#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
ZNF280C	55609	broad.mit.edu	37	X	129354452	129354452	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chrX:129354452T>A	ENST00000370978.4	-	13	1551	c.1398A>T	c.(1396-1398)aaA>aaT	p.K466N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACTCCTTTTTTCTGTTTAC	0.343																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1396-1398)aaA>aaT		zinc finger protein 280C							84.0	78.0	80.0					X																	129354452		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354452T>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1398A>T	X.37:g.129354452T>A	ENSP00000360017:p.Lys466Asn						p.K466N	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			13	1551	-			466					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1398A>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868347	0.17250	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.15256	4.18;2.44	3.92	1.27	0.21489	.	.	.	.	.	T	0.13072	0.0317	L	0.60455	1.87	0.31744	N	0.635402	P;B	0.39964	0.697;0.112	B;B	0.34722	0.188;0.188	T	0.18116	-1.0347	9	0.36615	T	0.2	.	3.3302	0.07082	0.0:0.2595:0.2054:0.5351	.	417;466	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	417;466;417	ENSP00000360017:K466N;ENSP00000408521:K417N	ENSP00000066465:K417N	K	-	3	2	ZNF280C	129182133	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	2.824000	0.48088	0.051000	0.15978	0.350000	0.21858	AAA		0.343	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		25	39	0	0	0	0.041601	0	25	39				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	103	0	0	0	0.009096	0	4	103				
PCDHGC4	56098	broad.mit.edu	37	5	140866043	140866043	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:140866043C>T	ENST00000306593.1	+	1	1303	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCTCCTCTCAGTACCCA	0.468																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1303-1305)Ctc>Ttc									75.0	70.0	72.0					5																	140866043		2203	4300	6503	SO:0001583	missense	0							g.chr5:140866043C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1303C>T	5.37:g.140866043C>T	ENSP00000306918:p.Leu435Phe					PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron	p.L435F	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1303	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1303C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372782	0.24857	.	.	ENSG00000242419	ENST00000306593	T	0.55760	0.5	5.41	2.7	0.31948	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.73644	0.3613	M	0.88512	2.96	0.32871	D	0.509276	D;D	0.89917	1.0;0.999	D;D	0.81914	0.992;0.995	T	0.79001	-0.1981	9	0.72032	D	0.01	.	10.0561	0.42246	0.0:0.7809:0.0:0.2191	.	435;435	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	F	435	ENSP00000306918:L435F	ENSP00000306918:L435F	L	+	1	0	PCDHGC4	140846227	0.409000	0.25368	0.997000	0.53966	0.276000	0.26787	1.355000	0.34068	0.277000	0.22141	-0.444000	0.05651	CTC		0.468	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		26	46	0	0	0	0.054565	0	26	46				
PIK3CG	5294	broad.mit.edu	37	7	106513029	106513029	+	Silent	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:106513029G>A	ENST00000359195.3	+	3	2353	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	681	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAGATTTCTGCTGAAGCGTG	0.378																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2041-2043)ctG>ctA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							195.0	188.0	190.0					7																	106513029		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513029G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2043G>A	7.37:g.106513029G>A						PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L	p.L681L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			3	2353	+			681					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2043G>A	CCDS5739.1																																																																																				0.378	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	151	0	0	0	0.020292	0	10	151				
BMP5	653	broad.mit.edu	37	6	55739439	55739439	+	Silent	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:55739439G>A	ENST00000370830.3	-	1	923	c.225C>T	c.(223-225)tcC>tcT	p.S75S	BMP5_ENST00000446683.2_Silent_p.S75S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	75					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGTGCAGAGGACGCTTGTT	0.468																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(223-225)tcC>tcT		bone morphogenetic protein 5							188.0	171.0	176.0					6																	55739439		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739439G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.225C>T	6.37:g.55739439G>A						BMP5_ENST00000446683.2_Silent_p.S75S	p.S75S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	923	-	Lung NSC(77;0.0462)		75					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.225C>T	CCDS4958.1																																																																																				0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			4	123	0	0	0	0.021553	0	4	123				
CD44	960	broad.mit.edu	37	11	35201882	35201882	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr11:35201882G>A	ENST00000428726.2	+	3	418	c.295G>A	c.(295-297)Gca>Aca	p.A99T	CD44_ENST00000263398.6_Missense_Mutation_p.A99T|CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.A99T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	99	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CATCTGTGCAGCAAACAACAC	0.493																																						ENST00000263398.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(295-297)Gca>Aca		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						198.0	156.0	170.0					11																	35201882		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35201882G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.295G>A	11.37:g.35201882G>A	ENSP00000398632:p.Ala99Thr					CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000428726.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000433354.2_Missense_Mutation_p.A99T	p.A99T	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		3	729	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	99			Link.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.295G>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.550884|3.550884	0.65311|0.65311	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526000;ENST00000279452|ENST00000442151;ENST00000528455	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08984|.	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03|.	5.86|5.86	5.86|5.86	0.93980|0.93980	C-type lectin fold (1);Link (3);C-type lectin-like (1);|.	0.122646|.	0.56097|.	D|.	0.000029|.	T|T	0.63733|0.63733	0.2536|0.2536	L|L	0.48877|0.48877	1.53|1.53	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D;P;P;P|.	0.89917|.	0.998;0.999;1.0;0.923;0.846;0.57|.	D;D;D;P;P;P|.	0.91635|.	0.986;0.996;0.999;0.883;0.644;0.65|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.72032|.	D|.	0.01|.	-13.7883|-13.7883	16.0536|16.0536	0.80779|0.80779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99;99;99;99;99;99|.	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|.	.;.;.;.;.;CD44_HUMAN|.	T|N	99;99;99;99;99;99;99;99;99;99;78;77;59|98;35	ENSP00000263398:A99T;ENSP00000389830:A99T;ENSP00000414567:A99T;ENSP00000391008:A99T;ENSP00000403990:A99T;ENSP00000353280:A99T;ENSP00000398632:A99T;ENSP00000392331:A99T;ENSP00000404447:A99T;ENSP00000309732:A99T;ENSP00000432405:A78T;ENSP00000434465:A77T;ENSP00000279452:A59T|.	ENSP00000263398:A99T|.	A|S	+|+	1|2	0|0	CD44|CD44	35158458|35158458	0.993000|0.993000	0.37304|0.37304	0.619000|0.619000	0.29118|0.29118	0.058000|0.058000	0.15608|0.15608	4.125000|4.125000	0.57931|0.57931	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.493	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		3	73	0	0	0	0.009096	0	3	73				
TCL1B	9623	broad.mit.edu	37	14	96157184	96157184	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr14:96157184C>G	ENST00000340722.7	+	2	325	c.274C>G	c.(274-276)Ccc>Gcc	p.P92A	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	92										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(274-276)Ccc>Gcc		T-cell leukemia/lymphoma 1B							67.0	70.0	69.0					14																	96157184		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157184C>G	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.274C>G	14.37:g.96157184C>G	ENSP00000343223:p.Pro92Ala					RP11-1070N10.6_ENST00000461160.1_RNA	p.P92A	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	325	+		all_cancers(154;0.103)	92					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.274C>G	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715416	0.30413	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.41400	1.0	3.29	-4.9	0.03094	.	.	.	.	.	T	0.38931	0.1059	M	0.77313	2.365	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.26744	-1.0094	9	0.54805	T	0.06	-3.6128	2.0452	0.03559	0.1457:0.1952:0.1438:0.5153	.	92	O95988	TCL1B_HUMAN	A	92	ENSP00000343223:P92A	ENSP00000343223:P92A	P	+	1	0	TCL1B	95226937	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.931000	0.03967	-1.348000	0.02205	-0.379000	0.06801	CCC		0.607	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			3	100	0	0	0	0.004672	0	3	100				
FILIP1L	11259	broad.mit.edu	37	3	99567862	99567862	+	Silent	SNP	A	A	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr3:99567862A>G	ENST00000354552.3	-	5	3128	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F	FILIP1L_ENST00000383694.2_Silent_p.F646F|FILIP1L_ENST00000471562.1_Silent_p.F646F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Silent_p.F886F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Silent_p.F462F	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	886						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGGTTGCACAAAGTTGGCAT	0.448																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2656-2658)ttT>ttC		filamin A interacting protein 1-like							186.0	178.0	181.0					3																	99567862		1986	4160	6146	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567862A>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2658T>C	3.37:g.99567862A>G						FILIP1L_ENST00000487087.1_Silent_p.F462F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.F886F|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.F646F|FILIP1L_ENST00000471562.1_Silent_p.F646F|FILIP1L_ENST00000476723.1_Intron	p.F886F	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	3128	-			886					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.2658T>C	CCDS43117.1																																																																																				0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		9	211	0	0	0	0.105934	0	9	211				
CHST5	23563	broad.mit.edu	37	16	75563706	75563706	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr16:75563706C>T	ENST00000336257.3	-	3	1971	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V199M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	193					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAGCACCACGTGGCTGTAG	0.657																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(577-579)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							91.0	98.0	95.0					16																	75563706		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563706C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.577G>A	16.37:g.75563706C>T	ENSP00000338783:p.Val193Met					CHST5_ENST00000541075.1_Missense_Mutation_p.V199M|RP11-77K12.7_ENST00000460606.1_3'UTR	p.V193M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1971	-			193					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.577G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438007	0.43326	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.23552	1.9;1.9	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.066398	0.64402	D	0.000012	T	0.40498	0.1119	L	0.60012	1.86	0.41256	D	0.986744	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.19614	-1.0300	10	0.46703	T	0.11	.	6.9039	0.24299	0.0:0.8611:0.0:0.1389	.	199;193	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	193;199	ENSP00000338783:V193M;ENSP00000441220:V199M	ENSP00000338783:V193M	V	-	1	0	CHST5	74121207	1.000000	0.71417	0.999000	0.59377	0.519000	0.34347	2.231000	0.43009	1.514000	0.48869	0.313000	0.20887	GTG		0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		63	117	0	0	0	0.048971	0	63	117				
ATP6V0E1	8992	broad.mit.edu	37	5	172410879	172410879	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:172410879C>G	ENST00000519374.1	+	1	120	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V	ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	6					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTATCACGGCCTCACTGTGCC	0.612																																						ENST00000519374.1																			0				lung(2)	2						c.(16-18)Ctc>Gtc		ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1							237.0	211.0	219.0					5																	172410879		2203	4300	6503	SO:0001583	missense	8992				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism	g.chr5:172410879C>G	Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"""ATPases / V-type"""	863	protein-coding gene	gene with protein product		603931	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD"", ""ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"""	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.16C>G	5.37:g.172410879C>G	ENSP00000429690:p.Leu6Val					ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V	p.L6V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	120	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	6					B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	ENST00000519374.1	37	c.16C>G	CCDS4383.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463228	0.63513	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000265093;ENST00000517669	.	.	.	5.34	3.48	0.39840	.	0.116521	0.64402	D	0.000011	T	0.34077	0.0885	.	.	.	0.39599	D	0.969709	P	0.36647	0.563	B	0.32022	0.139	T	0.17623	-1.0363	8	0.33141	T	0.24	-7.8537	6.4141	0.21708	0.1481:0.7006:0.0:0.1513	.	6	O15342	VA0E1_HUMAN	V	6	.	ENSP00000265093:L6V	L	+	1	0	ATP6V0E1	172343485	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.284000	0.33249	1.478000	0.48253	0.655000	0.94253	CTC		0.612	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2	NM_003945		7	256	0	0	0	0.069234	0	7	256				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	64	0	0	0	0.004672	0	3	64				
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642																																						ENST00000366903.6																			1	Deletion - In frame(1)	p.G431delG(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1282-1284)Ggc>Agc		H2.0-like homeobox							25.0	24.0	25.0					1																	221057861		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057861G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1282G>A	1.37:g.221057861G>A	ENSP00000355870:p.Gly428Ser					HLX_ENST00000549319.1_Missense_Mutation_p.G214S	p.G428S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2783	+			428			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1282G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198731	0.38806	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91996	-2.65;-2.95	2.86	-0.687	0.11320	.	0.951617	0.08586	N	0.923819	T	0.78483	0.4290	N	0.14661	0.345	0.23320	N	0.997912	B	0.10296	0.003	B	0.06405	0.002	T	0.65689	-0.6107	10	0.02654	T	1	.	3.3157	0.07032	0.4133:0.2112:0.3755:0.0	.	428	Q14774	HLX_HUMAN	S	428;214	ENSP00000355870:G428S;ENSP00000449882:G214S	ENSP00000355870:G428S	G	+	1	0	HLX	219124484	0.977000	0.34250	0.038000	0.18304	0.016000	0.09150	1.135000	0.31454	0.081000	0.16988	-0.291000	0.09656	GGC		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		3	19	0	0	0	0.004672	0	3	19				
CDC5L	988	broad.mit.edu	37	6	44387276	44387276	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:44387276G>A	ENST00000371477.3	+	9	1482	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	395	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCTCAGGTGTAACTCCACA	0.423																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1183-1185)Gta>Ata		cell division cycle 5-like							164.0	144.0	151.0					6																	44387276		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387276G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1183G>A	6.37:g.44387276G>A	ENSP00000360532:p.Val395Ile						p.V395I	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1482	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		395			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1183G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427395	0.62733	.	.	ENSG00000096401	ENST00000371477	T	0.48522	0.81	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.06023	-1.0850	10	0.23302	T	0.38	-14.375	13.7886	0.63126	0.0734:0.0:0.9266:0.0	.	395	Q99459	CDC5L_HUMAN	I	395	ENSP00000360532:V395I	ENSP00000360532:V395I	V	+	1	0	CDC5L	44495254	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.667000	0.74451	2.609000	0.88269	0.563000	0.77884	GTA		0.423	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	98	0	0	0	0.014758	0	4	98				
ENPEP	2028	broad.mit.edu	37	4	111434635	111434635	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr4:111434635A>T	ENST00000265162.5	+	7	1715	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	458					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ATGTCTTCGCATCCAATTATT	0.353																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1372-1374)cAt>cTt		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						187.0	172.0	177.0					4																	111434635		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434635A>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1373A>T	4.37:g.111434635A>T	ENSP00000265162:p.His458Leu					RP11-380D23.1_ENST00000503998.1_RNA	p.H458L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	7	1715	+		Hepatocellular(203;0.217)	458					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1373A>T	CCDS3691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.940413|3.940413	0.73557|0.73557	.|.	.|.	ENSG00000250511|ENSG00000138792	ENST00000503998|ENST00000265162	.|T	.|0.03152	.|4.03	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26774|0.26774	0.0655|0.0655	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.26503|0.26503	-1.0101|-1.0101	5|10	.|0.87932	.|D	.|0	.|.	15.5235|15.5235	0.75885|0.75885	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|458	.|Q07075	.|AMPE_HUMAN	S|L	111|458	.|ENSP00000265162:H458L	.|ENSP00000265162:H458L	C|H	-|+	1|2	0|0	RP11-380D23.1|ENPEP	111654084|111654084	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.405000|0.405000	0.30901|0.30901	8.910000|8.910000	0.92685|0.92685	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	TGC|CAT		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			63	75	0	0	0	0.048971	0	63	75				
SDC4	6385	broad.mit.edu	37	20	43959044	43959044	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr20:43959044T>C	ENST00000372733.3	-	4	446	c.407A>G	c.(406-408)cAg>cGg	p.Q136R	SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	136					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GTTGCTGCCCTGCACAGTGCT	0.527			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(406-408)cAg>cGg		syndecan 4							156.0	125.0	135.0					20																	43959044		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959044T>C	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.407A>G	20.37:g.43959044T>C	ENSP00000361818:p.Gln136Arg					SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R	p.Q136R	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	446	-		Myeloproliferative disorder(115;0.0122)	136					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.407A>G	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	T	7.454	0.643344	0.14451	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.28666	1.6	5.93	5.93	0.95920	.	0.430351	0.26428	N	0.024433	T	0.25827	0.0629	L	0.45228	1.405	0.38248	D	0.941515	B	0.13145	0.007	B	0.12156	0.007	T	0.13308	-1.0514	10	0.10111	T	0.7	-29.7391	14.128	0.65235	0.0:0.0:0.0:1.0	.	136	P31431	SDC4_HUMAN	R	136;64	ENSP00000361818:Q136R	ENSP00000361818:Q136R	Q	-	2	0	SDC4	43392458	0.226000	0.23696	0.521000	0.27850	0.077000	0.17291	1.038000	0.30254	2.265000	0.75225	0.533000	0.62120	CAG		0.527	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		41	66	0	0	0	0.048971	0	41	66				
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378																																						ENST00000557922.1																			0																																																			0							g.chr15:23108883T>C																													15.37:g.23108883T>C								NR_040057.1						0	246	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.378	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			3	41	0	0	0	0.004672	0	3	41				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	49	0	0	0	0.050027	0	29	49				
MAST2	23139	broad.mit.edu	37	1	46498015	46498015	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:46498015T>C	ENST00000361297.2	+	25	3636	c.3353T>C	c.(3352-3354)cTg>cCg	p.L1118P	MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTTCACCCTGCGGGCCATT	0.577																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3352-3354)cTg>cCg		microtubule associated serine/threonine kinase 2							65.0	72.0	69.0					1																	46498015		2187	4298	6485	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46498015T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3353T>C	1.37:g.46498015T>C	ENSP00000354671:p.Leu1118Pro					MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P|MAST2_ENST00000372008.1_Intron	p.L1118P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			25	3636	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1118			PDZ.			Missense_Mutation	SNP	ENST00000361297.2	37	c.3353T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315153	0.81358	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.54279	0.58;0.58	4.83	4.83	0.62350	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000001	T	0.71888	0.3393	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.979	T	0.76233	-0.3034	10	0.87932	D	0	-10.1661	14.8573	0.70347	0.0:0.0:0.0:1.0	.	1025;1118	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	P	1118;1025	ENSP00000354671:L1118P;ENSP00000361079:L1025P	ENSP00000354671:L1118P	L	+	2	0	MAST2	46270602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.825000	0.86693	2.153000	0.67306	0.459000	0.35465	CTG		0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	87	0	0	0	0.021553	0	4	87				
BARHL2	343472	broad.mit.edu	37	1	91182584	91182584	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:91182584T>C	ENST00000370445.4	-	1	210	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	57					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTCCCTACGGTATCAATCTCC	0.607																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(169-171)Acc>Gcc		BarH-like homeobox 2							73.0	80.0	78.0					1																	91182584		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182584T>C	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.169A>G	1.37:g.91182584T>C	ENSP00000359474:p.Thr57Ala						p.T57A	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	210	-		all_lung(203;0.0263)|Lung SC(238;0.128)	57					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.169A>G	CCDS730.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665443	0.88251	.	.	ENSG00000143032	ENST00000370445	D	0.91011	-2.77	5.92	4.78	0.61160	.	0.046970	0.85682	D	0.000000	D	0.88062	0.6336	L	0.27053	0.805	0.51482	D	0.999927	D	0.58970	0.984	D	0.65443	0.935	D	0.89602	0.3835	10	0.59425	D	0.04	.	11.6037	0.51020	0.0:0.0:0.1492:0.8508	.	57	Q9NY43	BARH2_HUMAN	A	57	ENSP00000359474:T57A	ENSP00000359474:T57A	T	-	1	0	BARHL2	90955172	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	6.970000	0.76099	1.046000	0.40249	0.528000	0.53228	ACC		0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			3	106	0	0	0	0.009096	0	3	106				
DYRK4	8798	broad.mit.edu	37	12	4705796	4705796	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr12:4705796C>G	ENST00000540757.2	+	6	621	c.461C>G	c.(460-462)gCt>gGt	p.A154G	DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATCCTGGAAGCTCTCAGAAAG	0.498																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(460-462)gCt>gGt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							109.0	96.0	100.0					12																	4705796		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705796C>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.461C>G	12.37:g.4705796C>G	ENSP00000441755:p.Ala154Gly					DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G|DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G	p.A154G	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		6	621	+			154			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.461C>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495018	0.44352	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128805	0.52532	D	0.000076	T	0.65780	0.2724	L	0.37507	1.11	0.80722	D	1	D;P;B	0.55605	0.972;0.573;0.302	P;B;B	0.56398	0.797;0.133;0.21	T	0.66689	-0.5860	10	0.52906	T	0.07	.	13.8644	0.63578	0.1528:0.8472:0.0:0.0	.	269;154;154	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	269;154;154;154	ENSP00000437534:A269G;ENSP00000441755:A154G;ENSP00000010132:A154G;ENSP00000439697:A154G	ENSP00000010132:A154G	A	+	2	0	DYRK4	4576057	0.990000	0.36364	1.000000	0.80357	0.949000	0.60115	2.243000	0.43115	2.570000	0.86706	0.655000	0.94253	GCT		0.498	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			5	13	0	0	0	0.014758	0	5	13				
FRMPD1	22844	broad.mit.edu	37	9	37745690	37745690	+	Missense_Mutation	SNP	G	G	A	rs200892375		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr9:37745690G>A	ENST00000539465.1	+	16	4254	c.3661G>A	c.(3661-3663)Gtc>Atc	p.V1221I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCACCAGCCGTCCCTCCAGA	0.527																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3661-3663)Gtc>Atc		FERM and PDZ domain containing 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	79.0	85.0	83.0		3661	-2.5	0.0	9		83	0,8600		0,0,4300	yes	missense	FRMPD1	NM_014907.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1221/1579	37745690	1,13005	2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745690G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3661G>A	9.37:g.37745690G>A	ENSP00000444411:p.Val1221Ile					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I	p.V1221I			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4254	+			1221					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3661G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.116	-0.656603	0.03480	2.27E-4	0.0	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	4.67	-2.47	0.06442	.	1.432230	0.03852	N	0.272449	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.39663	-0.9603	10	0.22109	T	0.4	-0.6456	4.699	0.12818	0.0:0.2588:0.2995:0.4417	.	1221	Q5SYB0	FRPD1_HUMAN	I	1221	ENSP00000366995:V1221I;ENSP00000444411:V1221I	ENSP00000366995:V1221I	V	+	1	0	FRMPD1	37735690	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.656000	0.05342	-0.666000	0.05310	-1.376000	0.01182	GTC		0.527	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	124	0	0	0	0.029380	0	4	124				
AC010745.3	0	broad.mit.edu	37	2	16409482	16409483	+	lincRNA	INS	-	-	C	rs375255182|rs371568050|rs149678427|rs142105920	byFrequency	TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr2:16409482_16409483insC	ENST00000439745.1	-	0	0				AC010745.2_ENST00000420404.1_lincRNA																							TCCTTCCTGGGaccccgccccg	0.604																																						ENST00000420404.1																			0																																																			0							g.chr2:16409482_16409483insC																													2.37:g.16409482_16409483insC														0	289	+									RNA	INS	ENST00000439745.1	37																																																																																						0.604	AC010745.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323747.1			2	4						2	4	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A	rs202139466	byFrequency	TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2557-2559)aaafs	p.K853fs	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.K853fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.K828fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.K853fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	853					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2554-2559)gaaaaafs		structural maintenance of chromosomes 4																																				SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143939_160143940insA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2564dupA	3.37:g.160143947_160143947dupA	ENSP00000349961:p.Lys853fs					SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron	p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3007_3008	+			852					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Ins	INS	ENST00000357388.3	37	c.2556_2557insA	CCDS3189.1																																																																																				0.322	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	251						8	251	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:139422565_139422567delGCT	ENST00000361474.1	-	1	312_314	c.88_90delAGC	c.(88-90)agcdel	p.S30del	NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000541337.1_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(88-90)del		neuregulin 2			,,,,	46,59,2309		4,0,38,8,43,1114					,,,,	-1.7	0.1			4	25,109,4858		5,0,15,10,89,2377	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	9,0,53,18,132,3491	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6843,4.3496,3.2271	,,,,	,,,,		71,168,7167				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422565_139422567delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.88_90delAGC	5.37:g.139422574_139422576delGCT	ENSP00000354910:p.Ser30del					NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del	p.S30del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	317_319	-			30			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.88_90delAGC	CCDS4217.1																																																																																				0.675	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145639747	145639747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr8:145639747delA	ENST00000301305.3	-	6	1153	c.1048delT	c.(1048-1050)tgcfs	p.C350fs	SLC39A4_ENST00000276833.5_Frame_Shift_Del_p.C325fs|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	350					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGTGCAGGTCAGCAGC	0.657																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(973-975)gcfs		solute carrier family 39 (zinc transporter), member 4							37.0	32.0	34.0					8																	145639747		2190	4289	6479	SO:0001589	frameshift_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145639747delA	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1048delT	8.37:g.145639747delA	ENSP00000301305:p.Cys350fs					SLC39A4_ENST00000301305.3_Frame_Shift_Del_p.C350fs	p.C325fs	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		5	1276	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		350					Q7L5S5|Q9H6T8|Q9NXC4	Frame_Shift_Del	DEL	ENST00000301305.3	37	c.973delT	CCDS6424.1																																																																																				0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			2	4						2	4	---	---	---	---
VLDLR-AS1	401491	broad.mit.edu	37	9	2479904	2479906	+	RNA	DEL	GAG	GAG	-			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr9:2479904_2479906delGAG	ENST00000416826.2	-	0	1214																											ggaggaggacgaggaggaggagg	0.448																																						ENST00000416826.2																			0																																																			0							g.chr9:2479904_2479906delGAG																													9.37:g.2479913_2479915delGAG														0	1214	-									RNA	DEL	ENST00000416826.2	37																																																																																						0.448	RP11-125B21.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000051524.2			3	5						3	5	---	---	---	---
LOC101927419	101927419	broad.mit.edu	37	10	103022524	103022524	+	lincRNA	DEL	C	C	-			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr10:103022524delC	ENST00000422661.1	-	0	376				LBX1-AS1_ENST00000434878.1_RNA																							GACTCCCCTGCCCCCCCAGTC	0.483																																						ENST00000422661.1																			0																																																			0							g.chr10:103022524delC																													10.37:g.103022524delC						LBX1-AS1_ENST00000434878.1_RNA								0	376	-									RNA	DEL	ENST00000422661.1	37																																																																																						0.483	RP11-107I14.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000049934.1			2	4						2	4	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs199682553|rs112820043	byFrequency	TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr10:118396277delG	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													G|GG|G|insertion	318	0.0634984	0.0575	0.0562	5008	,	,		21368	0.0754		0.0477	False		,,,				2504	0.0808					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2				1549,2079		408,733,673	95.0	86.0	89.0			-3.9	0.0	10	dbSNP_134	88	3867,3989		1053,1761,1114	no	intron	PNLIPRP2	NM_005396.4		1461,2494,1787	A1A1,A1R,RR		49.2235,42.6957,47.1613			118396277	5416,6068	1879	4103	5982			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277delG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277delG						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	DEL	ENST00000298771.7	37																																																																																						0.423	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		4	4						4	4	---	---	---	---
RP11-897M7.1	0	broad.mit.edu	37	12	131962224	131962225	+	lincRNA	INS	-	-	ATA	rs201035180|rs201824434		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr12:131962224_131962225insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.396																																						ENST00000535133.1																			0																																																			0							g.chr12:131962224_131962225insATA																													12.37:g.131962224_131962225insATA														0	195	-									RNA	INS	ENST00000535133.1	37																																																																																						0.396	RP11-897M7.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399228.1			2	4						2	4	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45754043	45754044	+	RNA	INS	-	-	CAC	rs374679666|rs564412335		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr15:45754043_45754044insCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA																							atcaccaccatcaccaccacca	0.554																																						ENST00000560077.1																			0																																																			0							g.chr15:45754043_45754044insCAC																													15.37:g.45754050_45754052dupCAC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	INS	ENST00000560077.1	37																																																																																						0.554	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			5	5						5	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058732	11058733	+	RNA	DEL	TT	TT	-	rs140338160		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr21:11058732_11058733delTT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATATTACTATTTTTTACCCTG	0.257																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058732_11058733delTT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058736_11058737delTT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.257	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
