#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PCDHGB4	8641	broad.mit.edu	37	5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr5:140769318G>A	ENST00000519479.1	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGGCGAAGTGCGCAC	0.697																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1867-1869)Gaa>Aaa									32.0	38.0	36.0					5																	140769318		2135	4249	6384	SO:0001583	missense	0							g.chr5:140769318G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1867G>A	5.37:g.140769318G>A	ENSP00000428288:p.Glu623Lys		Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E623K	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1867	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1867G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953749	0.73902	.	.	ENSG00000253953	ENST00000519479	T	0.53206	0.63	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77246	0.4102	M	0.92459	3.31	0.31670	N	0.644471	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.83019	-0.0168	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	623;623	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	623	ENSP00000428288:E623K	ENSP00000428288:E623K	E	+	1	0	PCDHGB4	140749502	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	9.500000	0.97977	2.503000	0.84419	0.563000	0.77884	GAA		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		22	43	0	0	0	1	0	22	43				
ZBTB11	27107	broad.mit.edu	37	3	101378836	101378836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:101378836G>A	ENST00000312938.4	-	6	2417	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTGCTCGCAAAGAGGCA	0.378																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1837-1839)Cga>Tga		zinc finger and BTB domain containing 11							113.0	105.0	108.0					3																	101378836		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378836G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1837C>T	3.37:g.101378836G>A	ENSP00000326200:p.Arg613*		Somatic					p.R613*	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			6	2417	-			613					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1837C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	45	11.599487	0.99581	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.7	2.86	0.33363	.	0.072564	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2099	14.9393	0.70980	0.0:0.0:0.6079:0.3921	.	.	.	.	X	613	.	ENSP00000326200:R613X	R	-	1	2	ZBTB11	102861526	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	3.952000	0.56691	0.307000	0.22880	0.484000	0.47621	CGA		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		3	52	0	0	0	1	0	3	52				
LINC00957	255031	broad.mit.edu	37	7	44080541	44080541	+	lincRNA	SNP	G	G	A	rs3099751		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr7:44080541G>A	ENST00000441052.1	+	0	1226				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		CTGCCGCTGCGCCCCGCACCC	0.617																																						ENST00000441052.1																			0																																																			0							g.chr7:44080541G>A	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080541G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1226	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.617	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			6	19	0	0	0	1	0	6	19				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		14	21	0	0	0	1	0	14	21				
SHF	90525	broad.mit.edu	37	15	45464122	45464122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr15:45464122G>A	ENST00000560471.1	-	6	1240	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Silent_p.R358R|SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'Flank					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTCACTGTTGCGCACCAGGT	0.582																																						ENST00000560471.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(1237-1239)Caa>Taa		Src homology 2 domain containing F							86.0	66.0	73.0					15																	45464122		2198	4298	6496	SO:0001587	stop_gained	90525							g.chr15:45464122G>A	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560471.1:c.1237C>T	15.37:g.45464122G>A	ENSP00000453260:p.Gln413*		Somatic				SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron	p.Q413*			WXS	Illumina GAIIx	Phase_I	B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	6	1240	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	0						Nonsense_Mutation	SNP	ENST00000560471.1	37	c.1237C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.067341	0.76301	.	.	ENSG00000138606	ENST00000361989	.	.	.	4.94	1.49	0.22878	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72043	-0.4409	5	0.87932	D	0	-15.0264	11.1936	0.48700	0.0:0.0:0.3183:0.6817	.	.	.	.	V	348	.	ENSP00000355004:A348V	A	-	2	0	SHF	43251414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.853000	0.27777	0.430000	0.26230	0.655000	0.94253	GCA		0.582	SHF-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416345.1	NM_138356		14	14	0	0	0	1	0	14	14				
F5	2153	broad.mit.edu	37	1	169519912	169519912	+	Silent	SNP	A	A	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:169519912A>C	ENST00000367797.3	-	9	1563	c.1362T>G	c.(1360-1362)ccT>ccG	p.P454P	F5_ENST00000367796.3_Silent_p.P454P|F5_ENST00000546081.1_Silent_p.P317P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	454	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CATCTTCATAAGGCGAGAAGG	0.393																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1360-1362)ccT>ccG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						99.0	97.0	97.0					1																	169519912		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519912A>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1362T>G	1.37:g.169519912A>C			Somatic				F5_ENST00000546081.1_Silent_p.P317P|F5_ENST00000367797.3_Silent_p.P454P	p.P454P			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			9	1563	-	all_hematologic(923;0.208)		454			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1362T>G	CCDS1281.1																																																																																				0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		3	55	0	0	0	1	0	3	55				
LAMA2	3908	broad.mit.edu	37	6	129663539	129663539	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr6:129663539T>C	ENST00000421865.2	+	30	4412	c.4363T>C	c.(4363-4365)Tac>Cac	p.Y1455H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1455	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCTCTTGGATACTATGGAAT	0.373																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4363-4365)Tac>Cac		laminin, alpha 2							164.0	151.0	156.0					6																	129663539		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129663539T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4363T>C	6.37:g.129663539T>C	ENSP00000400365:p.Tyr1455His		Somatic					p.Y1455H	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	30	4412	+			1455			Laminin EGF-like 15.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4363T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489778	0.84962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.71817	-0.6	5.57	5.57	0.84162	EGF-like, laminin (4);	0.064450	0.64402	D	0.000007	T	0.78698	0.4324	M	0.71581	2.175	0.45464	D	0.998434	D;D	0.71674	0.998;0.993	D;D	0.68483	0.958;0.942	T	0.80681	-0.1274	10	0.54805	T	0.06	.	15.0157	0.71581	0.0:0.0:0.0:1.0	.	1455;1455	A6NF00;P24043	.;LAMA2_HUMAN	H	1455	ENSP00000400365:Y1455H	ENSP00000346769:Y1455H	Y	+	1	0	LAMA2	129705232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.248000	0.74166	0.533000	0.62120	TAC		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			22	56	0	0	0	1	0	22	56				
ZNF511	118472	broad.mit.edu	37	10	135123360	135123360	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr10:135123360C>T	ENST00000359035.3	+	3	311	c.308C>T	c.(307-309)aCg>aTg	p.T103M	TUBGCP2_ENST00000368563.2_5'Flank|ZNF511_ENST00000463816.2_Intron|TUBGCP2_ENST00000470829.1_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M|TUBGCP2_ENST00000417178.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACTACCACACGCTGCACGGA	0.622																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(307-309)aCg>aTg		zinc finger protein 511							121.0	87.0	99.0					10																	135123360		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123360C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.308C>T	10.37:g.135123360C>T	ENSP00000351929:p.Thr103Met		Somatic				ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M	p.T103M			WXS	Illumina GAIIx	Phase_I	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	3	311	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	103					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.308C>T		.	.	.	.	.	.	.	.	.	.	C	14.86	2.661848	0.47572	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88741	-2.42;-2.42;-2.42	5.2	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.362109	0.32106	N	0.006566	T	0.77877	0.4196	L	0.37897	1.145	0.25754	N	0.98502	P;B;P	0.40660	0.726;0.331;0.466	B;B;B	0.27380	0.079;0.023;0.071	T	0.67457	-0.5666	10	0.35671	T	0.21	-20.4314	8.0905	0.30797	0.0:0.7754:0.0:0.2246	.	103;38;103	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	M	103;103;38	ENSP00000355251:T103M;ENSP00000351929:T103M;ENSP00000357542:T38M	ENSP00000351929:T103M	T	+	2	0	ZNF511	134973350	0.788000	0.28762	0.978000	0.43139	0.928000	0.56348	2.397000	0.44477	0.586000	0.29626	0.650000	0.86243	ACG		0.622	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		19	28	0	0	0	1	0	19	28				
MYO18B	84700	broad.mit.edu	37	22	26422803	26422803	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr22:26422803C>A	ENST00000407587.2	+	43	7035	c.6866C>A	c.(6865-6867)aCa>aAa	p.T2289K	MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K|MYO18B_ENST00000335473.7_Missense_Mutation_p.T2288K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2288						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGCCTCCACACTAAGGAGG	0.642																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6862-6864)aCa>aAa		myosin XVIIIB							17.0	21.0	20.0					22																	26422803		1890	4101	5991	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422803C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6866C>A	22.37:g.26422803C>A	ENSP00000386096:p.Thr2289Lys		Somatic				MYO18B_ENST00000407587.2_Missense_Mutation_p.T2289K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K	p.T2288K	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			43	7113	+			2288					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6863C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.765044|2.765044	0.49574|0.49574	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87650	.|-2.26;-2.26;-2.28	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.49916	.|D	.|0.000122	D|D	0.84370|0.84370	0.5457|0.5457	L|L	0.54323|0.54323	1.7|1.7	0.25374|0.25374	N|N	0.988673|0.988673	.|B;B;B;B;B	.|0.33583	.|0.279;0.294;0.294;0.418;0.418	.|B;B;B;B;B	.|0.30855	.|0.052;0.057;0.057;0.121;0.121	T|T	0.80276|0.80276	-0.1450|-0.1450	5|10	.|0.72032	.|D	.|0.01	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1801;2290;2288;2289;2288	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	N|K	238|2288;2288;2289	.|ENSP00000441229:T2288K;ENSP00000334563:T2288K;ENSP00000386096:T2289K	.|ENSP00000334563:T2288K	H|T	+|+	1|2	0|0	MYO18B|MYO18B	24752803|24752803	0.005000|0.005000	0.15991|0.15991	0.552000|0.552000	0.28243|0.28243	0.662000|0.662000	0.39071|0.39071	2.103000|2.103000	0.41806|0.41806	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	CAC|ACA		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		2	2	1	0	1	1	1	2	2				
TNFSF14	8740	broad.mit.edu	37	19	6669873	6669873	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:6669873T>G	ENST00000599359.1	-	2	589	c.208A>C	c.(208-210)Acc>Ccc	p.T70P	TNFSF14_ENST00000326176.9_Intron|TNFSF14_ENST00000245912.3_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	70					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.T70P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGCAGGCGGGTGACCATCTCT	0.652																																						ENST00000599359.1																			1	Substitution - Missense(1)	p.T70P(1)	kidney(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(208-210)Acc>Ccc		tumor necrosis factor (ligand) superfamily, member 14							50.0	49.0	49.0					19																	6669873		2202	4300	6502	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669873T>G	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.208A>C	19.37:g.6669873T>G	ENSP00000469049:p.Thr70Pro		Somatic				TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron	p.T70P			WXS	Illumina GAIIx	Phase_I	O43557	TNF14_HUMAN			2	589	-			70					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.208A>C	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999471	0.35320	.	.	ENSG00000125735	ENST00000245912	T	0.30714	1.52	4.89	-9.78	0.00496	.	1.411940	0.04554	U	0.390410	T	0.20536	0.0494	L	0.44542	1.39	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.41790	T	0.15	-5.1032	6.9626	0.24605	0.0:0.2632:0.2157:0.5211	.	70	O43557	TNF14_HUMAN	P	70	ENSP00000245912:T70P	ENSP00000245912:T70P	T	-	1	0	TNFSF14	6620873	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.729000	0.00381	-1.317000	0.02292	-0.313000	0.08912	ACC		0.652	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			6	37	0	0	0	1	0	6	37				
ERBB4	2066	broad.mit.edu	37	2	212484000	212484000	+	Splice_Site	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr2:212484000C>A	ENST00000342788.4	-	19	2513	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	ERBB4_ENST00000402597.1_Splice_Site_p.G725C|ERBB4_ENST00000436443.1_Splice_Site_p.G735C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACCCAAATACCCTTTGGGGAA	0.338										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2203-2205)Ggt>Tgt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							73.0	73.0	73.0					2																	212484000		2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212484000C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2203-1G>T	2.37:g.212484000C>A		TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	p.G735C	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	19	2513	-		Renal(323;0.06)|Lung NSC(271;0.197)	735			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37	c.2203G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260008|5.260008	0.95368|0.95368	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|D	0.86694|0.90676	-2.16;-2.16;-2.16|-2.71	4.91|4.91	4.91|4.91	0.64330|0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.95389|0.95389	0.8503|0.8503	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	D|D	0.96085|0.96085	0.9057|0.9057	10|7	0.87932|0.87932	D|D	0|0	.|.	18.0478|18.0478	0.89338|0.89338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	725;725;735;735|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	C|N	735;735;725|724	ENSP00000342235:G735C;ENSP00000403204:G735C;ENSP00000385565:G725C|ENSP00000260943:K724N	ENSP00000342235:G735C|ENSP00000260943:K724N	G|K	-|-	1|3	0|2	ERBB4|ERBB4	212192245|212192245	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.568000|0.568000	0.35870|0.35870	7.426000|7.426000	0.80270|0.80270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Missense_Mutation	11	36	1	0	0.000673444	1	0.000705513	11	36				
SNTN	132203	broad.mit.edu	37	3	63638463	63638463	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:63638463A>T	ENST00000343837.3	+	1	120	c.100A>T	c.(100-102)Atg>Ttg	p.M34L	SNTN_ENST00000496807.1_Missense_Mutation_p.M30L	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	34						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						ACCTAGGAAAATGCCCAAAAG	0.448																																						ENST00000496807.1																			0				endometrium(2)|ovary(1)	3						c.(88-90)Atg>Ttg		sentan, cilia apical structure protein							95.0	77.0	83.0					3																	63638463		2203	4300	6503	SO:0001583	missense	132203					cilium	calcium ion binding	g.chr3:63638463A>T	AK126350	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817			33706	protein-coding gene	gene with protein product	"""S100A-like protein"""					18829862	Standard	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	A6NMZ2	OTTHUMG00000158766	ENST00000343837.3:c.100A>T	3.37:g.63638463A>T	ENSP00000341442:p.Met34Leu		Somatic				SNTN_ENST00000343837.3_Missense_Mutation_p.M34L	p.M30L			WXS	Illumina GAIIx	Phase_I	A6NMZ2	SNTAN_HUMAN			1	90	+			34					B7FF65	Missense_Mutation	SNP	ENST00000343837.3	37	c.88A>T	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126273	0.37533	.	.	ENSG00000188817	ENST00000343837;ENST00000469440;ENST00000496807	T	0.43294	0.95	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.68317	2.08	0.33196	D	0.551526	P	0.51147	0.942	D	0.67231	0.95	T	0.69978	-0.4998	10	0.44086	T	0.13	-15.0832	11.8253	0.52263	1.0:0.0:0.0:0.0	.	34	A6NMZ2	SNTAN_HUMAN	L	34;34;30	ENSP00000341442:M34L	ENSP00000341442:M34L	M	+	1	0	SNTN	63613503	0.999000	0.42202	0.994000	0.49952	0.564000	0.35744	4.461000	0.60115	2.113000	0.64589	0.482000	0.46254	ATG		0.448	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1	NM_001080537		13	23	0	0	0	1	0	13	23				
TLDC2	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr20:35507473C>T	ENST00000217320.3	+	3	263	c.219C>T	c.(217-219)acC>acT	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	73								p.T73T(1)									CAAGAGTCACCGGCCATCCCT	0.632																																						ENST00000217320.3																			1	Substitution - coding silent(1)	p.T73T(1)	large_intestine(1)								c.(217-219)acC>acT		TBC/LysM-associated domain containing 2							123.0	96.0	105.0					20																	35507473		2203	4300	6503	SO:0001819	synonymous_variant	140711							g.chr20:35507473C>T	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.219C>T	20.37:g.35507473C>T			Somatic				TLDC2_ENST00000602922.1_Silent_p.T73T	p.T73T	NM_080628.1	NP_542195.1	WXS	Illumina GAIIx	Phase_I					3	263	+								B3KVU8	Silent	SNP	ENST00000217320.3	37	c.219C>T	CCDS33465.1																																																																																				0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		3	88	0	0	0	1	0	3	88				
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		10	Substitution - Missense(10)	p.R183Q(10)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)cGg>cAg		protein phosphatase 2, regulatory subunit A, alpha							75.0	60.0	65.0					19																	52715983		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	p.R183Q	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	606	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	PPP2R1A	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		15	31	0	0	0	1	0	15	31				
ZNF518B	85460	broad.mit.edu	37	4	10444852	10444852	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr4:10444852C>T	ENST00000326756.3	-	3	3539	c.3101G>A	c.(3100-3102)tGt>tAt	p.C1034Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1034					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTAAATACACACTGTGAAGA	0.393																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(3100-3102)tGt>tAt		zinc finger protein 518B							114.0	106.0	109.0					4																	10444852		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444852C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.3101G>A	4.37:g.10444852C>T	ENSP00000317614:p.Cys1034Tyr		Somatic					p.C1034Y	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	3539	-			1034					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.3101G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224291	0.58668	.	.	ENSG00000178163	ENST00000326756	T	0.01685	4.69	6.06	6.06	0.98353	.	0.250043	0.36303	N	0.002673	T	0.04724	0.0128	L	0.43152	1.355	0.29957	N	0.819761	D	0.64830	0.994	P	0.52672	0.706	T	0.02632	-1.1131	10	0.87932	D	0	-15.7531	15.1281	0.72497	0.0:0.8593:0.1407:0.0	.	1034	Q9C0D4	Z518B_HUMAN	Y	1034	ENSP00000317614:C1034Y	ENSP00000317614:C1034Y	C	-	2	0	ZNF518B	10053950	0.915000	0.31059	0.992000	0.48379	0.704000	0.40688	2.137000	0.42130	2.882000	0.98803	0.655000	0.94253	TGT		0.393	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		18	40	0	0	0	1	0	18	40				
ALDH9A1	223	broad.mit.edu	37	1	165664619	165664619	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:165664619G>A	ENST00000354775.4	-	2	501	c.197C>T	c.(196-198)aCt>aTt	p.T66I	ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	42					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACATGTGAAAGTAGCTATCAC	0.348																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(196-198)aCt>aTt		aldehyde dehydrogenase 9 family, member A1	NADH(DB00157)						92.0	92.0	92.0					1																	165664619		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165664619G>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.197C>T	1.37:g.165664619G>A	ENSP00000346827:p.Thr66Ile		Somatic				ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	p.T66I	NM_000696.3	NP_000687.3	WXS	Illumina GAIIx	Phase_I	P49189	AL9A1_HUMAN			2	501	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		42					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.197C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118569	0.37436	.	.	ENSG00000143149	ENST00000354775	T	0.77358	-1.09	5.44	3.46	0.39613	.	0.387023	0.31963	N	0.006792	T	0.60077	0.2241	L	0.59912	1.85	0.35257	D	0.779200	B;B	0.33964	0.307;0.434	B;B	0.36766	0.178;0.232	T	0.60156	-0.7318	9	0.40728	T	0.16	.	8.7029	0.34336	0.0845:0.1529:0.7626:0.0	.	56;66	B4DX14;B9EKV4	.;.	I	66	ENSP00000346827:T66I	ENSP00000346827:T66I	T	-	2	0	ALDH9A1	163931243	1.000000	0.71417	0.983000	0.44433	0.787000	0.44495	1.991000	0.40727	1.295000	0.44724	-0.140000	0.14226	ACT		0.348	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			3	64	0	0	0	1	0	3	64				
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)ggcdel		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del		Somatic					p.G59del	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	4						2	4	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT			Somatic						NR_003934.1		WXS	Illumina GAIIx	Phase_I					0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	4						3	4	---	---	---	---
MAPKAPK5	8550	broad.mit.edu	37	12	112330858	112330858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr12:112330858delC	ENST00000551404.2	+	14	1523	c.1415delC	c.(1414-1416)tccfs	p.S472fs	MAPKAPK5_ENST00000550735.2_Frame_Shift_Del_p.S470fs			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	472					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCCCACGAATCCCAATAATGA	0.303																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1408-1410)tccfs		mitogen-activated protein kinase-activated protein kinase 5							71.0	69.0	70.0					12																	112330858		1853	4096	5949	SO:0001589	frameshift_variant	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112330858delC	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1415delC	12.37:g.112330858delC	ENSP00000449381:p.Ser472fs		Somatic				MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.S472fs	p.S470fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	WXS	Illumina GAIIx	Phase_I	Q8IW41	MAPK5_HUMAN			14	2165	+			472					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Frame_Shift_Del	DEL	ENST00000551404.2	37	c.1409delC	CCDS44975.1																																																																																				0.303	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		2	4						2	4	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732943	74732969	+	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_472	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	c.(274-300)tacggccgccccccggactcacaccacdel	p.YGRPPDSHH92del	MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.736			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		189	Substitution - Missense(158)|Deletion - In frame(23)|Unknown(6)|Complex - insertion inframe(1)|Insertion - In frame(1)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)	haematopoietic_and_lymphoid_tissue(189)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(274-300)tacggccgccccccggactcacaccacdel		serine/arginine-rich splicing factor 2																																				SO:0001651	inframe_deletion	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	17.37:g.74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His100del		Somatic				MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del	p.YGRPPDSHH92del	NM_003016.4	NP_003007.2	WXS	Illumina GAIIx	Phase_I	Q01130	SRSF2_HUMAN			1	446_472	-			92			RRM.		B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	CCDS11749.1																																																																																				0.736	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		7	28						7	28	---	---	---	---
