#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
PHF7	51533	broad.mit.edu	37	3	52443593	52443593	+	5'Flank	SNP	G	G	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr3:52443593G>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*|BAP1_ENST00000460680.1_Nonsense_Mutation_p.Y33*|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCTGAAGGTCGTAGATCTCCT	0.612																																						ENST00000460680.1										"""N, Mis, F, S, O"""						"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(97-99)taC>taG		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							221.0	230.0	227.0					3																	52443593		2203	4300	6503	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443593G>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443593G>C	Exception_encountered		Somatic				BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*	p.Y33*	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	570	-			33					K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	c.99C>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915801	0.92178	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.97	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7504	9.8713	0.41175	0.9174:0.0:0.0826:0.0	.	.	.	.	X	33	.	ENSP00000296288:Y33X	Y	-	3	2	BAP1	52418633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.702000	0.54800	0.761000	0.33130	-0.302000	0.09304	TAC		0.612	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		59	22	0	0	0	1	0	59	22				
ALPI	248	broad.mit.edu	37	2	233323457	233323457	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:233323457C>T	ENST00000295463.3	+	10	1376	c.1299C>T	c.(1297-1299)agC>agT	p.S433S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	433					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAGCGAGAGCGGTGAGTGAG	0.647																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)agC>agT		alkaline phosphatase, intestinal							57.0	54.0	55.0					2																	233323457		2203	4300	6503	SO:0001630	splice_region_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323457C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1300+1C>T	2.37:g.233323457C>T			Somatic					p.S433S	NM_001631.3	NP_001622.2	WXS	Illumina GAIIx	Phase_I	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	10	1376	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	433					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Splice_Site	SNP	ENST00000295463.3	37	c.1299C>T	CCDS2492.1																																																																																				0.647	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631	Silent	15	20	0	0	0	1	0	15	20				
SEMA4A	64218	broad.mit.edu	37	1	156146412	156146412	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:156146412C>G	ENST00000368285.3	+	15	2177	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	637					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S637F(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTGATCTCCTACTGGGTG	0.577																																						ENST00000368285.3																			1	Substitution - Missense(1)	p.S637F(1)	NS(1)	breast(1)|ovary(2)|skin(2)	5						c.(1909-1911)tCc>tGc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							101.0	106.0	104.0					1																	156146412		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156146412C>G	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1910C>G	1.37:g.156146412C>G	ENSP00000357268:p.Ser637Cys		Somatic				SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C	p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	WXS	Illumina GAIIx	Phase_I	Q9H3S1	SEM4A_HUMAN			15	2177	+	Hepatocellular(266;0.158)		637					B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1910C>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630652	0.28978	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.01	5.01	0.66863	.	0.676221	0.15501	N	0.259048	T	0.33352	0.0860	M	0.69823	2.125	0.31702	N	0.640558	B;B	0.32040	0.353;0.353	B;B	0.32762	0.152;0.152	T	0.40553	-0.9557	10	0.56958	D	0.05	.	10.9839	0.47510	0.1866:0.8134:0.0:0.0	.	505;637	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	C	637;637;505;599;599;505;637	ENSP00000347117:S637C;ENSP00000357268:S637C;ENSP00000357267:S505C;ENSP00000357269:S505C;ENSP00000357265:S637C	ENSP00000347117:S637C	S	+	2	0	SEMA4A	154413036	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.074000	0.41529	2.336000	0.79503	0.313000	0.20887	TCC		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		13	24	0	0	0	1	0	13	24				
TFDP3	51270	broad.mit.edu	37	X	132351713	132351713	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:132351713T>C	ENST00000310125.4	-	1	663	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	192	Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGAGCCGAGTTGGTGGTCAG	0.433																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(574-576)aAc>aGc		transcription factor Dp family, member 3							105.0	96.0	99.0					X																	132351713		2203	4300	6503	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351713T>C	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.575A>G	X.37:g.132351713T>C	ENSP00000385461:p.Asn192Ser		Somatic					p.N192S	NM_016521.2	NP_057605.3	WXS	Illumina GAIIx	Phase_I	Q5H9I0	TFDP3_HUMAN			1	663	-	Acute lymphoblastic leukemia(192;0.000127)		192			Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.575A>G	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	4.023	0.001782	0.07819	.	.	ENSG00000183434	ENST00000310125	T	0.25912	1.77	0.208	-0.415	0.12355	Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	N	0.17631	0.505	0.58432	D	0.999998	B	0.31290	0.318	B	0.31191	0.125	T	0.15435	-1.0437	9	0.45353	T	0.12	.	4.1341	0.10162	0.0:0.0:0.3486:0.6514	.	192	Q5H9I0	TFDP3_HUMAN	S	192	ENSP00000385461:N192S	ENSP00000385461:N192S	N	-	2	0	TFDP3	132179379	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	3.782000	0.55401	-1.079000	0.03113	-1.113000	0.02065	AAC		0.433	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		14	17	0	0	0	1	0	14	17				
C3	718	broad.mit.edu	37	19	6684417	6684417	+	Missense_Mutation	SNP	A	A	G	rs146172605	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:6684417A>G	ENST00000245907.6	-	33	4246	c.4154T>C	c.(4153-4155)aTc>aCc	p.I1385T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATCTCAAGGATCATAGTGTT	0.448																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4153-4155)aTc>aCc		complement component 3							140.0	140.0	140.0					19																	6684417		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684417A>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4154T>C	19.37:g.6684417A>G	ENSP00000245907:p.Ile1385Thr		Somatic					p.I1385T	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4246	-			1385					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4154T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	0.831	-0.745322	0.03065	.	.	ENSG00000125730	ENST00000245907	T	0.28666	1.6	5.05	0.216	0.15258	Alpha-macroglobulin, receptor-binding (2);	1.727610	0.02632	N	0.104516	T	0.16428	0.0395	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11867	-1.0570	10	0.07482	T	0.82	.	2.4924	0.04614	0.4546:0.0:0.196:0.3494	.	1385	P01024	CO3_HUMAN	T	1385	ENSP00000245907:I1385T	ENSP00000245907:I1385T	I	-	2	0	C3	6635417	0.004000	0.15560	0.203000	0.23512	0.245000	0.25701	-0.080000	0.11339	0.314000	0.23086	0.473000	0.43528	ATC		0.448	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		37	49	0	0	0	1	0	37	49				
CEP89	84902	broad.mit.edu	37	19	33444541	33444541	+	Missense_Mutation	SNP	C	C	T	rs569909161	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:33444541C>T	ENST00000305768.5	-	4	560	c.472G>A	c.(472-474)Gct>Act	p.A158T	CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	158					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTGGCACAGCGTACAGGTCA	0.478													C|||	4	0.000798722	0.0	0.0	5008	,	,		17065	0.0		0.0	False		,,,				2504	0.0041					ENST00000305768.5																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(472-474)Gct>Act		centrosomal protein 89kDa							426.0	460.0	448.0					19																	33444541		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33444541C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.472G>A	19.37:g.33444541C>T	ENSP00000306105:p.Ala158Thr		Somatic				CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	p.A158T	NM_032816.3	NP_116205.3	WXS	Illumina GAIIx	Phase_I	Q96ST8	CEP89_HUMAN			4	560	-								B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.472G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351801	0.24512	.	.	ENSG00000121289	ENST00000305768	T	0.37235	1.21	5.12	1.75	0.24633	.	0.965087	0.08559	N	0.927728	T	0.28366	0.0701	L	0.56769	1.78	0.09310	N	1	P;P;B	0.50819	0.939;0.938;0.451	B;B;B	0.36092	0.214;0.217;0.042	T	0.22382	-1.0218	10	0.48119	T	0.1	-0.3937	4.5944	0.12322	0.1748:0.6391:0.0:0.1861	.	129;158;158	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	T	158	ENSP00000306105:A158T	ENSP00000306105:A158T	A	-	1	0	CEP89	38136381	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.467000	0.06664	0.242000	0.21303	0.591000	0.81541	GCT		0.478	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		8	390	0	0	0	1	0	8	390				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		28	44	0	0	0	1	0	28	44				
PLD5	200150	broad.mit.edu	37	1	242264008	242264008	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:242264008C>T	ENST00000536534.2	-	9	1557	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	PLD5_ENST00000427495.1_Missense_Mutation_p.R377H|PLD5_ENST00000442594.2_Missense_Mutation_p.R347H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	439	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTACTTGTTGCGATTTAACCT	0.448																																						ENST00000536534.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1315-1317)cGc>cAc		phospholipase D family, member 5							242.0	205.0	218.0					1																	242264008		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242264008C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1316G>A	1.37:g.242264008C>T	ENSP00000440896:p.Arg439His		Somatic				PLD5_ENST00000442594.2_Missense_Mutation_p.R347H|PLD5_ENST00000427495.1_Missense_Mutation_p.R377H	p.R439H			WXS	Illumina GAIIx	Phase_I	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		9	1557	-	Melanoma(84;0.242)					PLD phosphodiesterase 2.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1316G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282617	0.10458	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.00476	7.15;7.15;7.15	5.5	5.5	0.81552	Phospholipase D/Transphosphatidylase (1);	0.221081	0.48286	D	0.000189	T	0.00178	0.0005	N	0.01446	-0.86	0.41076	D	0.985485	B;B;B	0.32425	0.371;0.132;0.208	B;B;B	0.21708	0.036;0.005;0.036	T	0.66626	-0.5876	10	0.02654	T	1	-14.9538	17.1809	0.86855	0.0:1.0:0.0:0.0	.	347;439;377	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	377;347;439	ENSP00000401285:R377H;ENSP00000414188:R347H;ENSP00000440896:R439H	ENSP00000401285:R377H	R	-	2	0	PLD5	240330631	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.645000	0.54389	2.578000	0.87016	0.650000	0.86243	CGC		0.448	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		17	27	0	0	0	1	0	17	27				
PGR	5241	broad.mit.edu	37	11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:100999546C>T	ENST00000325455.5	-	1	1709	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTGGAATATGCGCCCTCCACG	0.602																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(256-258)Gca>Aca		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						69.0	62.0	65.0					11																	100999546		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999546C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.256G>A	11.37:g.100999546C>T	ENSP00000325120:p.Ala86Thr		Somatic				PGR_ENST00000263463.5_Missense_Mutation_p.A86T|PGR_ENST00000534013.1_Intron	p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	WXS	Illumina GAIIx	Phase_I	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1709	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	86			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.256G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515342	0.27123	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08984	3.03;3.03	4.2	2.24	0.28232	.	0.965129	0.08471	N	0.940932	T	0.09247	0.0228	M	0.62723	1.935	0.09310	N	1	P;P	0.40681	0.727;0.727	B;B	0.32211	0.105;0.142	T	0.29058	-1.0024	10	0.62326	D	0.03	.	7.2339	0.26059	0.1994:0.4663:0.3343:0.0	.	86;86	Q8TDS3;P06401	.;PRGR_HUMAN	T	86	ENSP00000325120:A86T;ENSP00000263463:A86T	ENSP00000263463:A86T	A	-	1	0	PGR	100504756	0.000000	0.05858	0.049000	0.19019	0.126000	0.20510	-0.089000	0.11180	0.367000	0.24454	-0.397000	0.06425	GCA		0.602	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			3	48	0	0	0	1	0	3	48				
PSG6	5675	broad.mit.edu	37	19	43411102	43411102	+	Silent	SNP	G	G	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:43411102G>T	ENST00000292125.2	-	5	1256	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	PSG6_ENST00000187910.2_Silent_p.I404I|PSG6_ENST00000402603.4_Silent_p.I311I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	404	Ig-like C2-type 3.		I -> S (in dbSNP:rs1065525).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGATTTGGAGATTTCCTTGC	0.453																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1210-1212)atC>atA		pregnancy specific beta-1-glycoprotein 6							194.0	200.0	198.0					19																	43411102		2201	4299	6500	SO:0001819	synonymous_variant	5675							g.chr19:43411102G>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1212C>A	19.37:g.43411102G>T			Somatic				PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000292125.2_Silent_p.I404I	p.I404I	NM_001031850.3	NP_001027020.1	WXS	Illumina GAIIx	Phase_I					5	1277	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1212C>A	CCDS12613.1																																																																																				0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		63	109	1	0	2.03366e-24	1	2.03366e-24	63	109				
EPS8L2	64787	broad.mit.edu	37	11	722155	722155	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:722155C>T	ENST00000533256.1	+	13	1424	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	350					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTTCGGGCCTCTGGACCTG	0.721																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1048-1050)cCt>cTt		EPS8-like 2							17.0	19.0	19.0					11																	722155		2201	4297	6498	SO:0001583	missense	64787					cytoplasm		g.chr11:722155C>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1049C>T	11.37:g.722155C>T	ENSP00000435585:p.Pro350Leu		Somatic				EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA	p.P350L			WXS	Illumina GAIIx	Phase_I	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1424	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	350					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1049C>T	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.396184	0.83011	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.13	2.2	0.27929	.	0.434143	0.21137	N	0.079544	T	0.39091	0.1065	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.12344	-1.0551	10	0.62326	D	0.03	-15.4899	9.2014	0.37260	0.0:0.8858:0.0:0.1142	.	366;350	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	L	350;350;350;366	ENSP00000320828:P350L;ENSP00000435585:P350L;ENSP00000436035:P350L;ENSP00000436230:P366L	ENSP00000320828:P350L	P	+	2	0	EPS8L2	712155	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	5.022000	0.64078	0.670000	0.31165	0.486000	0.48141	CCT		0.721	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		6	12	0	0	0	1	0	6	12				
AADACL4	343066	broad.mit.edu	37	1	12711246	12711246	+	Silent	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:12711246C>T	ENST00000376221.1	+	2	273	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	91						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGTGACCGACCTGCGTTTTG	0.493																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(271-273)gaC>gaT		arylacetamide deacetylase-like 4							94.0	92.0	93.0					1																	12711246		2203	4300	6503	SO:0001819	synonymous_variant	343066					integral to membrane	carboxylesterase activity	g.chr1:12711246C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.273C>T	1.37:g.12711246C>T			Somatic					p.D91D	NM_001013630.1	NP_001013652.1	WXS	Illumina GAIIx	Phase_I	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	273	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	91						Silent	SNP	ENST00000376221.1	37	c.273C>T	CCDS30590.1																																																																																				0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		41	52	0	0	0	1	0	41	52				
RPL11	6135	broad.mit.edu	37	1	24019228	24019229	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:24019228_24019229insAG	ENST00000374550.3	+	2	181_182	c.136_137insAG	c.(136-138)cagfs	p.Q46fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCTCACAGGGCAGACCCCTGTG	0.535																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(136-138)cagfs		ribosomal protein L11																																				SO:0001589	frameshift_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019228_24019229insAG	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.137_138dupAG	1.37:g.24019229_24019230dupAG	ENSP00000363676:p.Gln46fs		Somatic				RPL11_ENST00000482370.1_3'UTR	p.Q46fs	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	WXS	Illumina GAIIx	Phase_I	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	181_182	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	46					P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Ins	INS	ENST00000374550.3	37	c.136_137insAG	CCDS238.1																																																																																				0.535	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		47	66						47	66	---	---	---	---
GBX2	2637	broad.mit.edu	37	2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-	rs557135639|rs559648034	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(184-189)ccgccc>ccc		gastrulation brain homeobox 2																																				SO:0001651	inframe_deletion	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076427_237076429delGGC	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.186_188delGCC	2.37:g.237076436_237076438delGGC	ENSP00000302251:p.Pro63del		Somatic				AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000483218.1_RNA	p.62_63PP>P	NM_001485.2	NP_001476.2	WXS	Illumina GAIIx	Phase_I	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	583_585	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	62			Poly-Pro.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	ENST00000306318.4	37	c.186_188delGCC	CCDS2515.1																																																																																				0.754	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		2	4						2	4	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41790122	41790146	+	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	CTGCTGGTGAGCAGCCGCAGAGGGC	-	rs140666969|rs145754397|rs181712540	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENST00000396930.3	-	18	6135_6159	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	c.(5590-5616)ctgccctctgcggctgctcaccagcagfs	p.LPSAAAHQQ1864fs	KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1864					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAG	0.587																																						ENST00000396930.3																			0											c.(5590-5616)ctgccctctgcggctgctcaccagcagfs		K(lysine) acetyltransferase 6A																																				SO:0001589	frameshift_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	8.37:g.41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENSP00000380136:p.Leu1864fs		Somatic				KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			18	6135_6159	-			1864					Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	37	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	CCDS6124.1																																																																																				0.587	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	2						5	2	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55																																						ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAAC																													12.37:g.13174148_13174150dupAAC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			4	6						4	6	---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39664276	39664278	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:39664276_39664278delTCC	ENST00000593690.1	+	6	1151_1153	c.724_726delTCC	c.(724-726)tccdel	p.S247del	PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000360442.3_In_Frame_Del_p.S247del|PAK4_ENST00000599386.1_In_Frame_Del_p.S94del|PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	247	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCCCCCAGTCCTCCTCCTCCT	0.7																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(265-267)tccdel		p21 protein (Cdc42/Rac)-activated kinase 4																																				SO:0001651	inframe_deletion	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664276_39664278delTCC	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.724_726delTCC	19.37:g.39664285_39664287delTCC	ENSP00000469413:p.Ser247del		Somatic				PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000593690.1_In_Frame_Del_p.S247del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del|PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000360442.3_In_Frame_Del_p.S247del	p.S94del	NM_001014835.1	NP_001014835.1	WXS	Illumina GAIIx	Phase_I	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	446_448	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		247			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	In_Frame_Del	DEL	ENST00000593690.1	37	c.265_267delTCC	CCDS12528.1																																																																																				0.700	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			3	6						3	6	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)ctgcgc>cgc		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		Somatic	OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	p.L23del	NM_006307.4	NP_006298.1	WXS	Illumina GAIIx	Phase_I	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	4						6	4	---	---	---	---
