#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
OR4A47	403253	broad.mit.edu	37	11	48510452	48510452	+	Silent	SNP	C	C	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr11:48510452C>A	ENST00000446524.1	+	1	184	c.108C>A	c.(106-108)acC>acA	p.T36T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATTTTGACCATGGTGGGCA	0.423																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(106-108)acC>acA		olfactory receptor, family 4, subfamily A, member 47							38.0	36.0	37.0					11																	48510452		2201	4295	6496	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510452C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.108C>A	11.37:g.48510452C>A							p.T36T	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	184	+			36						Silent	SNP	ENST00000446524.1	37	c.108C>A	CCDS31490.1																																																																																				0.423	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		8	52	1	0	0.00307968	1	0.00307968	8	52				
DUS4L	11062	broad.mit.edu	37	7	107214150	107214150	+	Splice_Site	SNP	T	T	C			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:107214150T>C	ENST00000265720.3	+	5	602	c.240T>C	c.(238-240)ggT>ggC	p.G80G	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	80							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTTTGTCAGGTGATTGCCCAT	0.368																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.e5-1		dihydrouridine synthase 4-like (S. cerevisiae)							298.0	279.0	285.0					7																	107214150		2203	4300	6503	SO:0001630	splice_region_variant	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214150T>C	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.239-1T>C	7.37:g.107214150T>C						DUS4L_ENST00000402620.1_Intron	p.G80_splice	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			5	602	+			80					B4DLX0|Q2NKK1	Splice_Site	SNP	ENST00000265720.3	37	c.238_splice	CCDS5745.1																																																																																				0.368	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	Silent	7	225	0	0	0	1	0	7	225				
FKBPL	63943	broad.mit.edu	37	6	32097117	32097117	+	Silent	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr6:32097117G>A	ENST00000375156.3	-	2	711	c.441C>T	c.(439-441)ggC>ggT	p.G147G	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	147					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										ATGGCCCTACGCCCATAGTTA	0.577																																						ENST00000375156.3																			0											c.(439-441)ggC>ggT		FK506 binding protein like							193.0	211.0	205.0					6																	32097117		2203	4300	6503	SO:0001819	synonymous_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097117G>A	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.441C>T	6.37:g.32097117G>A							p.G147G	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	711	-			147					A8K5V3|B0UYX8|Q9H5G3	Silent	SNP	ENST00000375156.3	37	c.441C>T	CCDS4738.1																																																																																				0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			109	147	0	0	0	1	0	109	147				
XXYLT1	152002	broad.mit.edu	37	3	194877208	194877208	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:194877208C>T	ENST00000310380.6	-	3	863	c.755G>A	c.(754-756)gGc>gAc	p.G252D	XXYLT1_ENST00000355729.4_Missense_Mutation_p.G49D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G106D|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G49D	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	252						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCGGGCTATGCCGATGATGGC	0.572																																						ENST00000310380.6																			0											c.(754-756)gGc>gAc		xyloside xylosyltransferase 1							60.0	66.0	64.0					3																	194877208		1945	4136	6081	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194877208C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.755G>A	3.37:g.194877208C>T	ENSP00000309640:p.Gly252Asp					XXYLT1_ENST00000437101.1_Missense_Mutation_p.G49D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G106D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G49D	p.G252D	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			3	863	-			252					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.755G>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109838	0.77096	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000458652	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61446	-0.7061	10	0.87932	D	0	-0.5563	16.8528	0.85998	0.0:1.0:0.0:0.0	.	106;252;49	C9JV19;Q8NBI6;Q8NBI6-2	.;XXLT1_HUMAN;.	D	252;49;49;106;106	ENSP00000309640:G252D;ENSP00000409865:G49D;ENSP00000347967:G49D;ENSP00000399422:G106D	ENSP00000309640:G252D	G	-	2	0	C3orf21	196358497	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.414000	0.80117	2.569000	0.86673	0.563000	0.77884	GGC		0.572	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		4	47	0	0	0	1	0	4	47				
RASGRF1	5923	broad.mit.edu	37	15	79312394	79312394	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:79312394G>A	ENST00000419573.3	-	11	1869	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	532	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCTCCTCCGTGCTTTCTGG	0.498																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1594-1596)aCg>aTg		Ras protein-specific guanine nucleotide-releasing factor 1							138.0	118.0	125.0					15																	79312394		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79312394G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1595C>T	15.37:g.79312394G>A	ENSP00000405963:p.Thr532Met					RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M|RASGRF1_ENST00000560334.1_5'UTR	p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			11	1869	-			532			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1595C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711501	0.15239	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.31247	1.5	4.05	3.12	0.35913	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.267539	0.35772	N	0.002996	T	0.12135	0.0295	N	0.12182	0.205	0.80722	D	1	P;P;B;B	0.38677	0.642;0.454;0.138;0.066	B;B;B;B	0.29663	0.105;0.029;0.029;0.04	T	0.07986	-1.0744	10	0.45353	T	0.12	.	4.5238	0.11971	0.1191:0.0:0.6614:0.2195	.	532;532;532;532	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	M	532	ENSP00000405963:T532M	ENSP00000378224:T532M	T	-	2	0	RASGRF1	77099449	1.000000	0.71417	0.047000	0.18901	0.376000	0.30014	5.166000	0.64965	1.015000	0.39444	0.555000	0.69702	ACG		0.498	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	66	0	0	0	1	0	8	66				
ZBTB20	26137	broad.mit.edu	37	3	114058171	114058171	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:114058171C>T	ENST00000474710.1	-	5	2085	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y|ZBTB20_ENST00000462705.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	636						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGATACTACACTGGTATGC	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1687-1689)tGt>tAt		zinc finger and BTB domain containing 20							196.0	168.0	177.0					3																	114058171		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058171C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1907G>A	3.37:g.114058171C>T	ENSP00000419153:p.Cys636Tyr					ZBTB20_ENST00000474710.1_Missense_Mutation_p.C636Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y|ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y	p.C563Y	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2509	-			636					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1688G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507625	0.64410	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	D;D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97680	1.0172	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	636	Q9HC78	ZBT20_HUMAN	Y	563;563;563;563;636;563;563	ENSP00000420324:C563Y;ENSP00000377375:C563Y;ENSP00000418092:C563Y;ENSP00000419902:C563Y;ENSP00000419153:C636Y;ENSP00000349803:C563Y;ENSP00000417307:C563Y	ENSP00000349803:C563Y	C	-	2	0	ZBTB20	115540861	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGT		0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		9	95	0	0	0	1	0	9	95				
MUC16	94025	broad.mit.edu	37	19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T7168M(1)|p.T11535M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTTGTCGTTGAAACAGC	0.512																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.T7168M(1)|p.T11535M(1)	haematopoietic_and_lymphoid_tissue(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34603-34605)aCg>aTg		mucin 16, cell surface associated							127.0	122.0	124.0					19																	9047027		2040	4188	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047027G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34604C>T	19.37:g.9047027G>A	ENSP00000381008:p.Thr11535Met						p.T11535M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34807	-			11537			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34604C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.837	0.941290	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.6	0.296	0.15757	.	.	.	.	.	T	0.04003	0.0112	L	0.34521	1.04	.	.	.	D	0.76494	0.999	P	0.57324	0.818	T	0.40572	-0.9556	8	0.87932	D	0	.	5.4895	0.16769	0.3701:0.0:0.6299:0.0	.	11535	B5ME49	.	M	11535	ENSP00000381008:T11535M	ENSP00000381008:T11535M	T	-	2	0	MUC16	8908027	0.002000	0.14202	0.000000	0.03702	0.309000	0.27889	1.143000	0.31553	0.154000	0.19237	0.580000	0.79431	ACG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	41	0	0	0	1	0	10	41				
RNF114	55905	broad.mit.edu	37	20	48558201	48558201	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr20:48558201C>T	ENST00000244061.2	+	2	246	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	snoU13_ENST00000459122.1_RNA	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	82					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GGAGCTCGAGCGGCAGATCGA	0.557																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(244-246)Cgg>Tgg		ring finger protein 114							106.0	101.0	102.0					20																	48558201		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48558201C>T	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.244C>T	20.37:g.48558201C>T	ENSP00000244061:p.Arg82Trp						p.R82W	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			2	246	+			82					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.244C>T	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329349	0.81690	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	D	0.82526	-1.62	6.16	5.17	0.71159	.	0.453463	0.25458	N	0.030522	D	0.83087	0.5178	L	0.36672	1.1	0.32889	D	0.511568	D;D	0.76494	0.999;0.996	P;B	0.56700	0.804;0.424	D	0.86232	0.1638	10	0.87932	D	0	-15.6811	11.3002	0.49300	0.2602:0.7398:0.0:0.0	.	82;82	Q9Y508-2;Q9Y508	.;RN114_HUMAN	W	82	ENSP00000244061:R82W	ENSP00000244061:R82W	R	+	1	2	RNF114	47991608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.139000	0.42149	2.937000	0.99478	0.650000	0.86243	CGG		0.557	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		4	110	0	0	0	1	0	4	110				
TGIF2LY	90655	broad.mit.edu	37	Y	3447662	3447662	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chrY:3447662C>T	ENST00000559055.2	+	1	507	c.377C>T	c.(376-378)aCg>aTg	p.T126M	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						GGCCACAAAACGGGCAAAGAT	0.547																																						ENST00000559055.2																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(376-378)aCg>aTg		TGFB-induced factor homeobox 2-like, Y-linked							31.0	30.0	30.0					Y																	3447662		622	1977	2599	SO:0001583	missense	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447662C>T	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"""Homeoboxes / TALE class"""	18569	protein-coding gene	gene with protein product		400025	"""TGFB-induced factor 2-like, Y-linked"""				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.377C>T	Y.37:g.3447662C>T	ENSP00000453750:p.Thr126Met					TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M	p.T126M			Q8IUE0	TF2LY_HUMAN			1	507	+			126					A2VCU1	Missense_Mutation	SNP	ENST00000559055.2	37	c.377C>T	CCDS14775.1																																																																																				0.547	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214		13	22	0	0	0	1	0	13	22				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	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			36	51	0	0	0	1	0	36	51				
PTPRN	5798	broad.mit.edu	37	2	220168541	220168541	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:220168541T>C	ENST00000295718.2	-	4	533	c.293A>G	c.(292-294)cAc>cGc	p.H98R	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	98					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGGTCATCGTGCCAGGACAA	0.587																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(292-294)cAc>cGc		protein tyrosine phosphatase, receptor type, N							69.0	62.0	65.0					2																	220168541		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168541T>C		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.293A>G	2.37:g.220168541T>C	ENSP00000295718:p.His98Arg					PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R|AC114803.3_ENST00000417355.1_RNA	p.H98R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	4	533	-		Renal(207;0.0474)	98					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.293A>G	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290434	0.40494	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.03301	3.98;4.0;4.02	5.05	5.05	0.67936	.	0.293297	0.22005	N	0.065945	T	0.02767	0.0083	N	0.12182	0.205	0.27155	N	0.96131	B;B	0.30068	0.267;0.146	B;B	0.24974	0.039;0.057	T	0.42327	-0.9458	10	0.41790	T	0.15	.	13.0838	0.59129	0.0:0.0:0.0:1.0	.	98;98	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	98;98;98;8;98;8;8;65;8;8	ENSP00000386638:H98R;ENSP00000295718:H98R;ENSP00000444244:H8R	ENSP00000295718:H98R	H	-	2	0	PTPRN	219876785	1.000000	0.71417	0.999000	0.59377	0.609000	0.37215	4.011000	0.57124	1.916000	0.55485	0.248000	0.18094	CAC		0.587	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			4	19	0	0	0	1	0	4	19				
RELN	5649	broad.mit.edu	37	7	103202290	103202290	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:103202290C>T	ENST00000428762.1	-	35	5480	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000424685.2_Missense_Mutation_p.G1774E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1774	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATCCCTCGTCCTGAGCACAT	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5320-5322)gGa>gAa		reelin							104.0	91.0	95.0					7																	103202290		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202290C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5321G>A	7.37:g.103202290C>T	ENSP00000392423:p.Gly1774Glu					RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000424685.2_Missense_Mutation_p.G1774E	p.G1774E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5480	-			1774			EGF-like 4.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5321G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978161	0.92982	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.55234	0.53;0.53;0.53	5.78	5.78	0.91487	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79157	-0.1919	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	1774;1774	P78509-2;P78509	.;RELN_HUMAN	E	1774	ENSP00000392423:G1774E;ENSP00000345694:G1774E;ENSP00000388446:G1774E	ENSP00000345694:G1774E	G	-	2	0	RELN	102989526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	GGA		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	44	0	0	0	1	0	5	44				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	42	0	0	0	1	0	3	42				
FUT5	2527	broad.mit.edu	37	19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:5866758C>T	ENST00000588525.1	-	2	1066	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	FUT5_ENST00000252675.5_Missense_Mutation_p.A327T	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	327					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTAGCGGGCGTGGTCCTTG	0.642																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(979-981)Gcc>Acc		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							16.0	24.0	21.0					19																	5866758		2178	4268	6446	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5866758C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.979G>A	19.37:g.5866758C>T	ENSP00000466880:p.Ala327Thr					FUT5_ENST00000588525.1_Missense_Mutation_p.A327T	p.A327T			Q11128	FUT5_HUMAN			5	1541	-			327					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.979G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409817	0.25465	.	.	ENSG00000130383	ENST00000252675	T	0.22743	1.94	2.34	-1.46	0.08800	.	0.729961	0.11871	U	0.521485	T	0.09555	0.0235	N	0.20401	0.57	0.09310	N	1	B	0.27229	0.172	B	0.28991	0.097	T	0.35847	-0.9772	10	0.17369	T	0.5	.	1.9958	0.03456	0.1962:0.4718:0.1936:0.1385	.	327	Q11128	FUT5_HUMAN	T	327	ENSP00000252675:A327T	ENSP00000252675:A327T	A	-	1	0	FUT5	5817758	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.227000	0.02950	-0.097000	0.12307	0.407000	0.27541	GCC		0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		6	30	0	0	0	1	0	6	30				
TBC1D3P2	440452	broad.mit.edu	37	17	60345534	60345534	+	RNA	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr17:60345534G>A	ENST00000581291.1	-	0	817									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GGGTAGTGACGTGGCTACCAC	0.607																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60345534G>A			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60345534G>A														0	817	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.607	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		38	132	0	0	0	1	0	38	132				
HERC1	8925	broad.mit.edu	37	15	64045206	64045206	+	Missense_Mutation	SNP	T	T	C	rs200768642		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:64045206T>C	ENST00000443617.2	-	8	1940	c.1853A>G	c.(1852-1854)aAa>aGa	p.K618R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	618					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCACAAACTTTGCGAATGAA	0.378																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1852-1854)aAa>aGa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							101.0	97.0	98.0					15																	64045206		1855	4100	5955	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64045206T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1853A>G	15.37:g.64045206T>C	ENSP00000390158:p.Lys618Arg						p.K618R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			8	1940	-			618					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1853A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237690	0.95240	.	.	ENSG00000103657	ENST00000443617	D	0.85773	-2.03	5.41	5.41	0.78517	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.89497	0.6732	L	0.46947	1.48	0.58432	D	0.999999	D;D	0.63046	0.974;0.992	D;D	0.70487	0.944;0.969	D	0.89837	0.4000	10	0.52906	T	0.07	.	15.7482	0.77962	0.0:0.0:0.0:1.0	.	618;618	C9JUT5;Q15751	.;HERC1_HUMAN	R	618	ENSP00000390158:K618R	ENSP00000390158:K618R	K	-	2	0	HERC1	61832259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.186000	0.69663	0.528000	0.53228	AAA		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		3	41	0	0	0	1	0	3	41				
MST1L	11223	broad.mit.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124	byFrequency	TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:17083776C>A	ENST00000455405.2	-	0	812							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.R674L(1)	endometrium(1)																																																0							g.chr1:17083776C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083776C>A														0	812	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	14.57	2.575742	0.45902	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000756	T	0.66197	0.2765	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72117	-0.4387	6	0.87932	D	0	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	rs56318124	674;700	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	674;700	.	ENSP00000439273:R674L	R	-	2	0	MST1P9	16956363	1.000000	0.71417	0.897000	0.35233	0.000000	0.00434	4.748000	0.62148	0.502000	0.28037	0.000000	0.15137	CGT		0.537	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	9	1	0	8.12818e-05	1	8.46686e-05	3	9				
OR2T12	127064	broad.mit.edu	37	1	248458774	248458774	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:248458774G>A	ENST00000317996.1	-	1	106	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(106-108)tCc>tTc		olfactory receptor, family 2, subfamily T, member 12							109.0	102.0	104.0					1																	248458774		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458774G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.107C>T	1.37:g.248458774G>A	ENSP00000324583:p.Ser36Phe						p.S36F	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	106	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		36						Missense_Mutation	SNP	ENST00000317996.1	37	c.107C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.917197	0.33815	.	.	ENSG00000177201	ENST00000317996	T	0.00311	8.15	1.55	-1.18	0.09617	.	0.247187	0.21173	U	0.078950	T	0.00552	0.0018	M	0.86502	2.82	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.40850	-0.9541	10	0.87932	D	0	.	7.015	0.24883	0.2742:0.0:0.7258:0.0	.	36	Q8NG77	O2T12_HUMAN	F	36	ENSP00000324583:S36F	ENSP00000324583:S36F	S	-	2	0	OR2T12	246525397	0.008000	0.16893	0.004000	0.12327	0.227000	0.25037	1.596000	0.36718	-0.223000	0.09943	0.175000	0.17021	TCC		0.502	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		41	68	0	0	0	1	0	41	68				
ABCC11	85320	broad.mit.edu	37	16	48218516	48218516	+	Silent	SNP	C	C	T	rs141323816		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr16:48218516C>T	ENST00000394747.1	-	22	3442	c.3093G>A	c.(3091-3093)gcG>gcA	p.A1031A	ABCC11_ENST00000356608.2_Silent_p.A1031A|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000394748.1_Silent_p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGTTATTCTGCGCATCAGTCA	0.512																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3091-3093)gcG>gcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11		C	,,	0,4402		0,0,2201	170.0	143.0	153.0		3093,3093,3093	-8.4	0.0	16	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	1031/1383,1031/1383,1031/1345	48218516	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218516C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3093G>A	16.37:g.48218516C>T						ABCC11_ENST00000356608.2_Silent_p.A1031A|ABCC11_ENST00000394748.1_Silent_p.A1031A|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000565329.1_5'UTR	p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3442	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1031			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3093G>A	CCDS10732.1																																																																																				0.512	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		21	31	0	0	0	1	0	21	31				
GPAT2	150763	broad.mit.edu	37	2	96690336	96690336	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:96690336C>T	ENST00000434632.1	-	16	1967	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	503					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1507-1509)aGc>aAc		glycerol-3-phosphate acyltransferase 2, mitochondrial							46.0	54.0	51.0					2																	96690336		2106	4236	6342	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690336C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1508G>A	2.37:g.96690336C>T	ENSP00000389395:p.Ser503Asn					GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N|GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N	p.S503N			Q6NUI2	GPAT2_HUMAN			16	1967	-			503					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1508G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	8.543	0.873741	0.17322	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.76709	-1.03;-1.03;-0.02;-1.04	4.63	3.67	0.42095	.	0.854636	0.10604	N	0.655315	T	0.60495	0.2273	N	0.08118	0	0.21020	N	0.999808	P;B;B;B;D	0.53745	0.902;0.435;0.225;0.302;0.962	B;B;B;B;P	0.48840	0.415;0.086;0.047;0.054;0.592	T	0.49762	-0.8905	10	0.08837	T	0.75	-9.1457	6.8571	0.24046	0.0:0.8718:0.0:0.1282	.	432;503;509;503;432	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	N	503;503;432;503	ENSP00000352547:S503N;ENSP00000389395:S503N;ENSP00000393770:S432N;ENSP00000366341:S503N	ENSP00000352547:S503N	S	-	2	0	GPAT2	96054063	0.989000	0.36119	1.000000	0.80357	0.046000	0.14306	1.470000	0.35354	2.418000	0.82041	0.637000	0.83480	AGC		0.657	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		15	35	0	0	0	1	0	15	35				
RAB3GAP1	22930	broad.mit.edu	37	2	135926349	135926349	+	Nonstop_Mutation	SNP	T	T	G			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:135926349T>G	ENST00000264158.8	+	24	2987	c.2944T>G	c.(2944-2946)Tga>Gga	p.*982G	RAB3GAP1_ENST00000487003.1_Intron|RAB3GAP1_ENST00000539493.1_Intron|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	0					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCTTCTGATTCTTCTA	0.527																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2944-2946)Tga>Gga		RAB3 GTPase activating protein subunit 1 (catalytic)							91.0	92.0	91.0					2																	135926349		2203	4300	6503	SO:0001578	stop_lost	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135926349T>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2944T>G	2.37:g.135926349T>G	ENSP00000264158:p.*982Glyext*3					RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G|RAB3GAP1_ENST00000487003.1_Intron|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Intron	p.*982G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	24	2987	+			0					A6H8Z3|C9J837|Q659F5|Q8TBB4	Nonstop_Mutation	SNP	ENST00000264158.8	37	c.2944T>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657682	0.29425	.	.	ENSG00000115839	ENST00000264158;ENST00000442034	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	.	.	.	G	982;989	.	.	X	+	1	0	RAB3GAP1	135642819	1.000000	0.71417	0.930000	0.37139	0.384000	0.30261	7.692000	0.84203	2.218000	0.71995	0.533000	0.62120	TGA		0.527	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		4	42	0	0	0	1	0	4	42				
GPR98	84059	broad.mit.edu	37	5	90079059	90079059	+	Silent	SNP	C	C	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr5:90079059C>T	ENST00000405460.2	+	66	13446	c.13350C>T	c.(13348-13350)taC>taT	p.Y4450Y	GPR98_ENST00000425867.2_Silent_p.Y111Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4450	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGTTGATTACATTTTGCATG	0.413																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13348-13350)taC>taT		G protein-coupled receptor 98							133.0	128.0	130.0					5																	90079059		1965	4164	6129	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90079059C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13350C>T	5.37:g.90079059C>T						GPR98_ENST00000425867.2_Silent_p.Y111Y	p.Y4450Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13446	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4450			Calx-beta 30.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13350C>T	CCDS47246.1																																																																																				0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	77	0	0	0	1	0	13	77				
FUBP1	8880	broad.mit.edu	37	1	78429977	78429978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:78429977_78429978insT	ENST00000370768.2	-	11	982_983	c.901_902insA	c.(901-903)atafs	p.I301fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.I301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I322fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	301	KH 3. {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)	p.I301fs*22(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATCATTTTGTATTTTTTTGATC	0.347			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		1	Deletion - Frameshift(1)	p.I301fs*22(1)	large_intestine(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(901-903)acafs		far upstream element (FUSE) binding protein 1																																				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.chr1:78429977_78429978insT	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.902dupA	1.37:g.78429984_78429984dupT	ENSP00000359804:p.Ile301fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.T301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T322fs	p.T301fs			Q96AE4	FUBP1_HUMAN			11	988_989	-			301			KH 3.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.901_902insA	CCDS683.1																																																																																				0.347	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		7	27						7	27	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124952039	124952039	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:124952039delC	ENST00000360647.4	-	9	2016	c.1531delG	c.(1531-1533)gaafs	p.E511fs	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	511					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTGGTACTTTCATCAATGACA	0.438																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1531-1533)aafs		zinc finger protein 148							130.0	124.0	126.0					3																	124952039		2203	4300	6503	SO:0001589	frameshift_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952039delC	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1531delG	3.37:g.124952039delC	ENSP00000353863:p.Glu511fs					SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000497929.1_5'UTR	p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2016	-			511					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	ENST00000360647.4	37	c.1531delG	CCDS3031.1																																																																																				0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		10	101						10	101	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A	rs376893532		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	20						7	20	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		3	5						3	5	---	---	---	---
