#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	81	0	0	0	0.004672	0	3	81				
SDK2	54549	broad.mit.edu	37	17	71429886	71429886	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:71429886T>C	ENST00000392650.3	-	10	1297	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	SDK2_ENST00000388726.3_Missense_Mutation_p.I433V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	433	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCCAAGTGATAGCTGGTCGG	0.577																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1297-1299)Atc>Gtc		sidekick cell adhesion molecule 2							41.0	31.0	34.0					17																	71429886		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71429886T>C	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1297A>G	17.37:g.71429886T>C	ENSP00000376421:p.Ile433Val					SDK2_ENST00000388726.3_Missense_Mutation_p.I433V	p.I433V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			10	1297	-			433			Ig-like C2-type 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1297A>G	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.90|15.90	2.969012|2.969012	0.53614|0.53614	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.60424|.	0.19;0.19|.	4.8|4.8	4.8|4.8	0.61643|0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.113344|.	0.64402|.	D|.	0.000016|.	T|T	0.57198|0.57198	0.2037|0.2037	L|L	0.37697|0.37697	1.125|1.125	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.15719|.	0.014;0.005|.	B;B|.	0.28139|.	0.036;0.086|.	T|T	0.54616|0.54616	-0.8267|-0.8267	10|5	0.19147|.	T|.	0.46|.	.|.	14.6447|14.6447	0.68751|0.68751	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	433;433|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	V|C	57;433;433;433|337	ENSP00000376421:I433V;ENSP00000373378:I433V|.	ENSP00000324967:I433V|.	I|Y	-|-	1|2	0|0	SDK2|SDK2	68941481|68941481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.016000|7.016000	0.76393|0.76393	1.925000|1.925000	0.55765|0.55765	0.379000|0.379000	0.24179|0.24179	ATC|TAT		0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	5	0	0	0	0.004672	0	3	5				
BMS1	9790	broad.mit.edu	37	10	43318593	43318593	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr10:43318593G>A	ENST00000374518.5	+	20	3223	c.3160G>A	c.(3160-3162)Gcc>Acc	p.A1054T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1054					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGAAGTGGCCAAATTTGA	0.423																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3160-3162)Gcc>Acc		BMS1 ribosome biogenesis factor							77.0	82.0	80.0					10																	43318593		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318593G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3160G>A	10.37:g.43318593G>A	ENSP00000363642:p.Ala1054Thr						p.A1054T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3223	+			1054					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3160G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330070	0.95733	.	.	ENSG00000165733	ENST00000374518	T	0.18016	2.24	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.71296	2.17	0.80722	D	1	P	0.50819	0.939	P	0.56278	0.795	T	0.10567	-1.0624	10	0.37606	T	0.19	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1054	Q14692	BMS1_HUMAN	T	1054	ENSP00000363642:A1054T	ENSP00000363642:A1054T	A	+	1	0	BMS1	42638599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	GCC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	122	0	0	0	0.009096	0	4	122				
CRAT	1384	broad.mit.edu	37	9	131857756	131857756	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:131857756C>T	ENST00000318080.2	-	14	2095	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	601					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCAGGCGGGCGGCGTTGGTC	0.667																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1801-1803)Gcc>Acc		carnitine O-acetyltransferase	L-Carnitine(DB00583)						49.0	51.0	51.0					9																	131857756		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131857756C>T	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1801G>A	9.37:g.131857756C>T	ENSP00000315013:p.Ala601Thr						p.A601T	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	14	2095	-			601					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1801G>A	CCDS6919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.404958|2.404958	0.42613|0.42613	.|.	.|.	ENSG00000095321|ENSG00000095321	ENST00000351352;ENST00000318080|ENST00000455396	D|.	0.89343|.	-2.5|.	4.62|4.62	3.72|3.72	0.42706|0.42706	.|.	0.191100|.	0.44285|.	D|.	0.000468|.	T|T	0.50956|0.50956	0.1646|0.1646	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	B|.	0.14805|.	0.011|.	B|.	0.09377|.	0.004|.	T|T	0.42666|0.42666	-0.9438|-0.9438	10|5	0.20046|.	T|.	0.44|.	-22.5113|-22.5113	11.6269|11.6269	0.51151|0.51151	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	601|.	P43155|.	CACP_HUMAN|.	T|H	520;601|175	ENSP00000315013:A601T|.	ENSP00000315013:A601T|.	A|R	-|-	1|2	0|0	CRAT|CRAT	130897577|130897577	1.000000|1.000000	0.71417|0.71417	0.790000|0.790000	0.31976|0.31976	0.956000|0.956000	0.61745|0.61745	4.711000|4.711000	0.61881|0.61881	1.155000|1.155000	0.42497|0.42497	0.609000|0.609000	0.83330|0.83330	GCC|CGC		0.667	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			15	19	0	0	0	0.028581	0	15	19				
KLF14	136259	broad.mit.edu	37	7	130418291	130418291	+	Silent	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:130418291A>G	ENST00000310992.4	-	1	597	c.570T>C	c.(568-570)ccT>ccC	p.P190P		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCTTGGCAGCAGGTGTGACAG	0.701																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(568-570)ccT>ccC		Kruppel-like factor 14							16.0	15.0	16.0					7																	130418291		2199	4295	6494	SO:0001819	synonymous_variant	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418291A>G	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.570T>C	7.37:g.130418291A>G							p.P190P	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	597	-	Melanoma(18;0.0435)		190					Q19A42|Q19A43	Silent	SNP	ENST00000310992.4	37	c.570T>C	CCDS5825.1																																																																																				0.701	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		7	9	0	0	0	0.029380	0	7	9				
ZBTB20	26137	broad.mit.edu	37	3	114069362	114069362	+	Silent	SNP	G	G	A	rs201414136		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:114069362G>A	ENST00000474710.1	-	4	1741	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	ZBTB20_ENST00000481632.1_Silent_p.P448P|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.P448P|ZBTB20_ENST00000357258.3_Silent_p.P448P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P448P|ZBTB20_ENST00000462705.1_Silent_p.P448P|ZBTB20_ENST00000393785.2_Silent_p.P448P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	521						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)		GGAAAGGCTTGGGGCCACTGC	0.627																																					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.(1342-1344)ccC>ccT		zinc finger and BTB domain containing 20							49.0	52.0	51.0					3																	114069362		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069362G>A	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.1563C>T	3.37:g.114069362G>A						ZBTB20_ENST00000474710.1_Silent_p.P521P|ZBTB20_ENST00000481632.1_Silent_p.P448P|ZBTB20_ENST00000357258.3_Silent_p.P448P|ZBTB20_ENST00000471418.1_Silent_p.P448P|ZBTB20_ENST00000464560.1_Silent_p.P448P|ZBTB20_ENST00000393785.2_Silent_p.P448P	p.P448P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2165	-			521					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1344C>T	CCDS54626.1																																																																																				0.627	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	45	0	0	0	0.041601	0	28	45				
ISL2	64843	broad.mit.edu	37	15	76630688	76630688	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:76630688T>C	ENST00000290759.4	+	3	504	c.344T>C	c.(343-345)tTc>tCc	p.F115S	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	115	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ATCGAGTGCTTCCGCTGCTCC	0.682																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(343-345)tTc>tCc		ISL LIM homeobox 2							18.0	17.0	18.0					15																	76630688		2193	4282	6475	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76630688T>C	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.344T>C	15.37:g.76630688T>C	ENSP00000290759:p.Phe115Ser						p.F115S	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			3	504	+			115			LIM zinc-binding 2.		B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.344T>C	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677928	0.88445	.	.	ENSG00000159556	ENST00000290759	D	0.94000	-3.33	4.3	4.3	0.51218	Zinc finger, LIM-type (5);	0.102875	0.64402	D	0.000002	D	0.97554	0.9199	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98308	1.0522	10	0.87932	D	0	.	12.4408	0.55623	0.0:0.0:0.0:1.0	.	115	Q96A47	ISL2_HUMAN	S	115	ENSP00000290759:F115S	ENSP00000290759:F115S	F	+	2	0	ISL2	74417743	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.868000	0.69605	1.801000	0.52704	0.454000	0.30748	TTC		0.682	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			2	4	0	0	0	0.004672	0	2	4				
WNT3	7473	broad.mit.edu	37	17	44845704	44845704	+	Silent	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:44845704G>A	ENST00000225512.5	-	4	1212	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	350					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGTGCACGTCGTAGATGC	0.607																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(1048-1050)gaC>gaT		wingless-type MMTV integration site family, member 3							61.0	51.0	54.0					17																	44845704		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845704G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.1050C>T	17.37:g.44845704G>A							p.D350D	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1212	-			350					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.1050C>T	CCDS11505.1																																																																																				0.607	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		3	49	0	0	0	0.004672	0	3	49				
KRTAP10-10	353333	broad.mit.edu	37	21	46057415	46057415	+	Silent	SNP	C	C	T	rs587752857	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr21:46057415C>T	ENST00000380095.1	+	1	143	c.81C>T	c.(79-81)tgC>tgT	p.C27C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	27	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGAGCTGCTGCGAGCCCTGCT	0.682													C|||	10	0.00199681	0.0	0.0	5008	,	,		16606	0.001		0.0	False		,,,				2504	0.0092					ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(79-81)tgC>tgT		keratin associated protein 10-10							69.0	74.0	73.0					21																	46057415		2203	4299	6502	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057415C>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.81C>T	21.37:g.46057415C>T						TSPEAR_ENST00000323084.4_Intron	p.C27C	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	143	+			27			15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.81C>T	CCDS33585.1																																																																																				0.682	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		50	77	0	0	0	0.048971	0	50	77				
TCHH	7062	broad.mit.edu	37	1	152085364	152085364	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152085364A>G	ENST00000368804.1	-	2	328	c.329T>C	c.(328-330)tTa>tCa	p.L110S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	110					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGATCTTGTAACAGGCTCTC	0.542																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(328-330)tTa>tCa		trichohyalin							176.0	168.0	171.0					1																	152085364		1946	4149	6095	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085364A>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.329T>C	1.37:g.152085364A>G	ENSP00000357794:p.Leu110Ser						p.L110S	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	328	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		110					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.329T>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	a	5.971	0.363101	0.11296	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	5.01	-2.46	0.06461	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.26081	0.141	B	0.22386	0.039	T	0.43245	-0.9403	9	0.15066	T	0.55	0.115	11.4142	0.49943	0.4351:0.0:0.5649:0.0	.	110	Q07283	TRHY_HUMAN	S	110	ENSP00000357794:L110S	ENSP00000357794:L110S	L	-	2	0	TCHH	150351988	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.253000	0.08794	-0.354000	0.08212	-0.393000	0.06486	TTA		0.542	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		94	73	0	0	0	0.048971	0	94	73				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	68	0	0	0	0.009096	0	4	68				
MKRN1	23608	broad.mit.edu	37	7	140154990	140154990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:140154990G>A	ENST00000255977.2	-	7	1365	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	MKRN1_ENST00000437223.2_Missense_Mutation_p.P115S|MKRN1_ENST00000474576.1_Missense_Mutation_p.P317S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	381					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCCAAATGGGCAGCTCCCA	0.483																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1141-1143)Cca>Tca		makorin ring finger protein 1							125.0	122.0	123.0					7																	140154990		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154990G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1141C>T	7.37:g.140154990G>A	ENSP00000255977:p.Pro381Ser					MKRN1_ENST00000474576.1_Missense_Mutation_p.P317S|MKRN1_ENST00000437223.2_Missense_Mutation_p.P115S	p.P381S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			7	1365	-	Melanoma(164;0.00956)		381					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.1141C>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307449	0.81247	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576	T;T;T	0.40225	1.04;1.14;1.04	4.89	4.89	0.63831	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.78801	2.425	0.80722	D	1	D	0.64830	0.994	P	0.60415	0.874	T	0.68731	-0.5331	10	0.66056	D	0.02	.	18.2431	0.89974	0.0:0.0:1.0:0.0	.	381	Q9UHC7	MKRN1_HUMAN	S	381;317;115;317	ENSP00000255977:P381S;ENSP00000439823:P115S;ENSP00000417863:P317S	ENSP00000255977:P381S	P	-	1	0	MKRN1	139801459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.164000	0.94755	2.526000	0.85167	0.650000	0.86243	CCA		0.483	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		8	135	0	0	0	0.069234	0	8	135				
CABIN1	23523	broad.mit.edu	37	22	24567940	24567940	+	Missense_Mutation	SNP	C	C	T	rs200720834		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr22:24567940C>T	ENST00000398319.2	+	34	6402	c.6017C>T	c.(6016-6018)cCc>cTc	p.P2006L	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1927L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P2006L|CABIN1_ENST00000337989.7_Missense_Mutation_p.P431L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2006					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCTACCCCCAGCATGGCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19157	0.001		0.0	False		,,,				2504	0.0					ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(6016-6018)cCc>cTc		calcineurin binding protein 1							44.0	42.0	43.0					22																	24567940		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567940C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.6017C>T	22.37:g.24567940C>T	ENSP00000381364:p.Pro2006Leu					CABIN1_ENST00000263119.5_Missense_Mutation_p.P2006L|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.P431L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1927L	p.P2006L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			34	6402	+			2006					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.6017C>T	CCDS13823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.66	2.303435	0.40795	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.18960	2.18;2.18;2.18;2.23	4.9	3.88	0.44766	.	0.397726	0.25233	N	0.032151	T	0.12902	0.0313	N	0.19112	0.55	0.43047	D	0.994649	P;B	0.35575	0.51;0.104	B;B	0.32864	0.154;0.036	T	0.09037	-1.0693	10	0.59425	D	0.04	.	9.7364	0.40390	0.0:0.9016:0.0:0.0984	.	1927;2006	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	L	2006;1927;2006;431;430	ENSP00000263119:P2006L;ENSP00000384694:P1927L;ENSP00000381364:P2006L;ENSP00000336991:P431L	ENSP00000263119:P2006L	P	+	2	0	CABIN1	22897940	0.993000	0.37304	0.536000	0.28039	0.378000	0.30076	2.738000	0.47401	1.389000	0.46526	0.650000	0.86243	CCC		0.647	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		10	13	0	0	0	0.058154	0	10	13				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	148	0	0	0	0.029380	0	7	148				
TRAV41	28640	broad.mit.edu	37	14	22789020	22789020	+	RNA	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr14:22789020A>G	ENST00000390468.1	+	0	233									T cell receptor alpha variable 41																		AAGAAGAAGCATGGAAGATTA	0.488																																						ENST00000390468.1																			0																				51.0	53.0	53.0					14																	22789020		2011	4204	6215			0							g.chr14:22789020A>G	AE000661		14q11.2	2012-02-07			ENSG00000211820	ENSG00000211820		"""T cell receptors / TRA locus"""	12142	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV19S1, TCRAV41S1			OTTHUMG00000170841		14.37:g.22789020A>G														0	233	+									RNA	SNP	ENST00000390468.1	37																																																																																						0.488	TRAV41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410667.1	NG_001332		10	21	0	0	0	0.069234	0	10	21				
FNIP1	96459	broad.mit.edu	37	5	131013435	131013435	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:131013435C>T	ENST00000510461.1	-	13	1575	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	FNIP1_ENST00000307954.8_Missense_Mutation_p.A449T|FNIP1_ENST00000511848.1_Missense_Mutation_p.A494T|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.A466T	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	494					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1396-1398)Gca>Aca		folliculin interacting protein 1							129.0	126.0	127.0					5																	131013435		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131013435C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1480G>A	5.37:g.131013435C>T	ENSP00000421985:p.Ala494Thr					FNIP1_ENST00000510461.1_Missense_Mutation_p.A494T|FNIP1_ENST00000511848.1_Missense_Mutation_p.A494T|FNIP1_ENST00000307954.8_Missense_Mutation_p.A449T|FNIP1_ENST00000514667.1_Intron	p.A466T	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	12	1395	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.1396G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590210	0.96590	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.45	5.45	0.79879	.	.	.	.	.	T	0.57755	0.2075	M	0.72118	2.19	0.80722	D	1	D;D;D;B	0.71674	0.986;0.998;0.986;0.183	P;D;P;B	0.81914	0.772;0.995;0.772;0.287	T	0.59231	-0.7493	9	0.72032	D	0.01	-0.4824	19.6467	0.95778	0.0:1.0:0.0:0.0	.	494;494;466;494	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	T	466;449;254;494;494	ENSP00000309266:A466T;ENSP00000310453:A449T;ENSP00000421985:A494T;ENSP00000425619:A494T	ENSP00000310453:A449T	A	-	1	0	FNIP1	131041334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.716000	0.92895	0.655000	0.94253	GCA		0.383	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		33	56	0	0	0	0.054565	0	33	56				
ASB17	127247	broad.mit.edu	37	1	76387892	76387892	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:76387892A>G	ENST00000284142.6	-	2	693	c.554T>C	c.(553-555)aTa>aCa	p.I185T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	185					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTAGAGTACTATTGTTAAGAC	0.358																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(553-555)aTa>aCa		ankyrin repeat and SOCS box containing 17							115.0	97.0	103.0					1																	76387892		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76387892A>G	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.554T>C	1.37:g.76387892A>G	ENSP00000284142:p.Ile185Thr						p.I185T	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			2	693	-			185					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.554T>C	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751615	0.31046	.	.	ENSG00000154007	ENST00000284142	T	0.35236	1.32	4.81	4.81	0.61882	.	0.564986	0.16739	N	0.201511	T	0.11879	0.0289	L	0.27053	0.805	0.27017	N	0.964542	P	0.41673	0.759	B	0.34824	0.19	T	0.06356	-1.0831	10	0.87932	D	0	.	11.0751	0.48027	1.0:0.0:0.0:0.0	.	185	Q8WXJ9	ASB17_HUMAN	T	185	ENSP00000284142:I185T	ENSP00000284142:I185T	I	-	2	0	ASB17	76160480	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.865000	0.62998	1.945000	0.56424	0.378000	0.23410	ATA		0.358	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		23	8	0	0	0	0.083992	0	23	8				
FCRL1	115350	broad.mit.edu	37	1	157766909	157766909	+	Silent	SNP	C	C	T	rs376564519		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:157766909C>T	ENST00000368176.3	-	10	1267	c.1200G>A	c.(1198-1200)ggG>ggA	p.G400G	FCRL1_ENST00000358292.3_Missense_Mutation_p.G358E|FCRL1_ENST00000491942.1_Silent_p.G399G|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	400						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATATGTGTCCCCAGGGTTT	0.403																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(1072-1074)gGa>gAa		Fc receptor-like 1							151.0	150.0	151.0					1																	157766909		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157766909C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1200G>A	1.37:g.157766909C>T						FCRL1_ENST00000491942.1_Silent_p.G399G|FCRL1_ENST00000368176.3_Silent_p.G400G|FCRL1_ENST00000489998.1_5'UTR	p.G358E	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		9	1124	-	all_hematologic(112;0.0378)		0					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.1073G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168639	0.38315	.	.	ENSG00000163534	ENST00000358292	T	0.51071	0.72	4.3	-0.865	0.10662	.	1.816250	0.02151	N	0.057961	T	0.05823	0.0152	.	.	.	0.09310	N	1	P	0.35107	0.484	B	0.33254	0.16	T	0.07849	-1.0751	9	0.02654	T	1	.	4.4019	0.11390	0.0:0.4091:0.3146:0.2764	.	358	Q96LA6-3	.	E	358	ENSP00000351039:G358E	ENSP00000351039:G358E	G	-	2	0	FCRL1	156033533	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.128000	0.15810	-0.135000	0.11495	-0.145000	0.13849	GGA		0.403	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		25	68	0	0	0	0.108266	0	25	68				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	137	0	0	0	0.014758	0	4	137				
ADAM10	102	broad.mit.edu	37	15	58925546	58925546	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:58925546C>T	ENST00000260408.3	-	9	1468	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Missense_Mutation_p.G41E|ADAM10_ENST00000396140.2_Missense_Mutation_p.G41E	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	342	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCACATATTCCTCCAGAGCT	0.343																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1024-1026)gGa>gAa		ADAM metallopeptidase domain 10							80.0	82.0	81.0					15																	58925546		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925546C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1025G>A	15.37:g.58925546C>T	ENSP00000260408:p.Gly342Glu					ADAM10_ENST00000396140.2_Missense_Mutation_p.G41E|ADAM10_ENST00000402627.1_Missense_Mutation_p.G41E|ADAM10_ENST00000561288.1_Intron	p.G342E	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1468	-			342			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1025G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387231	0.82902	.	.	ENSG00000137845	ENST00000260408;ENST00000402627;ENST00000396136;ENST00000396140	D;D;D	0.89939	-2.59;-2.59;-2.59	5.72	4.8	0.61643	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.96472	0.9349	10	0.87932	D	0	-16.6468	14.6358	0.68689	0.0:0.9301:0.0:0.0699	.	41;342	B4DU28;O14672	.;ADA10_HUMAN	E	342;41;161;41	ENSP00000260408:G342E;ENSP00000386056:G41E;ENSP00000379444:G41E	ENSP00000260408:G342E	G	-	2	0	ADAM10	56712838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	1.410000	0.46936	0.655000	0.94253	GGA		0.343	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		16	6	0	0	0	0.033300	0	16	6				
NOS2	4843	broad.mit.edu	37	17	26107803	26107803	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:26107803C>T	ENST00000313735.6	-	9	1227	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	332					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TTGGGATGTTCCATGGCCACC	0.597																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(994-996)Gaa>Aaa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						73.0	64.0	67.0					17																	26107803		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26107803C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.994G>A	17.37:g.26107803C>T	ENSP00000327251:p.Glu332Lys						p.E332K	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			9	1227	-			332					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.994G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629355	0.67015	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.21031	2.03	5.38	5.38	0.77491	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.32530	0.975	0.42793	D	0.993904	P;D	0.54964	0.571;0.969	B;P	0.56960	0.151;0.81	T	0.01386	-1.1368	10	0.23891	T	0.37	.	18.1157	0.89553	0.0:1.0:0.0:0.0	.	332;332	F8WEM3;P35228	.;NOS2_HUMAN	K	332;293;332	ENSP00000327251:E332K	ENSP00000305638:E332K	E	-	1	0	NOS2	23131930	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.900000	0.56295	2.498000	0.84270	0.561000	0.74099	GAA		0.597	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		15	26	0	0	0	0.024245	0	15	26				
TUBGCP3	10426	broad.mit.edu	37	13	113140437	113140437	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:113140437A>G	ENST00000261965.3	-	22	2780	c.2594T>C	c.(2593-2595)cTg>cCg	p.L865P		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	865					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGGTCGTCAGTAACACCAA	0.473																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(2593-2595)cTg>cCg		tubulin, gamma complex associated protein 3							29.0	26.0	27.0					13																	113140437		2202	4293	6495	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113140437A>G	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2594T>C	13.37:g.113140437A>G	ENSP00000261965:p.Leu865Pro						p.L865P	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			22	2780	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		865					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2594T>C	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310848	0.60414	.	.	ENSG00000126216	ENST00000261965	T	0.32753	1.44	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	T	0.59404	0.2191	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.67601	-0.5629	10	0.87932	D	0	-15.5064	14.2205	0.65823	1.0:0.0:0.0:0.0	.	855;865	B4DYP7;Q96CW5	.;GCP3_HUMAN	P	865	ENSP00000261965:L865P	ENSP00000261965:L865P	L	-	2	0	TUBGCP3	112188438	1.000000	0.71417	0.310000	0.25168	0.525000	0.34531	8.470000	0.90399	1.799000	0.52666	0.533000	0.62120	CTG		0.473	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		2	9	0	0	0	0.004672	0	2	9				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	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			22	39	0	0	0	0.069288	0	22	39				
PCDH11Y	83259	broad.mit.edu	37	Y	5605958	5605958	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chrY:5605958C>T	ENST00000215473.6	+	6	3998	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1333					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGATTCCCCCATTATGGAA	0.373																																						ENST00000215473.6																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3997-3999)cCc>cTc		protocadherin 11 Y-linked							71.0	59.0	62.0					Y																	5605958		677	2038	2715	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605958C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3998C>T	Y.37:g.5605958C>T	ENSP00000215473:p.Pro1333Leu						p.P1333L			Q9BZA8	PC11Y_HUMAN			6	3998	+			1333					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3998C>T																																																																																					0.373	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		54	5	0	0	0	0.048971	0	54	5				
HEATR3	55027	broad.mit.edu	37	16	50136288	50136288	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr16:50136288C>T	ENST00000299192.7	+	14	2053	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	HEATR3_ENST00000285767.4_Missense_Mutation_p.S535L|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	621										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAAGAGCCTCGATTCAAATT	0.378																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1861-1863)tCg>tTg		HEAT repeat containing 3							113.0	112.0	112.0					16																	50136288		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50136288C>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1862C>T	16.37:g.50136288C>T	ENSP00000299192:p.Ser621Leu					HEATR3_ENST00000285767.4_Missense_Mutation_p.S535L|RP11-429P3.5_ENST00000566770.1_RNA	p.S621L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			14	2053	+			621					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1862C>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942127	0.73672	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.41758	0.99;1.0	5.49	5.49	0.81192	.	0.169882	0.50627	D	0.000109	T	0.25568	0.0622	N	0.22421	0.69	0.46927	D	0.999256	B;P	0.36837	0.038;0.571	B;B	0.27262	0.003;0.078	T	0.16660	-1.0395	10	0.02654	T	1	.	19.7382	0.96215	0.0:1.0:0.0:0.0	.	535;621	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	L	535;621	ENSP00000285767:S535L;ENSP00000299192:S621L	ENSP00000285767:S535L	S	+	2	0	HEATR3	48693789	1.000000	0.71417	0.927000	0.36925	0.807000	0.45602	6.802000	0.75175	2.744000	0.94065	0.650000	0.86243	TCG		0.378	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		32	84	0	0	0	0.054565	0	32	84				
OR10S1	219873	broad.mit.edu	37	11	123847515	123847515	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:123847515G>A	ENST00000531945.1	-	1	973	c.884C>T	c.(883-885)cCa>cTa	p.P295L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTGAGCATTGGAGTTACGAT	0.542																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(883-885)cCa>cTa		olfactory receptor, family 10, subfamily S, member 1							95.0	97.0	96.0					11																	123847515		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847515G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.884C>T	11.37:g.123847515G>A	ENSP00000431914:p.Pro295Leu						p.P295L	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	973	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	295					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.884C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418245	0.62622	.	.	ENSG00000196248	ENST00000531945	T	0.00337	8.05	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003539	T	0.01661	0.0053	H	0.97390	3.995	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.30937	-0.9961	10	0.87932	D	0	-22.5124	17.7412	0.88407	0.0:0.0:1.0:0.0	.	295	Q8NGN2	O10S1_HUMAN	L	295	ENSP00000431914:P295L	ENSP00000431914:P295L	P	-	2	0	OR10S1	123352725	1.000000	0.71417	0.928000	0.36995	0.361000	0.29550	5.863000	0.69568	2.521000	0.84997	0.655000	0.94253	CCA		0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		87	59	0	0	0	0.048971	0	87	59				
NPAP1	23742	broad.mit.edu	37	15	24921723	24921723	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:24921723C>T	ENST00000329468.2	+	1	1183	c.709C>T	c.(709-711)Cct>Tct	p.P237S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	237					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTTGGAAGGCCCTGCCATGCC	0.622																																						ENST00000329468.2																			0											c.(709-711)Cct>Tct		nuclear pore associated protein 1							32.0	34.0	33.0					15																	24921723		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24921723C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.709C>T	15.37:g.24921723C>T	ENSP00000333735:p.Pro237Ser						p.P237S	NM_018958.2	NP_061831.2					1	1183	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.709C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	2.861	-0.236200	0.05944	.	.	ENSG00000185823	ENST00000329468	T	0.11277	2.79	2.07	0.805	0.18703	.	2.635810	0.01565	N	0.020288	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	P	0.44816	0.844	B	0.39706	0.307	T	0.28427	-1.0044	10	0.07482	T	0.82	.	3.9687	0.09443	0.0:0.6926:0.0:0.3074	.	237	Q9NZP6	CO002_HUMAN	S	237	ENSP00000333735:P237S	ENSP00000333735:P237S	P	+	1	0	C15orf2	22472816	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.132000	0.10467	0.236000	0.21180	0.436000	0.28706	CCT		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		11	0	0	0	0	0.069234	0	11	0				
TTN	7273	broad.mit.edu	37	2	179614115	179614115	+	Intron	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:179614115G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.H4338Y|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGCACCATGCACAAATCTG	0.403																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13012-13014)Cat>Tat		titin							92.0	98.0	96.0					2																	179614115		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614115G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3735C>T	2.37:g.179614115G>A						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	p.H4338Y	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13234	-			472			Ig-like 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13012C>T		.	.	.	.	.	.	.	.	.	.	G	11.96	1.795096	0.31777	.	.	ENSG00000155657	ENST00000360870	T	0.56776	0.44	6.17	0.628	0.17681	.	.	.	.	.	T	0.25901	0.0631	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	9	0.38643	T	0.18	.	1.9602	0.03385	0.1425:0.2613:0.3553:0.2409	.	4338	Q8WZ42-6	.	Y	4338	ENSP00000354117:H4338Y	ENSP00000354117:H4338Y	H	-	1	0	TTN	179322360	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.288000	0.18939	0.443000	0.26582	-0.961000	0.02630	CAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	67	0	0	0	0.048971	0	63	67				
INSL5	10022	broad.mit.edu	37	1	67266844	67266844	+	Missense_Mutation	SNP	G	G	A	rs146406445	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:67266844G>A	ENST00000304526.2	-	1	95	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	21						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						TCCTTGCTCCGCACTTCTGAG	0.453																																						ENST00000304526.2																			0				breast(2)|endometrium(1)|lung(5)	8						c.(61-63)Cgg>Tgg		insulin-like 5		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	82.0		61	0.8	0.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	INSL5	NM_005478.4	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	21/136	67266844	2,13004	2203	4300	6503	SO:0001583	missense	10022					extracellular region	hormone activity	g.chr1:67266844G>A	AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.61C>T	1.37:g.67266844G>A	ENSP00000302724:p.Arg21Trp						p.R21W	NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN			1	95	-			21					Q3MIY4|Q5VYD8	Missense_Mutation	SNP	ENST00000304526.2	37	c.61C>T	CCDS634.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704551	0.48412	2.27E-4	1.16E-4	ENSG00000172410	ENST00000304526	D	0.84298	-1.83	4.48	0.792	0.18625	Insulin-like (2);	0.641501	0.14722	N	0.302261	T	0.77418	0.4127	L	0.42581	1.335	0.09310	N	1	D	0.76494	0.999	P	0.58970	0.849	T	0.68341	-0.5434	10	0.87932	D	0	8.1109	5.8125	0.18473	0.0:0.0892:0.3254:0.5854	.	21	Q9Y5Q6	INSL5_HUMAN	W	21	ENSP00000302724:R21W	ENSP00000302724:R21W	R	-	1	2	INSL5	67039432	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	0.896000	0.28377	-0.035000	0.13691	-0.264000	0.10439	CGG		0.453	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025403.1	NM_005478		12	20	0	0	0	0.080935	0	12	20				
FRY	10129	broad.mit.edu	37	13	32869503	32869503	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:32869503A>G	ENST00000380250.3	+	61	9444	c.8948A>G	c.(8947-8949)aAc>aGc	p.N2983S	FRY_ENST00000542859.1_Missense_Mutation_p.N353S|RP11-37E23.5_ENST00000418076.1_RNA|FRY_ENST00000380217.1_Missense_Mutation_p.N165S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2983						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGGAGCTGAACATGGAGATC	0.532																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8947-8949)aAc>aGc		furry homolog (Drosophila)							104.0	104.0	104.0					13																	32869503		1963	4141	6104	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32869503A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8948A>G	13.37:g.32869503A>G	ENSP00000369600:p.Asn2983Ser					FRY_ENST00000542859.1_Missense_Mutation_p.N353S|FRY_ENST00000380217.1_Missense_Mutation_p.N165S	p.N2983S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	61	9444	+		Lung SC(185;0.0271)	2983					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8948A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646441	0.67358	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.28666	1.6	5.57	4.4	0.53042	.	0.046469	0.85682	N	0.000000	T	0.51839	0.1698	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.49560	-0.8927	10	0.39692	T	0.17	.	11.1876	0.48666	0.9283:0.0:0.0717:0.0	.	2983	Q5TBA9	FRY_HUMAN	S	2983;353;165	ENSP00000369600:N2983S	ENSP00000369565:N165S	N	+	2	0	FRY	31767503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.146000	0.94640	0.960000	0.38005	0.528000	0.53228	AAC		0.532	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		3	52	0	0	0	0.004672	0	3	52				
GRIN2B	2904	broad.mit.edu	37	12	13716187	13716187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr12:13716187G>A	ENST00000609686.1	-	13	4194	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1329					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCATGAATCGGCCCTTGTCT	0.597																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3985-3987)Cga>Tga		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						65.0	69.0	67.0					12																	13716187		2203	4300	6503	SO:0001587	stop_gained	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716187G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3985C>T	12.37:g.13716187G>A	ENSP00000477455:p.Arg1329*						p.R1329*	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	4194	-			1329					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	ENST00000609686.1	37	c.3985C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	42	9.784731	0.99263	.	.	ENSG00000150086	ENST00000279593	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.436	0.90646	0.0:0.0:1.0:0.0	.	.	.	.	X	1329	.	ENSP00000279593:R1329X	R	-	1	2	GRIN2B	13607454	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.247000	0.78257	2.637000	0.89404	0.563000	0.77884	CGA		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			28	31	0	0	0	0.034045	0	28	31				
XRN2	22803	broad.mit.edu	37	20	21328891	21328891	+	Splice_Site	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr20:21328891G>A	ENST00000377191.3	+	18	1868	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	XRN2_ENST00000539513.1_Splice_Site_p.P537P|XRN2_ENST00000430571.2_Splice_Site_p.P515P	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	591					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTACGAAACCGGTAAGCTTAA	0.338																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.e18+1		5'-3' exoribonuclease 2							92.0	90.0	91.0					20																	21328891		2203	4300	6503	SO:0001630	splice_region_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21328891G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1773+1G>A	20.37:g.21328891G>A						XRN2_ENST00000430571.2_Splice_Site_p.P515_splice|XRN2_ENST00000539513.1_Splice_Site_p.P537_splice	p.P591_splice	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			18	1868	+			591					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Splice_Site	SNP	ENST00000377191.3	37	c.1773_splice	CCDS13144.1																																																																																				0.338	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	Silent	3	73	0	0	0	0.004672	0	3	73				
TNFRSF11B	4982	broad.mit.edu	37	8	119945444	119945444	+	Silent	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:119945444G>A	ENST00000297350.4	-	2	504	c.126C>T	c.(124-126)gaC>gaT	p.D42D		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	42					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGACATTTGTCACACAACA	0.483																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(124-126)gaC>gaT		tumor necrosis factor receptor superfamily, member 11b							308.0	283.0	291.0					8																	119945444		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945444G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.126C>T	8.37:g.119945444G>A							p.D42D	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	504	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		42					B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.126C>T	CCDS6326.1																																																																																				0.483	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			91	119	0	0	0	0.048971	0	91	119				
GPR98	84059	broad.mit.edu	37	5	90000251	90000251	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:90000251A>T	ENST00000405460.2	+	36	8428	c.8332A>T	c.(8332-8334)Att>Ttt	p.I2778F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2778	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				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)		GGATGACAACATTCCTGAGGA	0.333																																						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.(8332-8334)Att>Ttt		G protein-coupled receptor 98							129.0	115.0	120.0					5																	90000251		1857	4097	5954	SO:0001583	missense	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.chr5:90000251A>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.8332A>T	5.37:g.90000251A>T	ENSP00000384582:p.Ile2778Phe						p.I2778F	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)	36	8428	+		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)	2778			Calx-beta 19.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8332A>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027602	0.54790	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.30448	1.53	4.89	2.5	0.30297	.	0.148707	0.64402	D	0.000012	T	0.33323	0.0859	M	0.63428	1.95	0.80722	D	1	P;P	0.41710	0.76;0.76	B;B	0.43478	0.418;0.421	T	0.09662	-1.0664	10	0.87932	D	0	.	9.227	0.37414	0.852:0.0:0.148:0.0	.	2778;2778	E7ETI5;Q8WXG9	.;GPR98_HUMAN	F	2778	ENSP00000384582:I2778F	ENSP00000296619:I2778F	I	+	1	0	GPR98	90036007	0.962000	0.33011	0.989000	0.46669	0.977000	0.68977	2.220000	0.42908	0.356000	0.24157	0.533000	0.62120	ATT		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	3	0	0	0	0.014758	0	4	3				
CACNA1G	8913	broad.mit.edu	37	17	48669423	48669423	+	Silent	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:48669423C>T	ENST00000359106.5	+	13	2880	c.2880C>T	c.(2878-2880)gtC>gtT	p.V960V	CACNA1G_ENST00000360761.4_Silent_p.V960V|CACNA1G_ENST00000354983.4_Silent_p.V960V|CACNA1G_ENST00000510366.1_Silent_p.V960V|CACNA1G_ENST00000515165.1_Silent_p.V960V|CACNA1G_ENST00000503485.1_Silent_p.V960V|CACNA1G_ENST00000507510.2_Silent_p.V960V|CACNA1G_ENST00000510115.1_Silent_p.V960V|CACNA1G_ENST00000512389.1_Silent_p.V960V|CACNA1G_ENST00000507896.1_Silent_p.V960V|CACNA1G_ENST00000442258.2_Silent_p.V960V|CACNA1G_ENST00000514717.1_Silent_p.V960V|CACNA1G_ENST00000515411.1_Silent_p.V960V|CACNA1G_ENST00000505165.1_Silent_p.V960V|CACNA1G_ENST00000358244.5_Silent_p.V960V|CACNA1G_ENST00000513964.1_Silent_p.V960V|CACNA1G_ENST00000513689.2_Silent_p.V960V|CACNA1G_ENST00000507609.1_Silent_p.V960V|CACNA1G_ENST00000507336.1_Silent_p.V960V|CACNA1G_ENST00000515765.1_Silent_p.V960V|CACNA1G_ENST00000352832.5_Silent_p.V960V|CACNA1G_ENST00000502264.1_Silent_p.V960V|CACNA1G_ENST00000514181.1_Silent_p.V960V|CACNA1G_ENST00000416767.4_Silent_p.V960V|CACNA1G_ENST00000429973.2_Silent_p.V960V|CACNA1G_ENST00000514079.1_Silent_p.V960V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	960					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTTGCTGGTCGCCATTCTGG	0.572																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2878-2880)gtC>gtT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						60.0	65.0	63.0					17																	48669423		2050	4189	6239	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48669423C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2880C>T	17.37:g.48669423C>T						CACNA1G_ENST00000514079.1_Silent_p.V960V|CACNA1G_ENST00000507336.1_Silent_p.V960V|CACNA1G_ENST00000515765.1_Silent_p.V960V|CACNA1G_ENST00000513964.1_Silent_p.V960V|CACNA1G_ENST00000507896.1_Silent_p.V960V|CACNA1G_ENST00000510115.1_Silent_p.V960V|CACNA1G_ENST00000515165.1_Silent_p.V960V|CACNA1G_ENST00000514717.1_Silent_p.V960V|CACNA1G_ENST00000507510.2_Silent_p.V960V|CACNA1G_ENST00000513689.2_Silent_p.V960V|CACNA1G_ENST00000507609.1_Silent_p.V960V|CACNA1G_ENST00000515411.1_Silent_p.V960V|CACNA1G_ENST00000512389.1_Silent_p.V960V|CACNA1G_ENST00000505165.1_Silent_p.V960V|CACNA1G_ENST00000503485.1_Silent_p.V960V|CACNA1G_ENST00000502264.1_Silent_p.V960V|CACNA1G_ENST00000442258.2_Silent_p.V960V|CACNA1G_ENST00000429973.2_Silent_p.V960V|CACNA1G_ENST00000416767.4_Silent_p.V960V|CACNA1G_ENST00000510366.1_Silent_p.V960V|CACNA1G_ENST00000360761.4_Silent_p.V960V|CACNA1G_ENST00000359106.5_Silent_p.V960V|CACNA1G_ENST00000358244.5_Silent_p.V960V|CACNA1G_ENST00000354983.4_Silent_p.V960V|CACNA1G_ENST00000514181.1_Silent_p.V960V	p.V960V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		13	3252	+	Breast(11;6.7e-17)		960					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.2880C>T	CCDS45730.1																																																																																				0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		15	20	0	0	0	0.038395	0	15	20				
UNC79	57578	broad.mit.edu	37	14	94088798	94088798	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr14:94088798C>A	ENST00000393151.2	+	30	5219	c.5219C>A	c.(5218-5220)cCa>cAa	p.P1740Q	UNC79_ENST00000256339.4_Missense_Mutation_p.P1563Q|UNC79_ENST00000555664.1_Missense_Mutation_p.P1740Q|UNC79_ENST00000553484.1_Missense_Mutation_p.P1762Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1740					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCGGTAGCCCACTGACGCTG	0.582																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5284-5286)cCa>cAa		unc-79 homolog (C. elegans)							67.0	71.0	70.0					14																	94088798		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088798C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5219C>A	14.37:g.94088798C>A	ENSP00000376858:p.Pro1740Gln					UNC79_ENST00000393151.2_Missense_Mutation_p.P1740Q|UNC79_ENST00000256339.4_Missense_Mutation_p.P1563Q|UNC79_ENST00000555664.1_Missense_Mutation_p.P1740Q	p.P1762Q			Q9P2D8	UNC79_HUMAN			31	5439	+			1740					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5285C>A		.	.	.	.	.	.	.	.	.	.	C	13.51	2.258257	0.39896	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18960	2.2;2.18;2.2;2.2	5.2	5.2	0.72013	.	0.054303	0.64402	D	0.000001	T	0.23886	0.0578	L	0.29908	0.895	0.49051	D	0.99974	P	0.36909	0.573	B	0.41894	0.369	T	0.04103	-1.0977	10	0.72032	D	0.01	-16.2382	18.72	0.91689	0.0:1.0:0.0:0.0	.	1762	C9JQL1	.	Q	1563;1740;1762;1740;1762	ENSP00000256339:P1563Q;ENSP00000450868:P1740Q;ENSP00000451360:P1762Q;ENSP00000376858:P1740Q	ENSP00000256339:P1563Q	P	+	2	0	KIAA1409	93158551	1.000000	0.71417	0.949000	0.38748	0.599000	0.36880	4.481000	0.60250	2.433000	0.82419	0.305000	0.20034	CCA		0.582	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	88	1	0	0.00909568	0.009096	0.00965256	4	88				
EPHB6	2051	broad.mit.edu	37	7	142564303	142564303	+	Silent	SNP	G	G	A	rs111424188		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:142564303G>A	ENST00000392957.2	+	10	2314	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P	EPHB6_ENST00000411471.2_Silent_p.P232P|EPHB6_ENST00000442129.1_Silent_p.P509P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTCCTGGCCGCAGCCCGACC	0.582																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1525-1527)ccG>ccA		EPH receptor B6							75.0	74.0	75.0					7																	142564303		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564303G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1527G>A	7.37:g.142564303G>A						EPHB6_ENST00000411471.2_Silent_p.P232P|EPHB6_ENST00000442129.1_Silent_p.P509P	p.P509P	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			10	2314	+	Melanoma(164;0.059)		509			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1527G>A	CCDS5873.2																																																																																				0.582	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			3	64	0	0	0	0.009096	0	3	64				
DIS3L2	129563	broad.mit.edu	37	2	233028242	233028242	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:233028242G>A	ENST00000409307.1	+	8	1024	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	DIS3L2_ENST00000273009.6_Missense_Mutation_p.V342M|DIS3L2_ENST00000325385.7_Missense_Mutation_p.V342M					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGTATGGCGTGGATTTCTC	0.453																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1024-1026)Gtg>Atg		DIS3 mitotic control homolog (S. cerevisiae)-like 2							117.0	122.0	120.0					2																	233028242		1879	4114	5993	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233028242G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1024G>A	2.37:g.233028242G>A	ENSP00000386799:p.Val342Met					DIS3L2_ENST00000409307.1_Missense_Mutation_p.V342M|DIS3L2_ENST00000273009.6_Missense_Mutation_p.V342M	p.V342M	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	9	1300	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	342						Missense_Mutation	SNP	ENST00000409307.1	37	c.1024G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561973	0.86335	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307	T;T;T	0.46819	1.43;0.86;0.86	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.74007	0.3660	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.78959	-0.1998	10	0.72032	D	0.01	-15.484	19.082	0.93186	0.0:0.0:1.0:0.0	.	342	Q8IYB7	DI3L2_HUMAN	M	342	ENSP00000273009:V342M;ENSP00000315569:V342M;ENSP00000386799:V342M	ENSP00000273009:V342M	V	+	1	0	DIS3L2	232736486	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	8.007000	0.88571	2.491000	0.84063	0.557000	0.71058	GTG		0.453	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		14	37	0	0	0	0.020292	0	14	37				
HRNR	388697	broad.mit.edu	37	1	152187067	152187067	+	Silent	SNP	A	A	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152187067A>T	ENST00000368801.2	-	3	7113	c.7038T>A	c.(7036-7038)tcT>tcA	p.S2346S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2346					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATGAGCTAGACTCGTGGT	0.572																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(7036-7038)tcT>tcA		hornerin							460.0	722.0	633.0					1																	152187067		2184	4298	6482	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187067A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7038T>A	1.37:g.152187067A>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2346S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7113	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2346					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.7038T>A	CCDS30859.1																																																																																				0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		68	911	0	0	0	0.048971	0	68	911				
TAF1L	138474	broad.mit.edu	37	9	32630690	32630690	+	Silent	SNP	A	A	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:32630690A>G	ENST00000242310.4	-	1	4977	c.4888T>C	c.(4888-4890)Ttg>Ctg	p.L1630L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1630					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTGAGTCAAATGCTCATCA	0.433																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4888-4890)Ttg>Ctg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							139.0	133.0	135.0					9																	32630690		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630690A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4888T>C	9.37:g.32630690A>G							p.L1630L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4977	-			1630					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4888T>C	CCDS35003.1																																																																																				0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			149	11	0	0	0	0.048971	0	149	11				
BFSP2	8419	broad.mit.edu	37	3	133119336	133119336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:133119336C>T	ENST00000302334.2	+	1	498	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	137	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AACACAACTGCGGATGCACCT	0.607																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(409-411)Cgg>Tgg		beaded filament structural protein 2, phakinin							39.0	46.0	43.0					3																	133119336		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119336C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.409C>T	3.37:g.133119336C>T	ENSP00000304987:p.Arg137Trp						p.R137W	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	498	+			137			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.409C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156862	0.57259	.	.	ENSG00000170819	ENST00000302334	D	0.89485	-2.52	5.84	1.5	0.22942	Filament (1);	0.000000	0.56097	D	0.000027	D	0.93383	0.7890	M	0.70903	2.155	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	D	0.94132	0.7389	10	0.87932	D	0	-35.1312	16.4964	0.84246	0.6071:0.3929:0.0:0.0	.	137	Q13515	BFSP2_HUMAN	W	137	ENSP00000304987:R137W	ENSP00000304987:R137W	R	+	1	2	BFSP2	134602026	0.933000	0.31639	0.063000	0.19743	0.865000	0.49528	0.436000	0.21526	0.750000	0.32877	0.563000	0.77884	CGG		0.607	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			18	28	0	0	0	0.043863	0	18	28				
MTOR	2475	broad.mit.edu	37	1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:11177096C>T	ENST00000361445.4	-	50	7057	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2327	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAACCATTGACATGACCGCTA	0.383																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6979-6981)atG>atA		mechanistic target of rapamycin (serine/threonine kinase)							152.0	144.0	147.0					1																	11177096		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11177096C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6981G>A	1.37:g.11177096C>T	ENSP00000354558:p.Met2327Ile					MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	p.M2327I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			50	7057	-			2327			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6981G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107034	0.94292	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.69	5.69	0.88448	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90869	0.4744	10	0.87932	D	0	-22.7563	18.7966	0.91997	0.0:1.0:0.0:0.0	.	2327	P42345	MTOR_HUMAN	I	2327;532	ENSP00000354558:M2327I;ENSP00000366034:M532I	ENSP00000354558:M2327I	M	-	3	0	MTOR	11099683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.266000	0.78452	2.687000	0.91594	0.462000	0.41574	ATG		0.383	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		33	11	0	0	0	0.064281	0	33	11				
PROSC	11212	broad.mit.edu	37	8	37623846	37623846	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:37623846C>G	ENST00000328195.3	+	4	359	c.292C>G	c.(292-294)Cag>Gag	p.Q98E		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	98					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TGGCCACCTACAGAAACAAAA	0.358																																						ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(292-294)Cag>Gag		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						169.0	172.0	171.0					8																	37623846		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37623846C>G	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.292C>G	8.37:g.37623846C>G	ENSP00000333551:p.Gln98Glu						p.Q98E	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		4	359	+		Lung NSC(58;0.174)	98					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.292C>G	CCDS6096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.773107|4.773107	0.90108|0.90108	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195;ENST00000523358;ENST00000523187;ENST00000523521|ENST00000521494	T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Alanine racemase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91439|.	0.7298|.	H|H	0.99182|0.99182	4.46|4.46	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.97110|.	1.0|.	D|.	0.95096|.	0.8226|.	10|.	0.87932|.	D|.	0|.	-21.3973|-21.3973	18.5344|18.5344	0.91004|0.91004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	98|.	O94903|.	PROSC_HUMAN|.	E|X	98;98;46;17|66	ENSP00000333551:Q98E;ENSP00000427778:Q98E;ENSP00000427886:Q46E;ENSP00000429425:Q17E|.	ENSP00000333551:Q98E|.	Q|Y	+|+	1|3	0|2	PROSC|PROSC	37743004|37743004	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	7.601000|7.601000	0.82783|0.82783	2.455000|2.455000	0.83008|0.83008	0.655000|0.655000	0.94253|0.94253	CAG|TAC		0.358	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		53	86	0	0	0	0.048971	0	53	86				
GLIS3	169792	broad.mit.edu	37	9	3829411	3829411	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:3829411C>G	ENST00000324333.10	-	9	2283	c.2090G>C	c.(2089-2091)aGt>aCt	p.S697T	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S852T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	697					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCACCACACTGCAGGAGCT	0.542																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2089-2091)aGt>aCt		GLIS family zinc finger 3							111.0	93.0	99.0					9																	3829411		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829411C>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2090G>C	9.37:g.3829411C>G	ENSP00000325494:p.Ser697Thr					GLIS3_ENST00000381971.3_Missense_Mutation_p.S852T|GLIS3_ENST00000461870.1_5'UTR	p.S697T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2283	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	697					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.2090G>C	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691880	0.48097	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11169	2.82;2.8	5.93	1.61	0.23674	.	0.111593	0.38837	N	0.001545	T	0.06826	0.0174	L	0.27053	0.805	0.30561	N	0.764482	B;B;B	0.30361	0.161;0.277;0.181	B;B;B	0.27380	0.079;0.079;0.036	T	0.15809	-1.0424	10	0.37606	T	0.19	.	8.2708	0.31842	0.0:0.4993:0.0:0.5007	.	292;852;697	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	T	697;852	ENSP00000325494:S697T;ENSP00000371398:S852T	ENSP00000325494:S697T	S	-	2	0	GLIS3	3819411	0.625000	0.27111	0.703000	0.30354	0.981000	0.71138	0.858000	0.27845	0.432000	0.26286	0.563000	0.77884	AGT		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		38	1	0	0	0	0.074837	0	38	1				
RELN	5649	broad.mit.edu	37	7	103180840	103180840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:103180840G>A	ENST00000428762.1	-	44	6893	c.6734C>T	c.(6733-6735)cCc>cTc	p.P2245L	RELN_ENST00000343529.5_Missense_Mutation_p.P2245L|RELN_ENST00000424685.2_Missense_Mutation_p.P2245L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2245					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)		TAGGAGCACGGGTTGACTCCT	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			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.(6733-6735)cCc>cTc		reelin							113.0	108.0	110.0					7																	103180840		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.chr7:103180840G>A		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.6734C>T	7.37:g.103180840G>A	ENSP00000392423:p.Pro2245Leu					RELN_ENST00000428762.1_Missense_Mutation_p.P2245L|RELN_ENST00000343529.5_Missense_Mutation_p.P2245L	p.P2245L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6893	-			2245					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6734C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239921	0.39598	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23950	1.88;1.88;1.88	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.51422	1.61	0.80722	D	1	P;B	0.34780	0.468;0.006	B;B	0.39027	0.288;0.017	T	0.03545	-1.1026	10	0.44086	T	0.13	.	19.6264	0.95679	0.0:0.0:1.0:0.0	.	2245;2245	P78509-2;P78509	.;RELN_HUMAN	L	2245	ENSP00000392423:P2245L;ENSP00000345694:P2245L;ENSP00000388446:P2245L	ENSP00000345694:P2245L	P	-	2	0	RELN	102968076	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	9.173000	0.94815	2.717000	0.92951	0.655000	0.94253	CCC		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		52	39	0	0	0	0.048971	0	52	39				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	4						4	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	3						5	3	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703														853	0.170327	0.0242	0.2262	5008	,	,		13338	0.1726		0.2674	False		,,,				2504	0.226					ENST00000378016.2																			0													SCO-spondin				151,3337		13,125,1606						-6.4	0.0		dbSNP_129	6	1814,5686		323,1168,2259	no	intron	SSPO	NM_198455.2		336,1293,3865	A1A1,A1R,RR		24.1867,4.3291,17.8831				1965,9023						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149499116_149499117delAT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149499116_149499117delAT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7495	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.703	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	4						8	4	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32955602	32955603	+	In_Frame_Ins	INS	-	-	ATT			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:32955602_32955603insATT	ENST00000399302.2	+	4	2746_2747	c.2411_2412insATT	c.(2410-2415)ccatta>ccATTatta	p.805_806insL	QSER1_ENST00000527788.1_In_Frame_Ins_p.566_567insL	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	805										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCAAAACCATTACAACAAC	0.376																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(2410-2412)ctt>cATTtt		glutamine and serine rich 1																																				SO:0001652	inframe_insertion	79832							g.chr11:32955602_32955603insATT	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2412_2414dupATT	11.37:g.32955603_32955605dupATT	ENSP00000382241:p.Leu805_Leu805dup					QSER1_ENST00000527788.1_In_Frame_Ins_p.565_565L>HF	p.804_804L>HF	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	2746_2747	+	Breast(20;0.158)		804					Q6ZU30|Q6ZUR5	In_Frame_Ins	INS	ENST00000399302.2	37	c.2411_2412insATT	CCDS41631.1																																																																																				0.376	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		39	112						39	112	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	4						4	4	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		3	5						3	5	---	---	---	---
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796321	42796322	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr19:42796321_42796322delCT	ENST00000575354.2	+	12	3010_3011	c.2970_2971delCT	c.(2968-2973)acctctfs	p.S991fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.S1900fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S991fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	991	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGGACCCACCTCTCAGCCTCA	0.663			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5695-5700)acctfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796321_42796322delCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2970_2971delCT	19.37:g.42796323_42796324delCT	ENSP00000458663:p.Ser991fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.TS990fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.TS990fs	p.TS1899fs			Q96RK0	CIC_HUMAN			13	5765_5766	+		Prostate(69;0.00682)	990					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5697_5698delCT	CCDS12601.1																																																																																				0.663	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			24	9						24	9	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	6						5	6	---	---	---	---
