#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FANCD2	2177	broad.mit.edu	37	3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	ENST00000419585.1	+	10	933	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000287647.3_Missense_Mutation_p.F258V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	258	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACCCAAACTTCCTATTGAA	0.438			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(772-774)Ttc>Gtc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							90.0	87.0	88.0					3																	10083383		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10083383T>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.772T>G	3.37:g.10083383T>G	ENSP00000398754:p.Phe258Val					FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V|FANCD2_ENST00000419585.1_Missense_Mutation_p.F258V	p.F258V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	10	865	+			258			Interaction with BRCA2.|Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.772T>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	8.107	0.778025	0.16120	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.05	3.09	0.35607	.	0.119284	0.56097	D	0.000023	T	0.27063	0.0663	N	0.14661	0.345	0.27360	N	0.95598	B;B	0.24132	0.098;0.098	B;B	0.26969	0.075;0.075	T	0.16247	-1.0409	10	0.23891	T	0.37	.	7.4563	0.27268	0.0:0.7639:0.0:0.2361	.	258;258	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	258	ENSP00000287647:F258V;ENSP00000373318:F258V;ENSP00000373317:F258V;ENSP00000398754:F258V	ENSP00000287647:F258V	F	+	1	0	FANCD2	10058383	0.848000	0.29623	0.058000	0.19502	0.016000	0.09150	1.452000	0.35156	0.483000	0.27608	-0.479000	0.04858	TTC		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			11	25	0	0	0	1	0	11	25				
ALPP	250	broad.mit.edu	37	2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	ENST00000392027.2	+	2	375	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	36					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(106-108)Cgc>Tgc		alkaline phosphatase, placental							67.0	81.0	76.0					2																	233243710		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243710C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.106C>T	2.37:g.233243710C>T	ENSP00000375881:p.Arg36Cys						p.R36C	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	375	+		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)	36					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.106C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	6.477	0.456152	0.12283	.	.	ENSG00000163283	ENST00000392027	T	0.38401	1.14	2.32	2.32	0.28847	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.673460	0.02939	N	0.140242	T	0.34308	0.0893	L	0.49350	1.555	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.28138	-1.0053	10	0.59425	D	0.04	.	4.861	0.13583	0.3213:0.4952:0.1834:0.0	.	36	P05187	PPB1_HUMAN	C	36	ENSP00000375881:R36C	ENSP00000375881:R36C	R	+	1	0	ALPP	232951954	0.000000	0.05858	0.343000	0.25615	0.412000	0.31113	-0.293000	0.08320	1.294000	0.44707	0.306000	0.20318	CGC		0.632	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		9	97	0	0	0	1	0	9	97				
TRIOBP	11078	broad.mit.edu	37	22	38120527	38120527	+	Missense_Mutation	SNP	G	G	A	rs148083430	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:38120527G>A	ENST00000406386.3	+	7	2219	c.1964G>A	c.(1963-1965)cGg>cAg	p.R655Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	655					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTGCCCGACGGGACGATCCC	0.587													G|||	5	0.000998403	0.0008	0.0	5008	,	,		20818	0.0		0.004	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1963-1965)cGg>cAg		TRIO and F-actin binding protein		G	GLN/ARG	3,3949		0,3,1973	154.0	173.0	167.0		1964	-0.7	0.0	22	dbSNP_134	167	19,8323		0,19,4152	no	missense	TRIOBP	NM_001039141.2	43	0,22,6125	AA,AG,GG		0.2278,0.0759,0.1789	probably-damaging	655/2366	38120527	22,12272	1976	4171	6147	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120527G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1964G>A	22.37:g.38120527G>A	ENSP00000384312:p.Arg655Gln					RP1-37E16.12_ENST00000455236.1_RNA	p.R655Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2219	+	Melanoma(58;0.0574)		655					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1964G>A	CCDS43015.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	G	16.54	3.152888	0.57259	7.59E-4	0.002278	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19394	2.15	4.91	-0.704	0.11256	.	.	.	.	.	T	0.14227	0.0344	L	0.40543	1.245	0.09310	N	1	B	0.24882	0.113	B	0.14023	0.01	T	0.28554	-1.0040	9	0.26408	T	0.33	.	7.4635	0.27308	0.4612:0.0:0.5388:0.0	.	655	Q9H2D6	TARA_HUMAN	Q	655	ENSP00000384312:R655Q	ENSP00000384312:R655Q	R	+	2	0	TRIOBP	36450473	0.008000	0.16893	0.000000	0.03702	0.046000	0.14306	-0.183000	0.09712	-0.160000	0.11002	0.460000	0.39030	CGG		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	54	0	0	0	1	0	4	54				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	24	0	0	0	1	0	3	24				
BMI1	648	broad.mit.edu	37	10	22618234	22618234	+	Silent	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:22618234A>G	ENST00000376663.3	+	10	1249	c.744A>G	c.(742-744)gaA>gaG	p.E248E	COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	248					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATGCTGGAGAACTGGAAAGTG	0.483																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(742-744)gaA>gaG		BMI1 polycomb ring finger oncogene							81.0	76.0	78.0					10																	22618234		2203	4300	6503	SO:0001819	synonymous_variant	648							g.chr10:22618234A>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.744A>G	10.37:g.22618234A>G						COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	p.E248E	NM_005180.8	NP_005171.4					10	1249	+								Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	37	c.744A>G	CCDS7138.1																																																																																				0.483	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		4	49	0	0	0	1	0	4	49				
SYTL4	94121	broad.mit.edu	37	X	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	ENST00000372989.1	-	19	2313	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.R661H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H|RP11-524D16__A.3_ENST00000568809.1_RNA	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	661					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATTGAGGAACGGAGCTGCAG	0.567													C|||	2	0.000529801	0.0	0.0	3775	,	,		13093	0.002		0.0	False		,,,				2504	0.0					ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1981-1983)cGt>cAt		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	113.0	80.0	91.0		1982,1982,1982	5.8	1.0	X	dbSNP_134	91	2,6726		0,2,2426,1872	yes	missense,missense,missense	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	29,29,29	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging	661/672,661/672,661/672	99931059	2,10561	2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99931059C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1982G>A	X.37:g.99931059C>T	ENSP00000362080:p.Arg661His					SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.R661H	p.R661H			Q96C24	SYTL4_HUMAN			18	2328	-			661					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1982G>A	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335662	0.95758	0.0	2.97E-4	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87208	0.2245	9	.	.	.	-14.154	19.0061	0.92851	0.0:1.0:0.0:0.0	.	661	Q96C24	SYTL4_HUMAN	H	661;661;663;661;661	ENSP00000362080:R661H;ENSP00000390252:R661H;ENSP00000403556:R663H;ENSP00000276141:R661H;ENSP00000263033:R661H	.	R	-	2	0	SYTL4	99817715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.437000	0.82529	0.538000	0.68166	CGT		0.567	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		5	14	0	0	0	1	0	5	14				
MT1L	4500	broad.mit.edu	37	16	56652671	56652671	+	RNA	SNP	A	A	G	rs56169224	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr16:56652671A>G	ENST00000565768.1	+	0	352					NR_001447.2		Q93083	MT1L_HUMAN	metallothionein 1L (gene/pseudogene)						cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										AACCCTGAGCATTTGCTACAT	0.418													.|||	614	0.122604	0.121	0.1268	5008	,	,		20699	0.0784		0.1769	False		,,,				2504	0.1115					ENST00000565768.1																			0													metallothionein 1L (gene/pseudogene)																																						4500							g.chr16:56652671A>G	X97261		16q13	2012-04-20	2007-03-02		ENSG00000260549	ENSG00000260549		"""Metallothioneins"""	7404	protein-coding gene	gene with protein product		156358		MT1		16395595, 8049263, 9074634	Standard	NR_001447		Approved	MTF, MT1R	uc002ejj.4	Q93083	OTTHUMG00000176212		16.37:g.56652671A>G								NR_001447.2						0	352	+									RNA	SNP	ENST00000565768.1	37																																																																																						0.418	MT1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434383.1			3	15	0	0	0	1	0	3	15				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	16	0	0	0	1	0	24	16				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	21	0	0	0	1	0	3	21				
PAPPA	5069	broad.mit.edu	37	9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	ENST00000328252.3	+	21	5065	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1566					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGACAATTATTGTGATGC	0.527																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4696-4698)Tat>Aat		pregnancy-associated plasma protein A, pappalysin 1							141.0	123.0	129.0					9																	119144692		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119144692T>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4696T>A	9.37:g.119144692T>A	ENSP00000330658:p.Tyr1566Asn					PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N|PAPPA_ENST00000483254.1_3'UTR	p.Y1566N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			21	5065	+			1566					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4696T>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913830	0.92178	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	D;D	0.91792	-2.91;-2.91	6.17	6.17	0.99709	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95257	0.8365	10	0.87932	D	0	-33.686	16.8222	0.85835	0.0:0.0:0.0:1.0	.	604;1566	F5GZ19;Q13219	.;PAPP1_HUMAN	N	1566;604	ENSP00000330658:Y1566N;ENSP00000441461:Y604N	ENSP00000330658:Y1566N	Y	+	1	0	PAPPA	118184513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.594000	0.82698	2.371000	0.80710	0.533000	0.62120	TAT		0.527	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		9	88	0	0	0	1	0	9	88				
MAGEC2	51438	broad.mit.edu	37	X	141291734	141291734	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	ENST00000247452.3	-	3	387	c.40A>G	c.(40-42)Aac>Gac	p.N14D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	14					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCGTTGTCAACGTTG	0.522										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(40-42)Aac>Gac		melanoma antigen family C, 2							124.0	114.0	117.0					X																	141291734		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291734T>C	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.40A>G	X.37:g.141291734T>C	ENSP00000354660:p.Asn14Asp	HNSCC(46;0.14)					p.N14D	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	387	-	Acute lymphoblastic leukemia(192;6.56e-05)		14					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.40A>G	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.732659	0.00089	.	.	ENSG00000046774	ENST00000247452	T	0.02015	4.5	0.896	-1.79	0.07932	.	7.334620	0.00725	N	0.000915	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47381	-0.9122	9	0.38643	T	0.18	.	.	.	.	.	14	Q9UBF1	MAGC2_HUMAN	D	14	ENSP00000354660:N14D	ENSP00000354660:N14D	N	-	1	0	MAGEC2	141119400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.424000	0.01029	-2.268000	0.00685	-2.044000	0.00415	AAC		0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		17	100	0	0	0	1	0	17	100				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			5	4	1	0	0.014758	1	0.014758	5	4				
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr21:11098910G>A	ENST00000470054.1	-	0	15							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098910G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098910G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	15	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	14	0	0	0	1	0	3	14				
TMEM104	54868	broad.mit.edu	37	17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G	rs267605043		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	ENST00000335464.5	+	7	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	170						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTGCCCTTCTCCCTCATGCAG	0.567																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(508-510)tCc>tGc		transmembrane protein 104							169.0	137.0	148.0					17																	72791232		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72791232C>G	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.509C>G	17.37:g.72791232C>G	ENSP00000334849:p.Ser170Cys					TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C	p.S170C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			7	671	+	all_lung(278;0.23)		170					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.509C>G	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227429	0.79576	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.63580	4.19;-0.05	5.21	4.23	0.50019	.	0.170092	0.53938	D	0.000049	T	0.81908	0.4922	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.989	D	0.84139	0.0416	10	0.38643	T	0.18	-52.1311	15.4279	0.75069	0.1401:0.8599:0.0:0.0	.	183;170;170	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	C	170;183	ENSP00000334849:S170C;ENSP00000397676:S183C	ENSP00000334849:S170C	S	+	2	0	TMEM104	70302827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	1.299000	0.44798	0.655000	0.94253	TCC		0.567	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		8	23	0	0	0	1	0	8	23				
MED12	9968	broad.mit.edu	37	X	70341257	70341257	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	ENST00000374080.3	+	6	848	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_ENST00000333646.6_Missense_Mutation_p.L272F|MED12_ENST00000374102.1_Missense_Mutation_p.L272F			Q93074	MED12_HUMAN	mediator complex subunit 12	272					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(814-816)ttG>ttT		mediator complex subunit 12							131.0	116.0	121.0					X																	70341257		1972	4150	6122	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341257G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.816G>T	X.37:g.70341257G>T	ENSP00000363193:p.Leu272Phe					MED12_ENST00000374102.1_Missense_Mutation_p.L272F|MED12_ENST00000374080.3_Missense_Mutation_p.L272F	p.L272F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			6	1015	+	Renal(35;0.156)		272					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.816G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.505731	0.26949	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.59502	0.26;0.27;0.26;0.26	5.65	3.86	0.44501	.	0.080415	0.56097	D	0.000040	T	0.43831	0.1265	L	0.43152	1.355	0.48135	D	0.999595	B;B;B;B	0.17465	0.006;0.022;0.022;0.006	B;B;B;B	0.22386	0.029;0.012;0.039;0.013	T	0.48875	-0.8996	10	0.62326	D	0.03	-7.7956	1.9446	0.03354	0.1658:0.1208:0.4698:0.2435	.	272;119;272;272	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	272;272;272;272;240	ENSP00000333125:L272F;ENSP00000363215:L272F;ENSP00000363193:L272F;ENSP00000414203:L240F	ENSP00000333125:L272F	L	+	3	2	MED12	70257982	0.996000	0.38824	1.000000	0.80357	0.978000	0.69477	0.230000	0.17852	1.363000	0.46019	0.600000	0.82982	TTG		0.498	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	68	1	0	0.00307968	1	0.00313779	7	68				
ANKRD50	57182	broad.mit.edu	37	4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	ENST00000504087.1	-	4	4788	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3751-3753)Agt>Ggt		ankyrin repeat domain 50							181.0	183.0	183.0					4																	125590681		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590681T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3751A>G	4.37:g.125590681T>C	ENSP00000425658:p.Ser1251Gly					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	p.S1251G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4788	-			1251			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3751A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055823	0.36277	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68181	-0.31;-0.27	5.36	5.36	0.76844	.	0.042158	0.85682	D	0.000000	T	0.52917	0.1764	N	0.24115	0.695	0.38075	D	0.936483	B	0.22800	0.075	B	0.19946	0.027	T	0.52495	-0.8568	10	0.23891	T	0.37	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1251	Q9ULJ7	ANR50_HUMAN	G	1251;1072	ENSP00000425658:S1251G;ENSP00000425355:S1072G	ENSP00000425658:S1251G	S	-	1	0	ANKRD50	125810131	1.000000	0.71417	0.915000	0.36163	0.995000	0.86356	4.453000	0.60061	2.254000	0.74563	0.459000	0.35465	AGT		0.433	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		22	66	0	0	0	1	0	22	66				
PTPRJ	5795	broad.mit.edu	37	11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	ENST00000418331.2	+	8	1889	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	513	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCCTGGAACCAAGTATTG	0.428																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1537-1539)Acc>Gcc		protein tyrosine phosphatase, receptor type, J							87.0	85.0	86.0					11																	48152190		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48152190A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1537A>G	11.37:g.48152190A>G	ENSP00000400010:p.Thr513Ala					PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			8	1889	+			513			Fibronectin type-III 5.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1537A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169118	0.94768	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.60424	0.19;0.19	5.7	5.7	0.88788	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72366	0.3451	M	0.65498	2.005	0.43234	D	0.995134	D;D	0.76494	0.997;0.999	D;D	0.75020	0.976;0.985	T	0.74250	-0.3726	9	0.54805	T	0.06	.	12.364	0.55219	1.0:0.0:0.0:0.0	.	513;513	Q12913;Q6P4H4	PTPRJ_HUMAN;.	A	513	ENSP00000400010:T513A;ENSP00000409733:T513A	ENSP00000400010:T513A	T	+	1	0	PTPRJ	48108766	0.241000	0.23857	0.888000	0.34837	0.531000	0.34715	2.716000	0.47219	2.169000	0.68431	0.528000	0.53228	ACC		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			10	11	0	0	0	1	0	10	11				
HERC2P3	283755	broad.mit.edu	37	15	20588571	20588571	+	RNA	SNP	T	T	G	rs113432051	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:20588571T>G	ENST00000428453.1	-	0	4179							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAAGCCCAGTAGGCATCCAC	0.448													T|||	361	0.0720847	0.0772	0.0908	5008	,	,		34962	0.0		0.1292	False		,,,				2504	0.0675					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										T		49,4307		3,43,2132	132.0	101.0	112.0			-1.6	0.0	15	dbSNP_132	112	354,8128		40,274,3927	no	intergenic				43,317,6059	GG,GT,TT		4.1735,1.1249,3.1391			20588571	403,12435	2178	4241	6419			0							g.chr15:20588571T>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588571T>G														0	4179	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.448	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	30	0	0	0	1	0	5	30				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			8	23	0	0	0	1	0	8	23				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	37	0	0	0	1	0	4	37				
RWDD2A	112611	broad.mit.edu	37	6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	ENST00000369724.4	+	2	279	c.74A>G	c.(73-75)aAc>aGc	p.N25S	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	25	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443																																						ENST00000369724.4																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(73-75)aAc>aGc		RWD domain containing 2A							100.0	94.0	96.0					6																	83904244		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83904244A>G	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.74A>G	6.37:g.83904244A>G	ENSP00000358739:p.Asn25Ser					RWDD2A_ENST00000539997.1_Intron	p.N25S	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	2	279	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	25			RWD.		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.74A>G	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461861	0.26248	.	.	ENSG00000013392	ENST00000369724	T	0.21734	1.99	5.03	5.03	0.67393	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.071883	0.56097	D	0.000024	T	0.05731	0.0150	L	0.32530	0.975	0.80722	D	1	B	0.27117	0.168	B	0.29598	0.104	T	0.07578	-1.0765	10	0.07175	T	0.84	-29.9709	10.1745	0.42931	0.9227:0.0:0.0773:0.0	.	25	Q9UIY3	RWD2A_HUMAN	S	25	ENSP00000358739:N25S	ENSP00000358739:N25S	N	+	2	0	RWDD2A	83960963	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.485000	0.60279	2.099000	0.63709	0.533000	0.62120	AAC		0.443	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		8	17	0	0	0	1	0	8	17				
PDE4DIP	9659	broad.mit.edu	37	1	144856852	144856852	+	Silent	SNP	C	C	T	rs377520030		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	ENST00000369354.3	-	40	6822	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	PDE4DIP_ENST00000530740.1_Silent_p.A2296A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.A2347A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.A2211A(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7039-7041)gcG>gcA		phosphodiesterase 4D interacting protein							39.0	31.0	34.0					1																	144856852		2199	4286	6485	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856852C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6633G>A	1.37:g.144856852C>T						PDE4DIP_ENST00000369354.3_Silent_p.A2211A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|PDE4DIP_ENST00000524974.1_5'UTR	p.A2347A			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	7079	-			2211					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.7041G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	5.637	0.302253	0.10678	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-1.01	0.10169	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.32646	N	0.519982	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	1.5392	0.02551	0.1278:0.2204:0.3685:0.2833	.	.	.	.	H	288	.	.	R	-	2	0	PDE4DIP	143568209	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-1.120000	0.03273	0.239000	0.21243	-0.693000	0.03709	CGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	8	0	0	0	1	0	3	8				
A2M	2	broad.mit.edu	37	12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	ENST00000318602.7	-	24	3258	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	984					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGTACATAGATGTTAGGAGC	0.433																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2950-2952)aTc>aGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						116.0	110.0	112.0					12																	9232315		2079	4261	6340	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9232315A>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2951T>G	12.37:g.9232315A>C	ENSP00000323929:p.Ile984Ser					A2M_ENST00000542567.1_5'UTR	p.I984S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			24	3258	-			984					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2951T>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488948	0.84962	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.51071	0.72	5.08	5.08	0.68730	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	H	0.96518	3.835	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	D	0.85629	0.1269	10	0.87932	D	0	.	14.809	0.69979	1.0:0.0:0.0:0.0	.	984	P01023	A2MG_HUMAN	S	984;999	ENSP00000323929:I984S	ENSP00000323929:I984S	I	-	2	0	A2M	9123582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.307000	0.96226	2.042000	0.60477	0.383000	0.25322	ATC		0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	12	0	0	0	1	0	7	12				
PLEKHG1	57480	broad.mit.edu	37	6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	ENST00000358517.2	+	2	494	c.283T>C	c.(283-285)Tca>Cca	p.S95P	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.S95P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	95							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGTGGACTCAAACGGGGC	0.587																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(283-285)Tca>Cca		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							46.0	51.0	49.0					6																	151055100		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055100T>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.283T>C	6.37:g.151055100T>C	ENSP00000351318:p.Ser95Pro					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S95P	p.S95P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	595	+			95					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.283T>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	5.921	0.353911	0.11182	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59083	0.29;0.29	5.27	-9.26	0.00662	Dbl homology (DH) domain (1);	0.656672	0.16283	N	0.221268	T	0.06142	0.0159	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	9	.	.	.	.	2.2753	0.04101	0.4732:0.1449:0.1848:0.1971	.	95;95	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	P	95	ENSP00000356297:S95P;ENSP00000351318:S95P	.	S	+	1	0	PLEKHG1	151096793	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.063000	0.03465	-1.670000	0.01468	-1.096000	0.02151	TCA		0.587	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	38	0	0	0	1	0	12	38				
GPR133	283383	broad.mit.edu	37	12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587																																						ENST00000261654.5																			1	Substitution - Missense(1)	p.R150W(1)	endometrium(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(448-450)Cgg>Tgg		G protein-coupled receptor 133			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	91.0	93.0		448	4.2	0.3	12	dbSNP_134	93	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	150/875	131466566	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466566C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.448C>T	12.37:g.131466566C>T	ENSP00000261654:p.Arg150Trp					GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	p.R150W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	1007	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		150					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.448C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	14.51	2.558084	0.45590	2.27E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74002	-0.8;-0.8	4.23	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.082006	0.49916	D	0.000135	D	0.85225	0.5648	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.87761	0.2598	10	0.87932	D	0	.	16.0019	0.80301	0.0:1.0:0.0:0.0	.	182;150	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	150;182	ENSP00000261654:R150W;ENSP00000444425:R182W	ENSP00000261654:R150W	R	+	1	2	GPR133	130032519	0.972000	0.33761	0.270000	0.24601	0.246000	0.25737	2.616000	0.46376	2.055000	0.61198	0.558000	0.71614	CGG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		14	45	0	0	0	1	0	14	45				
TTN	7273	broad.mit.edu	37	2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	ENST00000591111.1	-	66	19088	c.18864A>G	c.(18862-18864)atA>atG	p.I6288M	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I6605M|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13064	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTTATTTTAAATG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19813-19815)atA>atG		titin							175.0	172.0	173.0					2																	179592490		1867	4099	5966	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592490T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18864A>G	2.37:g.179592490T>C	ENSP00000465570:p.Ile6288Met					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6288M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I6605M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20039	-			6288			Ig-like 47.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19815A>G		.	.	.	.	.	.	.	.	.	.	T	9.026	0.986087	0.18889	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.99	-3.55	0.04639	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75810	0.3900	M	0.91459	3.21	0.80722	D	1	P	0.46327	0.876	P	0.47044	0.535	T	0.78396	-0.2220	9	0.87932	D	0	.	8.3253	0.32153	0.3195:0.0:0.4186:0.2619	.	6288	Q8WZ42	TITIN_HUMAN	M	5361	ENSP00000343764:I5361M	ENSP00000343764:I5361M	I	-	3	3	TTN	179300735	0.450000	0.25697	0.987000	0.45799	0.998000	0.95712	-0.314000	0.08092	-0.435000	0.07264	0.533000	0.62120	ATA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	92	0	0	0	1	0	8	92				
EIF4A1	1973	broad.mit.edu	37	17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	ENST00000293831.8	+	11	1119	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_ENST00000582746.1_Silent_p.P341P|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.P347P|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000250092.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	368	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1102-1104)cGt>cAt		eukaryotic translation initiation factor 4A1							162.0	148.0	153.0					17																	7481686		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481686G>A	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1103G>A	17.37:g.7481686G>A	ENSP00000293831:p.Arg368His					SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Silent_p.P341P|EIF4A1_ENST00000577269.1_Silent_p.P347P	p.R368H	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			11	1119	+			368			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.1103G>A	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272684	0.80580	.	.	ENSG00000161960	ENST00000293831	T	0.29142	1.58	4.85	4.85	0.62838	Helicase, C-terminal (1);	0.048763	0.85682	N	0.000000	T	0.31327	0.0793	.	.	.	0.80722	D	1	P	0.50943	0.94	B	0.41202	0.35	T	0.24404	-1.0161	9	0.87932	D	0	-35.7993	15.8234	0.78676	0.0:0.0:1.0:0.0	.	368	P60842	IF4A1_HUMAN	H	368	ENSP00000293831:R368H	ENSP00000293831:R368H	R	+	2	0	EIF4A1	7422410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.386000	0.97228	2.401000	0.81631	0.563000	0.77884	CGT		0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		8	81	0	0	0	1	0	8	81				
KIF2B	84643	broad.mit.edu	37	17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	ENST00000268919.4	+	1	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	254	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(760-762)gaC>gaA		kinesin family member 2B							142.0	115.0	125.0					17																	51901156		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901156C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.762C>A	17.37:g.51901156C>A	ENSP00000268919:p.Asp254Glu						p.D254E	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	918	+			254			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.762C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337927	0.60963	.	.	ENSG00000141200	ENST00000268919	T	0.74209	-0.82	5.52	-1.73	0.08081	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000053	D	0.82848	0.5126	M	0.78637	2.42	0.31009	N	0.719472	P	0.51147	0.942	D	0.70016	0.967	T	0.82230	-0.0560	10	0.87932	D	0	.	11.9334	0.52860	0.0:0.4505:0.0:0.5495	.	254	Q8N4N8	KIF2B_HUMAN	E	254	ENSP00000268919:D254E	ENSP00000268919:D254E	D	+	3	2	KIF2B	49256155	0.716000	0.27956	0.997000	0.53966	0.862000	0.49288	-0.001000	0.12947	-0.113000	0.11958	-0.290000	0.09829	GAC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	31	1	0	0.000673444	1	0.000699346	10	31				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	14	0	0	0	1	0	3	14				
LETM1	3954	broad.mit.edu	37	4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	ENST00000302787.2	-	5	1140	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	282	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(844-846)Gcc>Acc		leucine zipper-EF-hand containing transmembrane protein 1							131.0	114.0	120.0					4																	1836604		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1836604C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.844G>A	4.37:g.1836604C>T	ENSP00000305653:p.Ala282Thr						p.A282T	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		5	1140	-			282			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.844G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.222550	0.79464	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.45276	0.9	5.2	5.2	0.72013	LETM1-like (1);	0.221262	0.41294	D	0.000910	T	0.41236	0.1150	N	0.19112	0.55	0.43010	D	0.994545	D;P;D	0.61080	0.989;0.954;0.979	P;B;P	0.52758	0.708;0.285;0.59	T	0.16100	-1.0414	10	0.20519	T	0.43	-22.7535	18.7392	0.91767	0.0:1.0:0.0:0.0	.	282;242;282	O95202-3;O95202-2;O95202	.;.;LETM1_HUMAN	T	282;242	ENSP00000305653:A282T	ENSP00000305653:A282T	A	-	1	0	LETM1	1806402	1.000000	0.71417	0.937000	0.37676	0.983000	0.72400	7.229000	0.78088	2.433000	0.82419	0.486000	0.48141	GCC		0.547	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			12	81	0	0	0	1	0	12	81				
ABCA13	154664	broad.mit.edu	37	7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C	rs200327749	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	ENST00000435803.1	+	17	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	979					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAATATTCAGAGTAGAGGCT	0.308													G|||	22	0.00439297	0.0	0.0029	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0204					ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2935-2937)caG>caC		ATP-binding cassette, sub-family A (ABC1), member 13		G	HIS/GLN	0,3594		0,0,1797	42.0	41.0	41.0		2937	1.8	0.0	7		41	17,8109		0,17,4046	yes	missense	ABCA13	NM_152701.3	24	0,17,5843	CC,CG,GG		0.2092,0.0,0.1451	possibly-damaging	979/5059	48312200	17,11703	1797	4063	5860	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312200G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2937G>C	7.37:g.48312200G>C	ENSP00000411096:p.Gln979His						p.Q979H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2961	+			979					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2937G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.814051	0.16537	0.0	0.002092	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.67	1.84	0.25277	.	0.462575	0.18236	N	0.147420	D	0.87010	0.6071	M	0.64997	1.995	0.09310	N	1	D	0.57571	0.98	P	0.50231	0.635	T	0.78945	-0.2004	10	0.87932	D	0	.	8.8443	0.35162	0.2951:0.0:0.7049:0.0	.	979	Q86UQ4	ABCAD_HUMAN	H	979	ENSP00000411096:Q979H	ENSP00000411096:Q979H	Q	+	3	2	ABCA13	48282746	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.549000	0.23329	0.124000	0.18369	-0.768000	0.03414	CAG		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	21	0	0	0	1	0	3	21				
TMEM187	8269	broad.mit.edu	37	X	153247936	153247936	+	Silent	SNP	G	G	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	ENST00000369982.4	+	2	1170	c.423G>C	c.(421-423)ctG>ctC	p.L141L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	141						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTGGCTGTTCCTCTCTC	0.677																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(421-423)ctG>ctC		transmembrane protein 187							31.0	24.0	27.0					X																	153247936		2203	4300	6503	SO:0001819	synonymous_variant	8269					integral to membrane|transport vesicle		g.chrX:153247936G>C	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.423G>C	X.37:g.153247936G>C							p.L141L	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1170	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		141					B2RC47|Q6IAV7	Silent	SNP	ENST00000369982.4	37	c.423G>C	CCDS14739.1																																																																																				0.677	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		3	10	0	0	0	1	0	3	10				
VAV2	7410	broad.mit.edu	37	9	136641200	136641200	+	Silent	SNP	C	C	T	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	ENST00000371850.3	-	24	1999	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_ENST00000371851.1_Silent_p.P646P|VAV2_ENST00000406606.3_Silent_p.P646P	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1936-1938)ccG>ccA		vav 2 guanine nucleotide exchange factor		C	,	1,4405	2.1+/-5.4	0,1,2202	65.0	62.0	63.0		1968,1938	-8.0	0.6	9	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	656/879,646/840	136641200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136641200C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1968G>A	9.37:g.136641200C>T						VAV2_ENST00000371850.3_Silent_p.P656P|VAV2_ENST00000406606.3_Silent_p.P646P	p.P646P			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	22	2263	-			656			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.1938G>A	CCDS48053.1																																																																																				0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			21	56	0	0	0	1	0	21	56				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	23	0	0	0	1	0	3	23				
PMS2	5395	broad.mit.edu	37	7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	rs17420802	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	ENST00000265849.7	-	14	2429	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S|PMS2_ENST00000382321.4_Missense_Mutation_p.N374S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	775			N -> S (in dbSNP:rs17420802).		ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAGGTCCAGTTTTTACTAGT	0.478			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2323-2325)aAc>aGc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							146.0	114.0	125.0					7																	6017340		2196	4285	6481	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017340T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2324A>G	7.37:g.6017340T>C	ENSP00000265849:p.Asn775Ser					PMS2_ENST00000382321.4_Missense_Mutation_p.N374S|PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S	p.N775S	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	14	2429	-		Ovarian(82;0.0694)	775		N -> S (in dbSNP:rs17420802).			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.2324A>G	CCDS5343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.73|18.73	3.685517|3.685517	0.68157|0.68157	.|.	.|.	ENSG00000122512|ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476|ENST00000406569	T;T;T|D	0.75821|0.85258	-0.97;-0.97;-0.97|-1.96	5.75|5.75	4.59|4.59	0.56863|0.56863	MutL, C-terminal, dimerisation (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76652|0.76652	0.4017|0.4017	L|L	0.43598|0.43598	1.365|1.365	0.53688|0.53688	D|D	0.999977|0.999977	B;P;D|B	0.89917|0.27997	0.005;0.763;1.0|0.197	B;P;D|B	0.85130|0.28465	0.006;0.722;0.997|0.09	T|T	0.67476|0.67476	-0.5661|-0.5661	10|9	0.16896|0.06365	T|T	0.51|0.9	-15.8317|-15.8317	11.1798|11.1798	0.48620|0.48620	0.0:0.0721:0.0:0.9279|0.0:0.0721:0.0:0.9279	rs17420802|rs17420802	374;775;669|562	P54278-2;P54278;C9J167|P54278-3	.;PMS2_HUMAN;.|.	S|A	775;728;374;669|562	ENSP00000265849:N775S;ENSP00000371758:N374S;ENSP00000392843:N669S|ENSP00000384308:T562A	ENSP00000265849:N775S|ENSP00000384308:T562A	N|T	-|-	2|1	0|0	PMS2|PMS2	5983866|5983866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.873000|4.873000	0.63057|0.63057	1.007000|1.007000	0.39238|0.39238	0.448000|0.448000	0.29417|0.29417	AAC|ACT		0.478	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		6	56	0	0	0	1	0	6	56				
DMD	1756	broad.mit.edu	37	X	32456488	32456488	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	ENST00000357033.4	-	29	4147	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1314					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTGAATGTCGCATCAAATT	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		13438	0.001		0.0	False		,,,				2504	0.0					ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(3940-3942)cGa>cAa		dystrophin							120.0	100.0	107.0					X																	32456488		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456488C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3941G>A	X.37:g.32456488C>T	ENSP00000354923:p.Arg1314Gln					DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	p.R1314Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			29	4147	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1314					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3941G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869676	0.33069	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.16324	2.35;2.35	5.82	1.76	0.24704	.	0.940538	0.08606	N	0.920690	T	0.11836	0.0288	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.11036	-1.0604	10	0.23891	T	0.37	.	9.6871	0.40105	0.0:0.3099:0.0:0.6901	.	1306;1314;1310	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1306;1310;1314;1314;1191	ENSP00000367948:R1310Q;ENSP00000354923:R1314Q	ENSP00000354923:R1314Q	R	-	2	0	DMD	32366409	0.996000	0.38824	0.994000	0.49952	0.981000	0.71138	0.615000	0.24329	0.323000	0.23307	-0.296000	0.09543	CGA		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	11	0	0	0	1	0	6	11				
AARS2	57505	broad.mit.edu	37	6	44269151	44269151	+	Silent	SNP	C	C	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	ENST00000244571.4	-	20	2651	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTCCACAATCAGAGGCCCCT	0.602																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2647-2649)ctG>ctC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						100.0	108.0	105.0					6																	44269151		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269151C>G	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2649G>C	6.37:g.44269151C>G						AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron	p.L883L	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2651	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		883						Silent	SNP	ENST00000244571.4	37	c.2649G>C	CCDS34464.1																																																																																				0.602	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		11	172	0	0	0	1	0	11	172				
DNM1P46	196968	broad.mit.edu	37	15	100331300	100331300	+	RNA	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr15:100331300G>A	ENST00000341853.1	-	0	2891				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCAAGTGGAGGTGTTCATCAG	0.592																																						ENST00000341853.1																			0																				117.0	115.0	116.0					15																	100331300		876	1991	2867			0							g.chr15:100331300G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331300G>A								NR_003260.1						0	2891	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.592	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		47	51	0	0	0	1	0	47	51				
SEMA3B	7869	broad.mit.edu	37	3	50313252	50313252	+	RNA	SNP	G	G	T	rs367707188		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	ENST00000418948.1	+	0	2056							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B		G	SER/ALA,SER/ALA	0,3962		0,0,1981	21.0	24.0	23.0		1821,1818	-0.3	0.3	3		23	1,8295		0,1,4147	no	missense,missense	SEMA3B	NM_004636.2,NM_001005914.1	99,99	0,1,6128	TT,TG,GG		0.0121,0.0,0.0082	benign,benign	608/750,607/749	50313252	1,12257	1981	4148	6129			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313252G>T	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313252G>T										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	2056	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	8.086	0.773405	0.16051	0.0	1.21E-4	ENSG00000012171	ENST00000316347	.	.	.	4.75	-0.286	0.12862	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.263511	0.37219	N	0.002193	T	0.12008	0.0292	.	.	.	.	.	.	B;B;B;B	0.11235	0.002;0.004;0.002;0.001	B;B;B;B	0.17433	0.012;0.018;0.012;0.004	T	0.20940	-1.0260	7	0.06891	T	0.86	.	1.1726	0.01829	0.2679:0.1507:0.4264:0.155	.	607;357;607;608	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	S	607	.	ENSP00000446262:A607S	A	+	1	0	SEMA3B	50288256	0.000000	0.05858	0.273000	0.24645	0.285000	0.27093	0.078000	0.14761	-0.420000	0.07427	-1.138000	0.01928	GCA		0.692	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		10	26	1	0	1.58986e-06	1	1.68339e-06	10	26				
EIF4G1	1981	broad.mit.edu	37	3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	ENST00000346169.2	+	18	2961	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G898E|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	897	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCTTTAGGGAATATCAAG	0.483																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2692-2694)gGg>gAg		eukaryotic translation initiation factor 4 gamma, 1							77.0	86.0	83.0					3																	184042736		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042736G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2690G>A	3.37:g.184042736G>A	ENSP00000316879:p.Gly897Glu					EIF4G1_ENST00000346169.2_Missense_Mutation_p.G897E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E	p.G898E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	3107	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		897			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2693G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086819	0.94100	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.65	5.65	0.86999	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	H	0.96239	3.79	0.80722	D	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;1.0;1.0	T	0.80544	-0.1335	10	0.87932	D	0	-20.3554	19.7311	0.96182	0.0:0.0:1.0:0.0	.	904;898;897;904	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	897;857;810;904;838;733;904;811;898;897;904;858;733;734;702;701	ENSP00000316879:G897E;ENSP00000391935:G857E;ENSP00000376320:G810E;ENSP00000371767:G904E;ENSP00000403269:G838E;ENSP00000317600:G733E;ENSP00000338020:G904E;ENSP00000407682:G811E;ENSP00000343450:G898E;ENSP00000323737:G897E;ENSP00000416255:G904E;ENSP00000395974:G858E;ENSP00000398145:G733E;ENSP00000399858:G734E;ENSP00000411826:G702E;ENSP00000404754:G701E	ENSP00000323737:G897E	G	+	2	0	EIF4G1	185525430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.665000	0.98609	2.677000	0.91161	0.561000	0.74099	GGG		0.483	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		22	52	0	0	0	1	0	22	52				
PAK3	5063	broad.mit.edu	37	X	110385328	110385328	+	Silent	SNP	T	T	C			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	ENST00000372010.1	+	6	622	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000360648.4_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000519681.1_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000372007.5_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	60					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(178-180)aaT>aaC		p21 protein (Cdc42/Rac)-activated kinase 3							146.0	144.0	145.0					X																	110385328		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385328T>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.180T>C	X.37:g.110385328T>C		TSP Lung(19;0.15)				PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N|PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000372007.4_Silent_p.N60N|PAK3_ENST00000372010.1_Silent_p.N60N|PAK3_ENST00000360648.4_Silent_p.N60N	p.N60N			O75914	PAK3_HUMAN			6	622	+			60					A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.180T>C	CCDS48153.1																																																																																				0.388	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		20	64	0	0	0	1	0	20	64				
MBNL3	55796	broad.mit.edu	37	X	131520820	131520820	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	ENST00000370853.3	-	5	869	c.791T>C	c.(790-792)cTg>cCg	p.L264P	MBNL3_ENST00000370839.3_Intron|MBNL3_ENST00000538204.1_Missense_Mutation_p.L214P|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	264					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(640-642)cTg>cCg		muscleblind-like splicing regulator 3							115.0	109.0	111.0					X																	131520820		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131520820A>G	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.791T>C	X.37:g.131520820A>G	ENSP00000359890:p.Leu264Pro					MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|MBNL3_ENST00000370853.3_Missense_Mutation_p.L264P|MBNL3_ENST00000370839.3_Intron|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P	p.L214P	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			5	706	-	Acute lymphoblastic leukemia(192;0.000127)		264					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.641T>C	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768764	0.69878	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370844;ENST00000442191;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.76	5.76	0.90799	.	0.520813	0.18874	N	0.128754	T	0.63141	0.2486	M	0.80847	2.515	0.80722	D	1	D;P;D;B	0.55385	0.971;0.928;0.971;0.36	P;P;P;B	0.58331	0.837;0.718;0.718;0.192	T	0.66492	-0.5910	10	0.54805	T	0.06	-2.7307	15.0212	0.71632	1.0:0.0:0.0:0.0	.	214;264;214;168	Q9NUK0-4;Q9NUK0;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.	P	168;214;264;264;214;168;45;168;168	ENSP00000377848:L168P;ENSP00000439618:L214P;ENSP00000359894:L264P;ENSP00000359890:L264P;ENSP00000359886:L214P;ENSP00000359881:L168P;ENSP00000412065:L45P;ENSP00000406014:L168P;ENSP00000402128:L168P	ENSP00000359881:L168P	L	-	2	0	MBNL3	131348501	1.000000	0.71417	0.620000	0.29132	0.776000	0.43924	9.228000	0.95250	1.930000	0.55929	0.486000	0.48141	CTG		0.488	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		19	42	0	0	0	1	0	19	42				
MSH2	4436	broad.mit.edu	37	2	47705575	47705575	+	Missense_Mutation	SNP	A	A	G	rs587782891		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:47705575A>G	ENST00000233146.2	+	14	2598	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	MSH2_ENST00000406134.1_Missense_Mutation_p.N792S|MSH2_ENST00000543555.1_Missense_Mutation_p.N726S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	792					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCTTGGCCAATCAGATACCA	0.393			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(2374-2376)aAt>aGt	Mismatch excision repair (MMR)	mutS homolog 2							183.0	174.0	177.0					2																	47705575		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47705575A>G	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2375A>G	2.37:g.47705575A>G	ENSP00000233146:p.Asn792Ser					MSH2_ENST00000233146.2_Missense_Mutation_p.N792S|MSH2_ENST00000543555.1_Missense_Mutation_p.N726S	p.N792S			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		14	2437	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	792					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.2375A>G	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.139509|2.139509	0.37728|0.37728	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000419559|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000413880	.|D;D;D	.|0.84873	.|-1.91;-1.91;-1.91	5.3|5.3	2.87|2.87	0.33458|0.33458	.|DNA mismatch repair protein MutS, C-terminal (2);	.|0.704071	.|0.14993	.|N	.|0.286571	T|T	0.69061|0.69061	0.3069|0.3069	N|N	0.04787|0.04787	-0.16|-0.16	0.29916|0.29916	N|N	0.823164|0.823164	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.08055	.|0.001;0.003;0.001	T|T	0.61417|0.61417	-0.7067|-0.7067	6|10	0.66056|0.45353	D|T	0.02|0.12	-6.4555|-6.4555	9.4485|9.4485	0.38712|0.38712	0.8548:0.0:0.1452:0.0|0.8548:0.0:0.1452:0.0	.|.	.|726;792;792	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	V|S	792|792;726;792;578	.|ENSP00000233146:N792S;ENSP00000442697:N726S;ENSP00000384199:N792S	ENSP00000391195:I792V|ENSP00000233146:N792S	I|N	+|+	1|2	0|0	MSH2|MSH2	47559079|47559079	0.431000|0.431000	0.25546|0.25546	0.968000|0.968000	0.41197|0.41197	0.994000|0.994000	0.84299|0.84299	1.325000|1.325000	0.33724|0.33724	0.323000|0.323000	0.23307|0.23307	0.523000|0.523000	0.50628|0.50628	ATC|AAT		0.393	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			4	54	0	0	0	1	0	4	54				
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
FAF2	23197	broad.mit.edu	37	5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A	rs540774262		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	ENST00000261942.6	+	3	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	54					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(160-162)agafs		Fas associated factor family member 2																																				SO:0001589	frameshift_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913383_175913384insA	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.162dupA	5.37:g.175913385_175913385dupA	ENSP00000261942:p.Gln54fs					FAF2_ENST00000510446.1_3'UTR	p.R54fs	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	213_214	+			54					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Frame_Shift_Ins	INS	ENST00000261942.6	37	c.160_161insA	CCDS34296.1																																																																																				0.485	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		10	53						10	53	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	55990366	55990366	+	Splice_Site	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	ENST00000244728.5	-	14	2046	c.1649delA	c.(1648-1650)aag>ag	p.K550fs	COL21A1_ENST00000370819.1_Splice_Site_p.K547fs|COL21A1_ENST00000535941.1_Splice_Site_p.K550fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	550	Collagen-like 3.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATACTTCCCTTTTTGCCATA	0.308																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.e14+1		collagen, type XXI, alpha 1							105.0	96.0	99.0					6																	55990366		1837	4082	5919	SO:0001630	splice_region_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55990366delT	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1650+1A>-	6.37:g.55990366delT						COL21A1_ENST00000370819.1_Splice_Site_p.K547_splice|COL21A1_ENST00000535941.1_Splice_Site_p.K550_splice	p.K550_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		14	2046	-	Lung NSC(77;0.0483)		550			Collagen-like 2.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	DEL	ENST00000244728.5	37	c.1650_splice	CCDS55025.1																																																																																				0.308	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Frame_Shift_Del	2	4						2	4	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	ENST00000328345.5	+	1	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	67	Poly-Gly.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(199-204)cgc>c		POU class 3 homeobox 2																																				SO:0001651	inframe_deletion	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99282949_99282951delACG	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.200_202delACG	6.37:g.99282949_99282951delACG	ENSP00000329170:p.His67_Gly68delinsArg						p.HG67del	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	370_372	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	67					Q14960|Q86V54|Q9UJL0	In_Frame_Del	DEL	ENST00000328345.5	37	c.200_202delACG	CCDS5040.1																																																																																				0.793	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			2	4						2	4	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	4						3	4	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs33991650|rs112427980|rs535957758|rs11408894	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		TGACTCTTTTTTAAAAAAACAG	0.45													?|-|A|unsure	1610	0.321486	0.2284	0.3646	5008	,	,		20477	0.4028		0.3171	False		,,,				2504	0.3374					ENST00000390453.1																			0																	859,2725		120,619,1053						4.0	0.0		dbSNP_126	26	2428,5448		380,1668,1890	no	intergenic				500,2287,2943	A1A1,A1R,RR		30.8278,23.9676,28.6824				3287,8173						0							g.chr14:22573824_22573825insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573824_22573825insA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		3	6						3	6	---	---	---	---
UBFD1	56061	broad.mit.edu	37	16	23568991	23568991	+	5'UTR	DEL	G	G	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr16:23568991delG	ENST00000395878.3	+	0	309				EARS2_ENST00000564501.1_5'UTR|EARS2_ENST00000563232.1_5'Flank|UBFD1_ENST00000567212.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000219638.4_Frame_Shift_Del_p.A200fs|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000563459.1_5'Flank	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCTGCTGCGGGGGCCAATC	0.677																																					Melanoma(22;290 1069 22358 48158)	ENST00000219638.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(598-600)gcfs		ubiquitin family domain containing 1							6.0	11.0	10.0					16																	23568991		675	1561	2236	SO:0001623	5_prime_UTR_variant	56061							g.chr16:23568991delG	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.-73G>-	16.37:g.23568991delG						UBFD1_ENST00000395878.3_5'UTR|EARS2_ENST00000564501.1_5'UTR	p.A200fs			O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	1	600	+			0					A8MW58|D3DWF2	Frame_Shift_Del	DEL	ENST00000395878.3	37	c.600delG	CCDS10613.2																																																																																				0.677	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		2	4						2	4	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	ENST00000262719.5	+	17	5287_5289	c.5053_5055delCAG	c.(5053-5055)cagdel	p.Q1689del	PHLPP1_ENST00000400316.4_In_Frame_Del_p.Q1177del			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	Poly-Gln.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3517-3519)del		PH domain and leucine rich repeat protein phosphatase 1				118,3668		38,42,1813						1.3	1.0			7	265,7225		67,131,3547	no	coding	PHLPP1	NM_194449.2		105,173,5360	A1A1,A1R,RR		3.5381,3.1167,3.3966				383,10893				SO:0001651	inframe_deletion	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646563_60646565delCAG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.5053_5055delCAG	18.37:g.60646572_60646574delCAG	ENSP00000262719:p.Gln1689del					PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	p.Q1177del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	5298_5300	+			1689			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	In_Frame_Del	DEL	ENST00000262719.5	37	c.3517_3519delCAG	CCDS45881.2																																																																																				0.586	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		2	4						2	4	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		3	5						3	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	ENST00000373344.5	-	21	5511	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1766	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAAATTTTCCTTGATAAAATT	0.313			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5296-5298)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						49.0	45.0	47.0					X																	76874425		2203	4294	6497	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874425delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5297delA	X.37:g.76874425delT	ENSP00000362441:p.Lys1766fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	p.K1766fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5511	-			1766			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5297delA	CCDS14434.1																																																																																				0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	11						6	11	---	---	---	---
