501	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.571000	0.23669	1.424000	0.47217	0.655000	0.94253	GCC		0.677	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		7	11	7	11
IDH1	3417	broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	49	33	49
KIAA1161	57462	broad.mit.edu;ucsc.edu	37	9	34371509	34371509	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:34371509C>T	ENST00000297625.7	-	2	1556	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	478					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCAGCGGCCGGTAGGTGCT	0.677																																																0													11.0	15.0	14.0					9																	34371509		2066	4186	6252	SO:0001583	missense	57462			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1331G>A	9.37:g.34371509C>T	ENSP00000297625:p.Arg444Gln		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37		.	.	.	.	.	.	.	.	.	.	C	6.698	0.497409	0.12762	.	.	ENSG00000164976	ENST00000297625	D	0.91124	-2.79	5.14	2.27	0.28462	Glycoside hydrolase, superfamily (1);	0.335196	0.30159	N	0.010276	D	0.83004	0.5160	L	0.41356	1.27	0.19300	N	0.999977	B	0.18863	0.031	B	0.12837	0.008	T	0.63409	-0.6644	10	0.11182	T	0.66	-15.0887	9.7296	0.40352	0.0:0.7745:0.0:0.2255	.	478	Q6NSJ0	K1161_HUMAN	Q	444	ENSP00000297625:R444Q	ENSP00000297625:R444Q	R	-	2	0	KIAA1161	34361509	0.139000	0.22563	0.955000	0.39395	0.988000	0.76386	0.637000	0.24659	0.190000	0.20209	0.313000	0.20887	CGG		0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		10	23	10	23
ZNF525	170958	broad.mit.edu;ucsc.edu	37	19	53884333	53884333	+	5'Flank	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr19:53884333T>C	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Silent_p.S167S|ZNF525_ENST00000467003.1_Silent_p.S131S|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TGGAGAAGTCTATCAACGATG	0.363																																																0																																										SO:0001631	upstream_gene_variant	170958			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884333T>C	Exception_encountered		Q8TF23	Silent	SNP	ENST00000355326.3	37																																																																																					0.363	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		58	81	58	81
TRIM55	84675	broad.mit.edu;ucsc.edu	37	8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:67086746C>T	ENST00000315962.4	+	10	1938	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	522					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478																																																0													115.0	113.0	114.0					8																	67086746		2203	4300	6503	SO:0001583	missense	84675			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1565C>T	8.37:g.67086746C>T	ENSP00000323913:p.Ala522Val		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310302	0.60414	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000350034	T;T;T	0.53423	1.25;1.4;0.62	5.74	5.74	0.90152	.	0.000000	0.48286	D	0.000193	T	0.46092	0.1375	N	0.24115	0.695	0.25266	N	0.989552	B;D;D	0.56521	0.357;0.961;0.976	B;P;P	0.52066	0.246;0.689;0.629	T	0.45556	-0.9253	10	0.72032	D	0.01	.	14.2222	0.65836	0.1488:0.8512:0.0:0.0	.	215;426;522	Q9BYV6-4;Q9BYV6-2;Q9BYV6	.;.;TRI55_HUMAN	V	522;426;215	ENSP00000323913:A522V;ENSP00000297348:A426V;ENSP00000332302:A215V	ENSP00000323913:A522V	A	+	2	0	TRIM55	67249300	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	1.689000	0.37700	2.873000	0.98535	0.563000	0.77884	GCT		0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		40	97	40	97
RAB3GAP2	25782	broad.mit.edu;hgsc.bcm.edu	37	1	220344243	220344245	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:220344243_220344245delCTT	ENST00000358951.2	-	24	2911_2913	c.2795_2797delAAG	c.(2794-2799)gaagga>gga	p.E932del		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	932					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTCCTCCTTCTAATAACTT	0.389																																																0																																										SO:0001651	inframe_deletion	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2795_2797delAAG	1.37:g.220344243_220344245delCTT	ENSP00000351832:p.Glu932del		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	In_Frame_Del	DEL	ENST00000358951.2	37	CCDS31028.1																																																																																				0.389	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	41	20	41
SRPRB	58477	broad.mit.edu;hgsc.bcm.edu	37	3	133525498	133525500	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:133525498_133525500delTTC	ENST00000466490.2	+	3	485_487	c.200_202delTTC	c.(199-204)gttctt>gtt	p.L69del		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	69					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CAGAGAGCTGTTCTTCTTGTTGG	0.399																																																0																																										SO:0001651	inframe_deletion	58477			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.200_202delTTC	3.37:g.133525501_133525503delTTC	ENSP00000418401:p.Leu69del		Q6P595|Q8N2D8	In_Frame_Del	DEL	ENST00000466490.2	37	CCDS3081.1																																																																																				0.399	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			20	52	20	52
CAND1	55832	broad.mit.edu;hgsc.bcm.edu	37	12	67704094	67704094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:67704094delA	ENST00000545606.1	+	13	3795	c.3358delA	c.(3358-3360)aagfs	p.K1120fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1120					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTATGATATTAAGGTAAGATG	0.328																																																0													111.0	107.0	108.0					12																	67704094		2203	4299	6502	SO:0001589	frameshift_variant	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3358delA	12.37:g.67704094delA	ENSP00000442318:p.Lys1120fs		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	CCDS8977.1																																																																																				0.328	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		21	26	21	26
