#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
LINC00969	440993	broad.mit.edu	37	3	195398271	195398271	+	lincRNA	SNP	A	A	G	rs142433257		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:195398271A>G	ENST00000445430.1	+	0	1088									long intergenic non-protein coding RNA 969																		GTGTGCAGGCACATGTGCACA	0.542																																						ENST00000445430.1																			0																																																			0							g.chr3:195398271A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195398271A>G														0	1088	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.542	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	19	0	0	0	1	0	4	19				
EGF	1950	broad.mit.edu	37	4	110932525	110932525	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:110932525G>A	ENST00000265171.5	+	24	3983	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	EGF_ENST00000503392.1_Missense_Mutation_p.E1139K|EGF_ENST00000509793.1_Missense_Mutation_p.E1138K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1180					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGGGGTGTCGAGAAGCCCCA	0.512																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3538-3540)Gag>Aag		epidermal growth factor	Sulindac(DB00605)						100.0	105.0	104.0					4																	110932525		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932525G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3538G>A	4.37:g.110932525G>A	ENSP00000265171:p.Glu1180Lys					EGF_ENST00000503392.1_Missense_Mutation_p.E1139K|EGF_ENST00000509793.1_Missense_Mutation_p.E1138K	p.E1180K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	3983	+		Hepatocellular(203;0.0893)	1180					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3538G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198707	0.22121	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.90004	-2.6;-2.51;-2.37	3.85	-0.239	0.13050	.	0.622990	0.14624	N	0.308240	T	0.78817	0.4343	L	0.29908	0.895	0.09310	N	1	B;B;B	0.27971	0.0;0.001;0.196	B;B;B	0.21708	0.001;0.002;0.036	T	0.66135	-0.5999	10	0.56958	D	0.05	.	6.0472	0.19766	0.2007:0.2858:0.5135:0.0	.	1139;1138;1180	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	K	1138;1180;1139	ENSP00000424316:E1138K;ENSP00000265171:E1180K;ENSP00000421384:E1139K	ENSP00000265171:E1180K	E	+	1	0	EGF	111151974	0.111000	0.22076	0.000000	0.03702	0.002000	0.02628	0.118000	0.15605	-0.354000	0.08212	-2.443000	0.00211	GAG		0.512	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			46	58	0	0	0	1	0	46	58				
PTX4	390667	broad.mit.edu	37	16	1536429	1536429	+	Silent	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1536429G>A	ENST00000447419.2	-	3	973	c.948C>T	c.(946-948)taC>taT	p.Y316Y	PTX4_ENST00000293922.1_Silent_p.Y311Y|PTX4_ENST00000440447.2_Missense_Mutation_p.T168M			Q96A99	PTX4_HUMAN	pentraxin 4, long	316	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTCGGTGGCGTAGGACAGGA	0.667																																						ENST00000440447.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(502-504)aCg>aTg		pentraxin 4, long							52.0	61.0	58.0					16																	1536429		2198	4300	6498	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1536429G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.948C>T	16.37:g.1536429G>A						PTX4_ENST00000447419.2_Silent_p.Y316Y|PTX4_ENST00000293922.1_Silent_p.Y311Y	p.T168M			Q96A99	PTX4_HUMAN			3	574	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.503C>T																																																																																					0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		33	30	0	0	0	1	0	33	30				
TPBG	7162	broad.mit.edu	37	6	83075811	83075811	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:83075811G>A	ENST00000369750.3	+	2	1750	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	378					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TATTTGAACCGCAAGGGGATA	0.453																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(1132-1134)cGc>cAc		trophoblast glycoprotein							91.0	92.0	92.0					6																	83075811		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075811G>A	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1133G>A	6.37:g.83075811G>A	ENSP00000358765:p.Arg378His					TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H	p.R378H			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1750	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	378					A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.1133G>A	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912929	0.92178	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.64438	-0.1;-0.1;-0.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75741	-0.3211	10	0.87932	D	0	-19.6783	20.3736	0.98901	0.0:0.0:1.0:0.0	.	378	Q13641	TPBG_HUMAN	H	378	ENSP00000441219:R378H;ENSP00000358765:R378H;ENSP00000440049:R378H	ENSP00000358765:R378H	R	+	2	0	TPBG	83132530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	CGC		0.453	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			52	45	0	0	0	1	0	52	45				
MAP7D3	79649	broad.mit.edu	37	X	135312700	135312700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:135312700G>A	ENST00000316077.9	-	10	1814	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	532					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTGGTGACTGTTTTGAAATA	0.348																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1594-1596)Cag>Tag		MAP7 domain containing 3							141.0	134.0	136.0					X																	135312700		1840	4085	5925	SO:0001587	stop_gained	79649					cytoplasm|spindle		g.chrX:135312700G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1594C>T	X.37:g.135312700G>A	ENSP00000318086:p.Gln532*					MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*	p.Q532*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			10	1814	-	Acute lymphoblastic leukemia(192;0.000127)		532					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	c.1594C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517097	0.96416	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.72	3.58	0.41010	.	0.281286	0.19145	N	0.121594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-3.803	9.5283	0.39178	0.1384:0.0:0.8616:0.0	.	.	.	.	X	497;532;514;491	.	ENSP00000318086:Q532X	Q	-	1	0	MAP7D3	135140366	0.695000	0.27747	0.015000	0.15790	0.040000	0.13550	0.988000	0.29616	0.799000	0.34018	0.556000	0.70494	CAG		0.348	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			50	63	0	0	0	1	0	50	63				
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q265Q(1)	central_nervous_system(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(793-795)caA>caG		nuclear receptor coactivator 6							62.0	52.0	55.0					20																	33345756		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345756T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.795A>G	20.37:g.33345756T>C						NCOA6_ENST00000359003.2_Silent_p.Q265Q	p.Q265Q			Q14686	NCOA6_HUMAN			8	3365	-			265			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.795A>G	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	44	0	0	0	1	0	3	44				
TRBV28	28559	broad.mit.edu	37	7	142428774	142428774	+	RNA	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr7:142428774A>G	ENST00000390400.2	+	0	154									T cell receptor beta variable 28																		TGTGTCCAGGATATGGACCAT	0.423																																						ENST00000390400.2																			0																				52.0	53.0	52.0					7																	142428774		1847	4095	5942			0							g.chr7:142428774A>G	U08314		7q34	2012-02-07			ENSG00000211753	ENSG00000211753		"""T cell receptors / TRB locus"""	12209	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV28S1, TCRBV3S1			OTTHUMG00000158900		7.37:g.142428774A>G														0	154	+									RNA	SNP	ENST00000390400.2	37																																																																																						0.423	TRBV28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352512.1	NG_001333		20	18	0	0	0	1	0	20	18				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	36	0	0	0	1	0	3	36				
MAGEB6	158809	broad.mit.edu	37	X	26212856	26212856	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:26212856A>T	ENST00000379034.1	+	2	1042	c.893A>T	c.(892-894)aAc>aTc	p.N298I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCTTCATGAACGGCAACTGT	0.532																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(892-894)aAc>aTc		melanoma antigen family B, 6							176.0	166.0	169.0					X																	26212856		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212856A>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.893A>T	X.37:g.26212856A>T	ENSP00000368320:p.Asn298Ile						p.N298I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1042	+			298			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.893A>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	a	13.28	2.188606	0.38609	.	.	ENSG00000176746	ENST00000379034	T	0.05513	3.43	3.29	2.13	0.27403	.	0.057970	0.64402	U	0.000003	T	0.18173	0.0436	M	0.84846	2.72	0.09310	N	1	P	0.49961	0.93	P	0.57960	0.83	T	0.05037	-1.0910	10	0.87932	D	0	.	4.4718	0.11715	0.8462:0.0:0.1538:0.0	.	298	Q8N7X4	MAGB6_HUMAN	I	298	ENSP00000368320:N298I	ENSP00000368320:N298I	N	+	2	0	MAGEB6	26122777	0.500000	0.26091	0.026000	0.17262	0.032000	0.12392	1.255000	0.32909	0.501000	0.28013	0.481000	0.45027	AAC		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		70	112	0	0	0	1	0	70	112				
SPTLC3	55304	broad.mit.edu	37	20	13071766	13071766	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13071766G>T	ENST00000399002.2	+	5	917	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	215					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGAGGACCTTGTGGCTAAGTT	0.428																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(643-645)Gtg>Ttg		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						164.0	166.0	166.0					20																	13071766		1929	4127	6056	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13071766G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.643G>T	20.37:g.13071766G>T	ENSP00000381968:p.Val215Leu					SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			5	917	+			215					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.643G>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103136	0.56183	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.92495	-3.05;-3.05	5.44	0.566	0.17317	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.394153	0.28273	N	0.015956	T	0.79592	0.4472	N	0.11023	0.085	0.42686	D	0.99356	B	0.23806	0.091	B	0.28991	0.097	T	0.62369	-0.6869	10	0.30854	T	0.27	-3.8492	2.8425	0.05534	0.1862:0.1332:0.543:0.1375	.	215	Q9NUV7	SPTC3_HUMAN	L	215	ENSP00000381968:V215L;ENSP00000367436:V215L	ENSP00000367436:V215L	V	+	1	0	SPTLC3	13019766	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	2.976000	0.49289	-0.124000	0.11724	-0.151000	0.13558	GTG		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		50	53	1	0	2.81731e-22	1	2.97984e-22	50	53				
PRICKLE2	166336	broad.mit.edu	37	3	64148708	64148708	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:64148708G>A	ENST00000295902.6	-	3	827	c.242C>T	c.(241-243)cCg>cTg	p.P81L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	81	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCATGTGGCGGCAGCTGGTG	0.463																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(241-243)cCg>cTg		prickle homolog 2 (Drosophila)							209.0	202.0	205.0					3																	64148708		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64148708G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.242C>T	3.37:g.64148708G>A	ENSP00000295902:p.Pro81Leu					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	p.P81L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	3	827	-		Lung NSC(201;0.136)	81			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.242C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969124	0.92855	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.96232	-3.95;-3.95	6.01	6.01	0.97437	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.98905	0.9629	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99053	1.0828	10	0.87932	D	0	-20.6318	20.5211	0.99222	0.0:0.0:1.0:0.0	.	81	Q7Z3G6	PRIC2_HUMAN	L	81	ENSP00000295902:P81L;ENSP00000419951:P81L	ENSP00000295902:P81L	P	-	2	0	PRICKLE2	64123748	1.000000	0.71417	0.955000	0.39395	0.707000	0.40811	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CCG		0.463	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		108	105	0	0	0	1	0	108	105				
USP39	10713	broad.mit.edu	37	2	85852729	85852729	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:85852729G>A	ENST00000323701.6	+	5	648	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	USP39_ENST00000409025.1_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	213					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAATTGTCCCGGGCATATGAT	0.433																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(637-639)cGg>cAg		ubiquitin specific peptidase 39							144.0	130.0	135.0					2																	85852729		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85852729G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.638G>A	2.37:g.85852729G>A	ENSP00000312981:p.Arg213Gln					USP39_ENST00000409025.1_Missense_Mutation_p.R213Q|USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q	p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			5	648	+			213					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.638G>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743818	0.96873	.	.	ENSG00000168883	ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.24151	1.87;2.11;2.41;2.41;2.15	6.16	6.16	0.99307	.	0.056391	0.64402	N	0.000001	T	0.53786	0.1818	M	0.79123	2.44	0.80722	D	1	D;P;D;D;D;P	0.89917	0.974;0.826;1.0;1.0;0.999;0.953	P;B;D;D;D;P	0.72338	0.557;0.158;0.977;0.967;0.967;0.475	T	0.45396	-0.9264	10	0.42905	T	0.14	-5.6381	18.3537	0.90348	0.0:0.0:1.0:0.0	.	110;135;213;213;213;213	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	Q	110;110;213;213;213;213;213	ENSP00000396133:R110Q;ENSP00000386572:R213Q;ENSP00000386864:R213Q;ENSP00000312981:R213Q;ENSP00000386803:R213Q	ENSP00000312981:R213Q	R	+	2	0	USP39	85706240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.152000	0.94680	2.937000	0.99478	0.650000	0.86243	CGG		0.433	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		14	91	0	0	0	1	0	14	91				
NOTCH1	4851	broad.mit.edu	37	9	139401808	139401808	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:139401808A>T	ENST00000277541.6	-	22	3667	c.3592T>A	c.(3592-3594)Tgc>Agc	p.C1198S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1198	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTCGAGGCAGGTGCCCCCG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3592-3594)Tgc>Agc		notch 1							27.0	35.0	32.0					9																	139401808		2024	4162	6186	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401808A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3592T>A	9.37:g.139401808A>T	ENSP00000277541:p.Cys1198Ser	HNSCC(8;0.001)					p.C1198S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3667	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1198			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3592T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028053	0.93518	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.43	5.43	0.79202	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99995	1.5212	10	0.87932	D	0	.	14.636	0.68689	1.0:0.0:0.0:0.0	.	1198	P46531	NOTC1_HUMAN	S	1198	ENSP00000277541:C1198S	ENSP00000277541:C1198S	C	-	1	0	NOTCH1	138521629	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.847000	0.92166	2.048000	0.60808	0.533000	0.62120	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	2	0	0	0	1	0	14	2				
IL13RA1	3597	broad.mit.edu	37	X	117895252	117895252	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:117895252C>T	ENST00000371666.3	+	6	895	c.828C>T	c.(826-828)taC>taT	p.Y276Y	IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	276	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATGTTTTCTACGTAAGGTTTT	0.289																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.e6+1		interleukin 13 receptor, alpha 1							93.0	94.0	94.0					X																	117895252		2203	4299	6502	SO:0001630	splice_region_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117895252C>T	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.828+1C>T	X.37:g.117895252C>T						IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	p.Y276_splice	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			6	895	+			276					O95646|Q5JSL4|Q99656|Q9UDY5	Splice_Site	SNP	ENST00000371666.3	37	c.828_splice	CCDS14573.1																																																																																				0.289	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	Silent	61	97	0	0	0	1	0	61	97				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			43	35	0	0	0	1	0	43	35				
CACNA1H	8912	broad.mit.edu	37	16	1270872	1270872	+	Missense_Mutation	SNP	G	G	A	rs370867825		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1270872G>A	ENST00000348261.5	+	35	7188	c.6940G>A	c.(6940-6942)Gtc>Atc	p.V2314I	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2314					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCCATGCCCGTCGGTGACCC	0.642																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6940-6942)Gtc>Atc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)		ILE/VAL,ILE/VAL	2,3676		0,2,1837	65.0	72.0	70.0		6940,6922	-3.1	0.0	16		70	0,8170		0,0,4085	no	missense,missense	CACNA1H	NM_021098.2,NM_001005407.1	29,29	0,2,5922	AA,AG,GG		0.0,0.0544,0.0169	benign,benign	2314/2354,2308/2348	1270872	2,11846	1839	4085	5924	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270872G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6940G>A	16.37:g.1270872G>A	ENSP00000334198:p.Val2314Ile					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I	p.V2314I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	7188	+		Hepatocellular(780;0.00369)	2314					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6940G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	3.411	-0.120263	0.06838	5.44E-4	0.0	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96334	-3.98;-3.93	3.85	-3.11	0.05299	.	3.892820	0.00691	N	0.000737	D	0.88555	0.6468	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20988	0.05;0.05;0.05;0.02;0.05	B;B;B;B;B	0.12156	0.005;0.007;0.007;0.001;0.005	T	0.79543	-0.1760	10	0.54805	T	0.06	.	0.3993	0.00423	0.2879:0.2888:0.1617:0.2616	.	1060;1038;1044;2308;2314	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	I	2314;2308	ENSP00000334198:V2314I;ENSP00000351401:V2308I	ENSP00000334198:V2314I	V	+	1	0	CACNA1H	1210873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.355000	0.02612	-0.971000	0.03564	-1.758000	0.00672	GTC		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		38	47	0	0	0	1	0	38	47				
ICOSLG	23308	broad.mit.edu	37	21	45651187	45651187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr21:45651187G>A	ENST00000407780.3	-	5	965	c.838C>T	c.(838-840)Cga>Tga	p.R280*	ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	280					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGAGGCATCGGTCCCTGCAC	0.562																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(838-840)Cga>Tga		inducible T-cell co-stimulator ligand							76.0	82.0	80.0					21																	45651187		2143	4244	6387	SO:0001587	stop_gained	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45651187G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.838C>T	21.37:g.45651187G>A	ENSP00000384432:p.Arg280*					ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*	p.R280*			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	5	965	-			280					A8MUZ1|Q9HD18|Q9NRQ1	Nonsense_Mutation	SNP	ENST00000407780.3	37	c.838C>T	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144880	0.57044	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	.	.	.	2.28	-0.344	0.12628	.	0.351848	0.23560	N	0.046864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3203	6.6207	0.22802	0.0:0.0:0.5261:0.4739	.	.	.	.	X	280;280;280;163	.	ENSP00000339477:R280X	R	-	1	2	ICOSLG	44475615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.065000	0.13021	-0.266000	0.10368	CGA		0.562	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		21	26	0	0	0	1	0	21	26				
CDH18	1016	broad.mit.edu	37	5	19520806	19520806	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr5:19520806T>C	ENST00000507958.1	-	12	2462	c.1472A>G	c.(1471-1473)gAa>gGa	p.E491G	CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000274170.4_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G|CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G			Q13634	CAD18_HUMAN	cadherin 18, type 2	491	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATATCATATTCCCTGGCAAG	0.388																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1471-1473)gAa>gGa		cadherin 18, type 2							118.0	120.0	119.0					5																	19520806		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520806T>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1472A>G	5.37:g.19520806T>C	ENSP00000425093:p.Glu491Gly					CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G|CDH18_ENST00000274170.4_Missense_Mutation_p.E491G	p.E491G			Q13634	CAD18_HUMAN			12	2462	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		491			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1472A>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.976078	0.34848	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.22	5.22	0.72569	Cadherin (2);Cadherin-like (1);	0.149864	0.64402	D	0.000016	T	0.55449	0.1921	M	0.62723	1.935	0.51482	D	0.999928	B;B	0.27380	0.177;0.136	B;B	0.29524	0.103;0.097	T	0.53322	-0.8455	9	.	.	.	.	14.212	0.65771	0.0:0.0:0.0:1.0	.	491;491	B4DHG6;Q13634	.;CAD18_HUMAN	G	491	ENSP00000371710:E491G;ENSP00000425093:E491G;ENSP00000274170:E491G;ENSP00000424931:E491G;ENSP00000422138:E491G;ENSP00000425854:E491G	.	E	-	2	0	CDH18	19556563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.616000	0.74205	2.102000	0.63906	0.528000	0.53228	GAA		0.388	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		46	49	0	0	0	1	0	46	49				
A2ML1	144568	broad.mit.edu	37	12	9020559	9020559	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:9020559C>T	ENST00000299698.7	+	30	4019	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATACAGTCAGTTAACAGA	0.488																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3838-3840)tCa>tTa		alpha-2-macroglobulin-like 1							123.0	117.0	119.0					12																	9020559		1982	4153	6135	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020559C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3839C>T	12.37:g.9020559C>T	ENSP00000299698:p.Ser1280Leu					A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	p.S1280L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			30	4019	+			1124						Missense_Mutation	SNP	ENST00000299698.7	37	c.3839C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	0.825	-0.747146	0.03065	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33216	1.42;1.54;2.09	3.54	2.64	0.31445	.	0.687401	0.12733	N	0.443685	T	0.25568	0.0622	L	0.54323	1.7	0.09310	N	1	B	0.14438	0.01	B	0.20184	0.028	T	0.19778	-1.0295	10	0.30854	T	0.27	.	4.5806	0.12257	0.3201:0.5672:0.0:0.1127	.	1280	A8K2U0	A2ML1_HUMAN	L	1280;1280;830;789	ENSP00000299698:S1280L;ENSP00000443174:S830L;ENSP00000438292:S789L	ENSP00000299698:S1280L	S	+	2	0	A2ML1	8911826	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.050000	0.11904	1.050000	0.40346	0.561000	0.74099	TCA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		33	42	0	0	0	1	0	33	42				
IL18RAP	8807	broad.mit.edu	37	2	103063658	103063658	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:103063658A>G	ENST00000264260.2	+	10	1790	c.1201A>G	c.(1201-1203)Acg>Gcg	p.T401A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	401					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGGATCAGACGCTTGGGGG	0.557																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1201-1203)Acg>Gcg		interleukin 18 receptor accessory protein							131.0	134.0	133.0					2																	103063658		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063658A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1201A>G	2.37:g.103063658A>G	ENSP00000264260:p.Thr401Ala					IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	p.T401A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1790	+			401					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1201A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255234	0.59321	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.21031	2.03;2.03	6.05	6.05	0.98169	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.000000	0.64402	D	0.000001	T	0.35566	0.0936	M	0.82056	2.57	0.35550	D	0.803764	D	0.56521	0.976	P	0.47206	0.541	T	0.54549	-0.8277	10	0.48119	T	0.1	.	15.1642	0.72807	1.0:0.0:0.0:0.0	.	401	O95256	I18RA_HUMAN	A	401;259	ENSP00000264260:T401A;ENSP00000387201:T259A	ENSP00000264260:T401A	T	+	1	0	IL18RAP	102430090	1.000000	0.71417	0.967000	0.41034	0.260000	0.26232	6.049000	0.71053	2.320000	0.78422	0.528000	0.53228	ACG		0.557	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		56	90	0	0	0	1	0	56	90				
UHRF1BP1	54887	broad.mit.edu	37	6	34825143	34825143	+	Missense_Mutation	SNP	C	C	T	rs200888244		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:34825143C>T	ENST00000192788.5	+	12	1640	c.1469C>T	c.(1468-1470)aCa>aTa	p.T490I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	490							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGCCATCTACACTCCTTTCC	0.438																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1468-1470)aCa>aTa		UHRF1 binding protein 1		C	ILE/THR	5,3757		0,5,1876	116.0	110.0	112.0		1469	5.3	0.9	6		112	0,8234		0,0,4117	yes	missense	UHRF1BP1	NM_017754.3	89	0,5,5993	TT,TC,CC		0.0,0.1329,0.0417	probably-damaging	490/1441	34825143	5,11991	1881	4117	5998	SO:0001583	missense	54887							g.chr6:34825143C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1469C>T	6.37:g.34825143C>T	ENSP00000192788:p.Thr490Ile					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			12	1640	+			490					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1469C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439453	0.83885	0.001329	0.0	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.01;3.01	5.28	5.28	0.74379	.	0.120764	0.56097	D	0.000023	T	0.21590	0.0520	L	0.58101	1.795	0.44587	D	0.997551	D	0.69078	0.997	D	0.63033	0.91	T	0.00403	-1.1761	10	0.72032	D	0.01	-6.609	19.1041	0.93285	0.0:1.0:0.0:0.0	.	490	Q6BDS2	URFB1_HUMAN	I	490	ENSP00000192788:T490I;ENSP00000400628:T490I	ENSP00000192788:T490I	T	+	2	0	UHRF1BP1	34933121	0.862000	0.29867	0.939000	0.37840	0.959000	0.62525	5.762000	0.68809	2.758000	0.94735	0.563000	0.77884	ACA		0.438	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		19	75	0	0	0	1	0	19	75				
CELF3	11189	broad.mit.edu	37	1	151677561	151677561	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:151677561T>C	ENST00000290583.4	-	12	2147	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CELF3_ENST00000290585.4_Missense_Mutation_p.K402E|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	452	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGCTGGACTTTGAGGCGCTTC	0.627																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1354-1356)Aaa>Gaa		CUGBP, Elav-like family member 3							67.0	65.0	66.0					1																	151677561		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151677561T>C	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1354A>G	1.37:g.151677561T>C	ENSP00000290583:p.Lys452Glu					CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.K402E	p.K452E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			12	2147	-			452			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1354A>G	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	31	5.069569	0.93950	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706	T;T;T	0.36878	3.33;3.33;1.23	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	0.988;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.966;1.0;0.999;0.996;0.991	T	0.70554	-0.4840	10	0.87932	D	0	-19.1882	12.9024	0.58133	0.0:0.0:0.0:1.0	.	247;402;451;452;451	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	E	402;452;247	ENSP00000290585:K402E;ENSP00000290583:K452E;ENSP00000376470:K247E	ENSP00000290583:K452E	K	-	1	0	CELF3	149944185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.147000	0.66899	0.533000	0.62120	AAA		0.627	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		22	29	0	0	0	1	0	22	29				
SHANK2	22941	broad.mit.edu	37	11	70507707	70507707	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr11:70507707C>T	ENST00000423696.2	-	6	829	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A645T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T|SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	265	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTACCTTTGGCCCCTCGAAGC	0.502																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1933-1935)Gcc>Acc		SH3 and multiple ankyrin repeat domains 2							152.0	132.0	139.0					11																	70507707		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507707C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.793G>A	11.37:g.70507707C>T	ENSP00000394536:p.Ala265Thr					SHANK2_ENST00000423696.2_Missense_Mutation_p.A265T|SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T	p.A645T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	1932	-			265					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.1933G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.193142|5.193142	0.94960|0.94960	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000412252	T;T;T;T;T;T;T;T|T	0.27104|0.32515	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69|1.45	4.76|4.76	4.76|4.76	0.60689|0.60689	PDZ/DHR/GLGF (4);|.	0.189156|.	0.44902|.	D|.	0.000403|.	T|T	0.44603|0.44603	0.1301|0.1301	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.994|.	T|T	0.44877|0.44877	-0.9299|-0.9299	10|7	0.72032|0.87932	D|D	0.01|0	.|.	17.7826|17.7826	0.88528|0.88528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	56;265;644;56|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.	.;SHAN2_HUMAN;.;.|.	T|D	56;55;645;265;279;275;55;56;56|54	ENSP00000399423:A56T;ENSP00000386491:A55T;ENSP00000345193:A645T;ENSP00000394536:A265T;ENSP00000294018:A275T;ENSP00000387324:A55T;ENSP00000394939:A56T;ENSP00000349694:A56T|ENSP00000414876:G54D	ENSP00000294018:A275T|ENSP00000414876:G54D	A|G	-|-	1|2	0|0	SHANK2|SHANK2	70185355|70185355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.049000|7.049000	0.76613|0.76613	2.189000|2.189000	0.69895|0.69895	0.491000|0.491000	0.48974|0.48974	GCC|GGC		0.502	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	111	0	0	0	1	0	4	111				
GOPC	57120	broad.mit.edu	37	6	117892068	117892068	+	Silent	SNP	A	A	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:117892068A>T	ENST00000368498.2	-	6	942	c.867T>A	c.(865-867)gtT>gtA	p.V289V	GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000535237.1_Silent_p.V289V|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	289	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TAAGGAGGAGAACTTTTCTAA	0.343			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(865-867)gtT>gtA		golgi-associated PDZ and coiled-coil motif containing							141.0	138.0	139.0					6																	117892068		2203	4300	6503	SO:0001819	synonymous_variant	57120							g.chr6:117892068A>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.867T>A	6.37:g.117892068A>T						GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000368498.2_Silent_p.V289V|GOPC_ENST00000467125.1_5'UTR	p.V289V						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	6	1096	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.867T>A	CCDS5117.1																																																																																				0.343	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		11	56	0	0	0	1	0	11	56				
SYAP1	94056	broad.mit.edu	37	X	16773205	16773205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:16773205T>A	ENST00000380155.3	+	6	806	c.713T>A	c.(712-714)tTg>tAg	p.L238*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	238						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAGCAAGATTTGCCGCTGGCA	0.517																																						ENST00000380155.3																			0				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10						c.(712-714)tTg>tAg		synapse associated protein 1							65.0	61.0	62.0					X																	16773205		2203	4300	6503	SO:0001587	stop_gained	94056							g.chrX:16773205T>A	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.713T>A	X.37:g.16773205T>A	ENSP00000369500:p.Leu238*						p.L238*	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN			6	806	+	Hepatocellular(33;0.0997)		238					Q68CP1|Q96C60|Q96JQ6|Q96T20	Nonsense_Mutation	SNP	ENST00000380155.3	37	c.713T>A	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598087	0.66332	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.11	1.01	0.19927	.	1.266050	0.05152	N	0.496213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-1.4608	1.3719	0.02213	0.1424:0.2938:0.1438:0.4199	.	.	.	.	X	238	.	ENSP00000369500:L238X	L	+	2	0	SYAP1	16683126	0.013000	0.17824	0.011000	0.14972	0.002000	0.02628	-0.159000	0.10056	0.177000	0.19895	-0.456000	0.05471	TTG		0.517	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		32	58	0	0	0	1	0	32	58				
PTCHD3	374308	broad.mit.edu	37	10	27688135	27688135	+	Silent	SNP	A	A	G	rs567074756		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr10:27688135A>G	ENST00000438700.3	-	4	1509	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	464	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCCAGGCAGAAATCATGA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		12844	0.0		0.001	False		,,,				2504	0.0					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1390-1392)tcT>tcC		patched domain containing 3							67.0	59.0	62.0					10																	27688135		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688135A>G	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1392T>C	10.37:g.27688135A>G							p.S464S	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1509	-			464			SSD.		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1392T>C	CCDS31173.1																																																																																				0.368	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		24	42	0	0	0	1	0	24	42				
IRF8	3394	broad.mit.edu	37	16	85942758	85942758	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:85942758G>T	ENST00000268638.5	+	3	759	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	113					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TTACCGAATTGTTCCTGAGGA	0.493																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(337-339)Gtt>Ttt		interferon regulatory factor 8							54.0	53.0	54.0					16																	85942758		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942758G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.337G>T	16.37:g.85942758G>T	ENSP00000268638:p.Val113Phe					IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	759	+		Prostate(104;0.0771)	113					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.337G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731692	0.69189	.	.	ENSG00000140968	ENST00000268638	D	0.97959	-4.63	5.27	4.31	0.51392	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.058883	0.64402	D	0.000002	D	0.98175	0.9397	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	D	0.98737	1.0715	10	0.66056	D	0.02	-29.1116	13.7247	0.62750	0.0746:0.0:0.9254:0.0	.	113;113	B2R8V7;Q02556	.;IRF8_HUMAN	F	113	ENSP00000268638:V113F	ENSP00000268638:V113F	V	+	1	0	IRF8	84500259	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	6.298000	0.72763	1.228000	0.43614	0.555000	0.69702	GTT		0.493	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		20	27	1	0	9.95505e-16	1	1.01394e-15	20	27				
LRRK1	79705	broad.mit.edu	37	15	101589864	101589864	+	Silent	SNP	C	C	T	rs371351101		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr15:101589864C>T	ENST00000388948.3	+	23	3674	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	LRRK1_ENST00000284395.5_Silent_p.D1102D|RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTTCCGACGTGAACTGGA	0.507																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3304-3306)gaC>gaT		leucine-rich repeat kinase 1		C		2,3756		0,2,1877	90.0	93.0	92.0		3315	-10.3	0.0	15		92	0,8226		0,0,4113	no	coding-synonymous	LRRK1	NM_024652.3		0,2,5990	TT,TC,CC		0.0,0.0532,0.0167		1105/2016	101589864	2,11982	1879	4113	5992	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101589864C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3315C>T	15.37:g.101589864C>T						LRRK1_ENST00000388948.3_Silent_p.D1105D	p.D1102D			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		24	3706	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1105						Silent	SNP	ENST00000388948.3	37	c.3306C>T	CCDS42086.1																																																																																				0.507	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		27	26	0	0	0	1	0	27	26				
WNK3	65267	broad.mit.edu	37	X	54275530	54275530	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:54275530G>T	ENST00000375159.2	-	16	3250	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	WNK3_ENST00000354646.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1084					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGGGTAGTTGGTTCAAGGCC	0.433																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3250-3252)cCa>cAa		WNK lysine deficient protein kinase 3							97.0	86.0	90.0					X																	54275530		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275530G>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3251C>A	X.37:g.54275530G>T	ENSP00000364301:p.Pro1084Gln					WNK3_ENST00000375159.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q	p.P1084Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3689	-			1084					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3251C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	4.931	0.172931	0.09391	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.25579	1.79;1.79;1.79	5.02	2.13	0.27403	.	0.899723	0.09489	N	0.795238	T	0.21267	0.0512	L	0.27053	0.805	0.09310	N	1	P;P	0.42203	0.773;0.664	P;B	0.45071	0.468;0.278	T	0.18398	-1.0338	10	0.87932	D	0	1.9947	4.494	0.11828	0.0877:0.4066:0.3631:0.1426	.	1084;1084	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1084	ENSP00000364312:P1084Q;ENSP00000346667:P1084Q;ENSP00000364301:P1084Q	ENSP00000346667:P1084Q	P	-	2	0	WNK3	54292255	0.976000	0.34144	0.007000	0.13788	0.299000	0.27559	1.724000	0.38064	0.010000	0.14839	-0.444000	0.05651	CCA		0.433	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		33	39	1	0	3.80469e-20	1	3.94827e-20	33	39				
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	C	T	rs377766422		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	185						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(553-555)gaC>gaT		isthmin 1, angiogenesis inhibitor		C		0,3820		0,0,1910	61.0	70.0	67.0		555	-12.1	0.4	20		67	1,8231		0,1,4115	no	coding-synonymous	ISM1	NM_080826.1		0,1,6025	TT,TC,CC		0.0121,0.0,0.0083		185/465	13260457	1,12051	1910	4116	6026	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13260457C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.555C>T	20.37:g.13260457C>T						TASP1_ENST00000539805.1_Intron	p.D185D	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	561	+			185					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.555C>T	CCDS46579.1																																																																																				0.597	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			15	33	0	0	0	1	0	15	33				
PRICKLE1	144165	broad.mit.edu	37	12	42860025	42860025	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:42860025T>C	ENST00000455697.1	-	6	1031	c.746A>G	c.(745-747)gAg>gGg	p.E249G	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	249	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCACAGTACTCCGCATAGAG	0.512																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(745-747)gAg>gGg		prickle homolog 1 (Drosophila)							76.0	74.0	75.0					12																	42860025		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860025T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.746A>G	12.37:g.42860025T>C	ENSP00000401060:p.Glu249Gly					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G	p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	1031	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		249			LIM zinc-binding 2.|LIM zinc-binding 3.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.746A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.014186	0.93404	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.045300	0.85682	D	0.000000	D	0.93716	0.7992	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94645	0.7834	10	0.72032	D	0.01	0.651	15.3353	0.74247	0.0:0.0:0.0:1.0	.	249	Q96MT3	PRIC1_HUMAN	G	249	ENSP00000401060:E249G;ENSP00000398947:E249G;ENSP00000448359:E249G;ENSP00000345064:E249G;ENSP00000449819:E249G	ENSP00000345064:E249G	E	-	2	0	PRICKLE1	41146292	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	GAG		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			27	3	0	0	0	1	0	27	3				
CCDC150	284992	broad.mit.edu	37	2	197521413	197521413	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:197521413G>A	ENST00000389175.4	+	3	368	c.233G>A	c.(232-234)aGt>aAt	p.S78N	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	78										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGTCATTAGTCCTATCCAA	0.388																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(232-234)aGt>aAt		coiled-coil domain containing 150							77.0	73.0	74.0					2																	197521413		1817	4082	5899	SO:0001583	missense	284992							g.chr2:197521413G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.233G>A	2.37:g.197521413G>A	ENSP00000373827:p.Ser78Asn					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	p.S78N	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			3	368	+			78					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.233G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641576	0.14451	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.32753	1.44	5.03	1.84	0.25277	.	0.934107	0.08920	N	0.874598	T	0.28896	0.0717	L	0.59436	1.845	0.09310	N	1	B;B	0.33238	0.275;0.403	B;B	0.33890	0.172;0.12	T	0.23297	-1.0192	10	0.27785	T	0.31	-0.5569	7.592	0.28027	0.0967:0.3207:0.5825:0.0	.	78;78	Q8NCX0;F5H6M2	CC150_HUMAN;.	N	78	ENSP00000373827:S78N	ENSP00000373827:S78N	S	+	2	0	CCDC150	197229658	0.163000	0.22920	0.006000	0.13384	0.061000	0.15899	1.561000	0.36342	0.640000	0.30582	0.655000	0.94253	AGT		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		14	18	0	0	0	1	0	14	18				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	70	0	0	0	1	0	3	70				
SPATA31D1	389763	broad.mit.edu	37	9	84609657	84609657	+	Silent	SNP	T	T	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:84609657T>C	ENST00000344803.2	+	4	4319	c.4272T>C	c.(4270-4272)gaT>gaC	p.D1424D		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1424					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGGATAGATATCACCTGTC	0.517																																						ENST00000344803.2																			0											c.(4270-4272)gaT>gaC		SPATA31 subfamily D, member 1							39.0	38.0	38.0					9																	84609657		1892	4120	6012	SO:0001819	synonymous_variant	389763							g.chr9:84609657T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4272T>C	9.37:g.84609657T>C							p.D1424D	NM_001001670.2	NP_001001670.1					4	4319	+									Silent	SNP	ENST00000344803.2	37	c.4272T>C	CCDS47986.1																																																																																				0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		13	19	0	0	0	1	0	13	19				
OR10AD1	121275	broad.mit.edu	37	12	48596567	48596567	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:48596567C>T	ENST00000310248.2	-	1	603	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTTGTCTCTGCGGAAGGGCTC	0.502																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(508-510)cGc>cAc		olfactory receptor, family 10, subfamily AD, member 1							50.0	42.0	45.0					12																	48596567		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596567C>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.509G>A	12.37:g.48596567C>T	ENSP00000308689:p.Arg170His						p.R170H	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	603	-			170					B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.509G>A	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744279	0.30865	.	.	ENSG00000172640	ENST00000310248	T	0.00091	8.74	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000710	T	0.00109	0.0003	N	0.20574	0.59	0.26846	N	0.968266	P	0.35033	0.481	B	0.17433	0.018	T	0.37103	-0.9720	10	0.72032	D	0.01	-10.0205	11.2157	0.48825	0.0:0.9099:0.0:0.0901	.	170	Q8NGE0	O10AD_HUMAN	H	170	ENSP00000308689:R170H	ENSP00000308689:R170H	R	-	2	0	OR10AD1	46882834	1.000000	0.71417	0.887000	0.34795	0.146000	0.21551	5.675000	0.68123	1.407000	0.46875	0.561000	0.74099	CGC		0.502	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			7	18	0	0	0	1	0	7	18				
TG	7038	broad.mit.edu	37	8	133911126	133911126	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr8:133911126A>G	ENST00000220616.4	+	14	3341	c.3301A>G	c.(3301-3303)Aaa>Gaa	p.K1101E	TG_ENST00000377869.1_Missense_Mutation_p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1101	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCATCTCCAAAAGACCTGTT	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3301-3303)Aaa>Gaa		thyroglobulin							68.0	57.0	61.0					8																	133911126		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133911126A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3301A>G	8.37:g.133911126A>G	ENSP00000220616:p.Lys1101Glu					TG_ENST00000377869.1_Missense_Mutation_p.K1101E	p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	14	3341	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1101			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3301A>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.503|5.503	0.277803|0.277803	0.10403|0.10403	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313	T;T|.	0.62639|.	0.01;0.01|.	5.74|5.74	-2.24|-2.24	0.06909|0.06909	Thyroglobulin type-1 (4);|.	1.068030|1.068030	0.07151|0.07151	N|N	0.849056|0.849056	T|T	0.34978|0.34978	0.0916|0.0916	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.41556|0.41556	-0.9502|-0.9502	10|6	0.06236|.	T|.	0.91|.	.|.	13.0643|13.0643	0.59024|0.59024	0.3411:0.0:0.6589:0.0|0.3411:0.0:0.6589:0.0	.|.	1101|.	P01266|.	THYG_HUMAN|.	E|R	1101|8	ENSP00000367100:K1101E;ENSP00000220616:K1101E|.	ENSP00000220616:K1101E|.	K|K	+|+	1|2	0|0	TG|TG	133980308|133980308	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.911000|0.911000	0.54048|0.54048	-0.232000|-0.232000	0.09055|0.09055	-0.315000|-0.315000	0.08703|0.08703	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	14	0	0	0	1	0	8	14				
FUBP1	8880	broad.mit.edu	37	1	78428491	78428491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:78428491delT	ENST00000370768.2	-	14	1389	c.1308delA	c.(1306-1308)atafs	p.I436fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I436fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	436	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGCATAGTCTATCTGTTGTG	0.373			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1306-1308)atfs		far upstream element (FUSE) binding protein 1							117.0	110.0	113.0					1																	78428491		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428491delT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1308delA	1.37:g.78428491delT	ENSP00000359804:p.Ile436fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I436fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs	p.I436fs			Q96AE4	FUBP1_HUMAN			14	1395	-			436			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1308delA	CCDS683.1																																																																																				0.373	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		45	4						45	4	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24524110	24524111	+	Splice_Site	INS	-	-	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:24524110_24524111insA	ENST00000355123.4	-	11	1439		c.e11-2		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTCCTCTAAAAAAATCAA	0.366																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e11-2		intersectin 2																																				SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24524110_24524111insA	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.996-2->T	2.37:g.24524117_24524117dupA						ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site		NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			11	1439	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	INS	ENST00000355123.4	37		CCDS1710.2																																																																																				0.366	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Intron	25	44						25	44	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131984464	131984465	+	Frame_Shift_Ins	INS	-	-	A	rs371664982	byFrequency	TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:131984464_131984465insA	ENST00000356920.5	+	4	973_974	c.879_880insA	c.(880-882)aaafs	p.K294fs	RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.K304fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	294					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTTTAATCAAGAAAAAAGCGAA	0.342																																						ENST00000356920.5																			0											c.(877-882)aaaaaafs		POTE ankyrin domain family, member E																																				SO:0001589	frameshift_variant	445582						ATP binding	g.chr2:131984464_131984465insA	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.885dupA	2.37:g.131984470_131984470dupA	ENSP00000439189:p.Lys294fs					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.KK303fs|PLEKHB2_ENST00000404460.1_Intron	p.KK293fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			4	973_974	+			293					Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	c.879_880insA	CCDS46414.1																																																																																				0.342	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		37	116						37	116	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104061011	104061013	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:104061011_104061013delTCC	ENST00000265148.3	-	38	6226_6228	c.6137_6139delGGA	c.(6136-6141)aggata>ata	p.R2046del	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2046					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATTCTTTTATCCTCCTTAGCTC	0.36																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6136-6141)ata>a		centromere protein E, 312kDa																																				SO:0001651	inframe_deletion	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104061011_104061013delTCC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6137_6139delGGA	4.37:g.104061014_104061016delTCC	ENSP00000265148:p.Arg2046del					CENPE_ENST00000380026.3_Intron	p.RI2046del	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6226_6228	-			2046					A6NKY9|A8K2U7|Q4LE75	In_Frame_Del	DEL	ENST00000265148.3	37	c.6137_6139delGGA	CCDS34042.1																																																																																				0.360	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	49						30	49	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	lincRNA	INS	-	-	TTT	rs145057012|rs10622810|rs60637656		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:105918246_105918247insTTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317																																						ENST00000506386.1																			0																																																			0							g.chr4:105918246_105918247insTTT																													4.37:g.105918253_105918255dupTTT														0	71	+									RNA	INS	ENST00000506386.1	37																																																																																						0.317	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			3	2						3	2	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32367130	32367131	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr13:32367130_32367131insA	ENST00000298386.2	+	16	1762_1763	c.1691_1692insA	c.(1690-1695)ggaaacfs	p.N565fs	RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.N541fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	565					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATTATTTTGGAAACTTTTATG	0.366																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1690-1692)gaafs		relaxin/insulin-like family peptide receptor 2																																				SO:0001589	frameshift_variant	122042					integral to membrane|plasma membrane		g.chr13:32367130_32367131insA	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1694dupA	13.37:g.32367133_32367133dupA	ENSP00000298386:p.Asn565fs					RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.E540fs	p.E564fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1762_1763	+		Lung SC(185;0.0262)	564					B1ALE9|Q3KU23	Frame_Shift_Ins	INS	ENST00000298386.2	37	c.1691_1692insA	CCDS9342.1																																																																																				0.366	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		32	50						32	50	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293153	102293155	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr15:102293153_102293155delCTC	ENST00000561463.1	+	0	1199_1201									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.571																																						ENST00000561463.1																			0																																																			0							g.chr15:102293153_102293155delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293153_102293155delCTC														0	1199_1201	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.571	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28834658	28834659	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:28834658_28834659insC	ENST00000336783.4	+	1	245_246	c.78_79insC	c.(79-81)cccfs	p.P27fs	ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P27fs|RP11-1348G14.5_ENST00000568183.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P27fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	27	Pro-rich.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCGTCGGCCCCCCGGGGG	0.762																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(76-81)cgccccfs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28834658_28834659insC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.84dupC	16.37:g.28834664_28834664dupC	ENSP00000338718:p.Pro27fs					ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.RP26fs	p.RP26fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			1	245_246	+			26			Pro-rich.		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.78_79insC	CCDS10641.1																																																																																				0.762	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		2	4						2	4	---	---	---	---
HSD11B1L	374875	broad.mit.edu	37	19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr19:5687962delG	ENST00000423665.2	+	8	954	c.704delG	c.(703-705)cggfs	p.R235fs	HSD11B1L_ENST00000301382.4_3'UTR|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000581521.1_3'UTR|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000347512.3_5'Flank|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000577917.1_Frame_Shift_Del_p.R154fs|RPL36_ENST00000579446.1_5'Flank|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000583928.1_3'UTR|HSD11B1L_ENST00000342970.2_3'UTR|HSD11B1L_ENST00000581893.1_3'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_3'UTR|RPL36_ENST00000394580.2_5'Flank	NM_198533.2	NP_940935.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	235						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)										CCTGAGCACCGGGGGGTGCCC	0.682																																						ENST00000577917.1																			0											c.(460-462)cgfs		hydroxysteroid (11-beta) dehydrogenase 1-like							11.0	15.0	14.0					19																	5687962		1996	4100	6096	SO:0001589	frameshift_variant	374875					extracellular region	binding|oxidoreductase activity	g.chr19:5687962delG	AY268353	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	19p13.3	2011-09-20				ENSG00000167733	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30419	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase 10"", ""short chain dehydrogenase/reductase family 26C, member 2"""					12477932	Standard	NM_001267868		Approved	SCDR10, SDR26C2	uc010dug.4	Q7Z5J1		ENST00000423665.2:c.704delG	19.37:g.5687962delG	ENSP00000407154:p.Arg235fs					HSD11B1L_ENST00000342970.2_3'UTR|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000423665.2_Frame_Shift_Del_p.R235fs|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_3'UTR|HSD11B1L_ENST00000581773.1_3'UTR|HSD11B1L_ENST00000301382.4_3'UTR|HSD11B1L_ENST00000581521.1_3'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000583928.1_3'UTR	p.R154fs	NM_001267871.1|NM_198705.2|NM_198708.2	NP_001254800.1|NP_941994.1|NP_941997.1	Q7Z5J1	DHI1L_HUMAN			6	982	+			235					Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8	Frame_Shift_Del	DEL	ENST00000423665.2	37	c.461delG	CCDS45931.1																																																																																				0.682	HSD11B1L-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000442573.1	NM_198706		2	4						2	4	---	---	---	---
