#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
OXGR1	27199	broad.mit.edu	37	13	97639669	97639669	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr13:97639669G>T	ENST00000298440.1	-	4	588	c.345C>A	c.(343-345)ttC>ttA	p.F115L	OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATACAGGTTGAAATGGAAGC	0.453																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(343-345)ttC>ttA		oxoglutarate (alpha-ketoglutarate) receptor 1							79.0	68.0	72.0					13																	97639669		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639669G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.345C>A	13.37:g.97639669G>T	ENSP00000298440:p.Phe115Leu					OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	588	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		115					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.345C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417331	0.62622	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.70045	-0.45;-0.45	5.56	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.056655	0.64402	D	0.000001	T	0.45438	0.1342	N	0.05230	-0.09	0.33031	D	0.53018	P	0.43431	0.807	P	0.45276	0.475	T	0.52109	-0.8619	10	0.13470	T	0.59	.	10.7654	0.46291	0.205:0.0:0.795:0.0	.	115	Q96P68	OXGR1_HUMAN	L	115	ENSP00000298440:F115L;ENSP00000438800:F115L	ENSP00000298440:F115L	F	-	3	2	OXGR1	96437670	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.362000	0.52314	0.317000	0.23160	0.655000	0.94253	TTC		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		3	55	1	0	0.150653	1	0.153123	3	55				
NUGGC	389643	broad.mit.edu	37	8	27891083	27891083	+	Silent	SNP	G	G	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:27891083G>T	ENST00000413272.2	-	14	1885	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	NUGGC_ENST00000341513.6_Silent_p.I581I	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	581					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AAACAGGGTCGATCTGGTCAT	0.453																																						ENST00000413272.2																			0											c.(1741-1743)atC>atA		nuclear GTPase, germinal center associated							80.0	73.0	76.0					8																	27891083		1893	4110	6003	SO:0001819	synonymous_variant	389643							g.chr8:27891083G>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1743C>A	8.37:g.27891083G>T						NUGGC_ENST00000341513.6_Silent_p.I581I	p.I581I	NM_001010906.1	NP_001010906.1					14	1885	-								Q6ZP73	Silent	SNP	ENST00000413272.2	37	c.1743C>A	CCDS47833.1																																																																																				0.453	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		3	38	1	0	1.23904e-05	1	1.32449e-05	3	38				
PRKDC	5591	broad.mit.edu	37	8	48792204	48792204	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	ENST00000314191.2	-	40	5136	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1695					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AATGGAAGAAGAGTGACAGCT	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5080-5082)Ctt>Gtt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							31.0	32.0	32.0					8																	48792204		1988	4157	6145	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48792204G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5080C>G	8.37:g.48792204G>C	ENSP00000313420:p.Leu1694Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V|PRKDC_ENST00000523565.1_5'UTR	p.L1694V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			40	5136	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1695					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5080C>G		.	.	.	.	.	.	.	.	.	.	G	12.55	1.971555	0.34754	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66995	-0.24;-0.24	5.87	3.86	0.44501	Armadillo-type fold (1);	0.226106	0.38605	N	0.001622	T	0.59865	0.2225	L	0.49126	1.545	0.30842	N	0.735554	B;B	0.20261	0.043;0.043	B;B	0.15870	0.014;0.014	T	0.59118	-0.7514	10	0.40728	T	0.16	.	13.1534	0.59503	0.0:0.0:0.5132:0.4868	.	1694;1695	E7EUY0;P78527	.;PRKDC_HUMAN	V	1694	ENSP00000313420:L1694V;ENSP00000345182:L1694V	ENSP00000313420:L1694V	L	-	1	0	PRKDC	48954757	1.000000	0.71417	0.650000	0.29550	0.979000	0.70002	3.243000	0.51392	0.763000	0.33175	0.585000	0.79938	CTT		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	17	0	0	0	1	0	4	17				
STRAP	11171	broad.mit.edu	37	12	16036493	16036493	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	ENST00000419869.2	+	2	444	c.131G>A	c.(130-132)cGc>cAc	p.R44H	STRAP_ENST00000025399.6_Missense_Mutation_p.R57H|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	44					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(130-132)cGc>cAc		serine/threonine kinase receptor associated protein							73.0	65.0	68.0					12																	16036493		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16036493G>A	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.131G>A	12.37:g.16036493G>A	ENSP00000392270:p.Arg44His					STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.R57H	p.R44H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			2	444	+		Hepatocellular(102;0.121)	44					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.131G>A	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042064	0.93685	.	.	ENSG00000023734	ENST00000025399;ENST00000419869	T;T	0.80994	-1.44;-1.44	4.39	4.39	0.52855	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.90416	0.4413	10	0.45353	T	0.12	-7.1768	17.5463	0.87863	0.0:0.0:1.0:0.0	.	57;44	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	H	57;44	ENSP00000025399:R57H;ENSP00000392270:R44H	ENSP00000025399:R57H	R	+	2	0	STRAP	15927760	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.595000	0.98260	2.436000	0.82500	0.655000	0.94253	CGC		0.358	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		3	53	0	0	0	1	0	3	53				
DMRTA1	63951	broad.mit.edu	37	9	22451627	22451627	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	ENST00000325870.2	+	2	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	411					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1231-1233)cCt>cTt		DMRT-like family A1							114.0	120.0	118.0					9																	22451627		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451627C>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1232C>T	9.37:g.22451627C>T	ENSP00000319651:p.Pro411Leu						p.P411L	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1457	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	411					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.1232C>T	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752197	0.89753	.	.	ENSG00000176399	ENST00000325870	T	0.62105	0.05	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83492	0.0070	10	0.87932	D	0	-20.0783	19.0887	0.93217	0.0:1.0:0.0:0.0	.	411	Q5VZB9	DMRTA_HUMAN	L	411	ENSP00000319651:P411L	ENSP00000319651:P411L	P	+	2	0	DMRTA1	22441627	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.560000	0.73950	2.801000	0.96364	0.650000	0.86243	CCT		0.408	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			29	69	0	0	0	1	0	29	69				
SOX17	64321	broad.mit.edu	37	8	55372386	55372386	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	ENST00000297316.4	+	2	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	359	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(1075-1077)gAc>gGc		SRY (sex determining region Y)-box 17							31.0	37.0	35.0					8																	55372386		2202	4300	6502	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372386A>G	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1076A>G	8.37:g.55372386A>G	ENSP00000297316:p.Asp359Gly						p.D359G	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1280	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	359			Sox C-terminal.			Missense_Mutation	SNP	ENST00000297316.4	37	c.1076A>G	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499828	0.64298	.	.	ENSG00000164736	ENST00000297316	D	0.91124	-2.79	5.09	3.88	0.44766	.	0.058457	0.64402	D	0.000004	D	0.88142	0.6357	M	0.71871	2.18	0.53688	D	0.999975	B	0.23442	0.085	B	0.26094	0.066	D	0.86395	0.1738	10	0.72032	D	0.01	.	6.6186	0.22790	0.7868:0.0:0.0758:0.1374	.	359	Q9H6I2	SOX17_HUMAN	G	359	ENSP00000297316:D359G	ENSP00000297316:D359G	D	+	2	0	SOX17	55534939	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.250000	0.78287	1.925000	0.55765	0.374000	0.22700	GAC		0.692	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			13	40	0	0	0	1	0	13	40				
ATG9A	79065	broad.mit.edu	37	2	220088460	220088460	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	ENST00000409618.1	-	10	1885	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000396761.2_Silent_p.S482S|ATG9A_ENST00000361242.4_Silent_p.S482S|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	482					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAATGGGGCTCAGCAACT	0.577																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1444-1446)agC>agT		autophagy related 9A							59.0	68.0	65.0					2																	220088460		2028	4203	6231	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088460G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1446C>T	2.37:g.220088460G>A						ATG9A_ENST00000396761.2_Silent_p.S482S|ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000361242.4_Silent_p.S482S	p.S482S			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1885	-		Renal(207;0.0474)	482					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1446C>T	CCDS42820.1																																																																																				0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	70	0	0	0	1	0	4	70				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000369339.3_Intron																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	9	59	0	0	0	1	0	9	59				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170223	20170223	+	RNA	SNP	C	C	A	rs113310994		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:20170223C>A	ENST00000338912.5	-	0	48									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		TGGGACTGGGCACCTGTGGAG	0.557																																						ENST00000338912.5																			0																				70.0	68.0	69.0					15																	20170223		1901	4114	6015			0							g.chr15:20170223C>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170223C>A														0	48	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.557	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			38	54	1	0	8.16277e-20	1	9.03736e-20	38	54				
EYA4	2070	broad.mit.edu	37	6	133783471	133783471	+	Splice_Site	SNP	A	A	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	ENST00000367895.5	+	8	901		c.e8-1		EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000525849.1_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.e8-1		eyes absent homolog 4 (Drosophila)							184.0	174.0	178.0					6																	133783471		2203	4300	6503	SO:0001630	splice_region_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783471A>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.438-1A>T	6.37:g.133783471A>T						EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000452339.2_Splice_Site		NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	8	901	+	Colorectal(23;0.221)							B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Splice_Site	SNP	ENST00000367895.5	37		CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188616	0.78789	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EYA4	133825164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.284000	0.76573	0.528000	0.53228	.		0.438	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	Intron	24	176	0	0	0	1	0	24	176				
OR52B6	340980	broad.mit.edu	37	11	5603034	5603034	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	ENST00000345043.2	+	1	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(928-930)Gtt>Att		olfactory receptor, family 52, subfamily B, member 6							204.0	186.0	192.0					11																	5603034		1927	4131	6058	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5603034G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.928G>A	11.37:g.5603034G>A	ENSP00000341581:p.Val310Ile					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.V310I	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	928	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	310					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.928G>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.426543	0.00186	.	.	ENSG00000187747	ENST00000345043	T	0.32753	1.44	4.8	-3.3	0.05003	GPCR, rhodopsin-like superfamily (1);	0.193648	0.24571	N	0.037392	T	0.07954	0.0199	N	0.02842	-0.48	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35325	-0.9793	10	0.02654	T	1	.	7.2378	0.26079	0.3837:0.1407:0.4757:0.0	.	310	Q8NGF0	O52B6_HUMAN	I	310	ENSP00000341581:V310I	ENSP00000341581:V310I	V	+	1	0	OR52B6	5559610	0.000000	0.05858	0.029000	0.17559	0.152000	0.21847	-0.941000	0.03925	-0.476000	0.06842	-1.076000	0.02234	GTT		0.443	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		60	82	0	0	0	1	0	60	82				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	12	0	0	0	1	0	5	12				
PSD3	23362	broad.mit.edu	37	8	18393449	18393449	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	ENST00000327040.8	-	16	3050	c.2948A>G	c.(2947-2949)tAt>tGt	p.Y983C	PSD3_ENST00000440756.2_Missense_Mutation_p.Y985C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	984					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2953-2955)tAt>tGt		pleckstrin and Sec7 domain containing 3							98.0	86.0	90.0					8																	18393449		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393449T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2948A>G	8.37:g.18393449T>C	ENSP00000324127:p.Tyr983Cys					PSD3_ENST00000327040.8_Missense_Mutation_p.Y983C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C	p.Y985C			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3056	-			984					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2954A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526913	0.44969	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.47177	1.55;1.54;0.85;1.54	5.8	5.8	0.92144	.	0.000000	0.41823	U	0.000801	T	0.70919	0.3279	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.954	T	0.75772	-0.3200	10	0.87932	D	0	.	14.0873	0.64964	0.0:0.0:0.0:1.0	.	983;984;449;312	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	C	983;985;205;449;312;918	ENSP00000324127:Y983C;ENSP00000401704:Y985C;ENSP00000286485:Y449C;ENSP00000430640:Y918C	ENSP00000286485:Y449C	Y	-	2	0	PSD3	18437729	1.000000	0.71417	0.041000	0.18516	0.321000	0.28281	6.367000	0.73099	2.205000	0.71048	0.533000	0.62120	TAT		0.488	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88				
KRT75	9119	broad.mit.edu	37	12	52822506	52822506	+	Missense_Mutation	SNP	C	C	T	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	ENST00000252245.5	-	6	1277	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	353	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGTCTGCCTGCGGTGACCTGC	0.547													C|||	6	0.00119808	0.0045	0.0	5008	,	,		20297	0.0		0.0	False		,,,				2504	0.0					ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1057-1059)Gca>Aca		keratin 75		C	THR/ALA	9,4397	15.5+/-35.6	0,9,2194	153.0	127.0	136.0		1057	5.4	0.1	12	dbSNP_134	136	0,8600		0,0,4300	yes	missense	KRT75	NM_004693.2	58	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging	353/552	52822506	9,12997	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52822506C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1057G>A	12.37:g.52822506C>T	ENSP00000252245:p.Ala353Thr						p.A353T	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1277	-			353			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1057G>A	CCDS8827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.116244	0.77323	0.002043	0.0	ENSG00000170454	ENST00000252245	T	0.78924	-1.22	5.42	5.42	0.78866	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000053	D	0.90909	0.7143	M	0.93241	3.395	0.49915	D	0.999838	D	0.89917	1.0	D	0.85130	0.997	D	0.92980	0.6405	10	0.87932	D	0	.	15.5774	0.76404	0.1382:0.8618:0.0:0.0	.	353	O95678	K2C75_HUMAN	T	353	ENSP00000252245:A353T	ENSP00000252245:A353T	A	-	1	0	KRT75	51108773	0.999000	0.42202	0.111000	0.21465	0.376000	0.30014	4.092000	0.57707	2.544000	0.85801	0.561000	0.74099	GCA		0.547	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		9	120	0	0	0	1	0	9	120				
UBC	7316	broad.mit.edu	37	12	125397147	125397147	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	ENST00000536769.1	-	1	2747	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.K315E|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	391	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGATGGTCTTACCAGTCAGG	0.527																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1171-1173)Aag>Gag		ubiquitin C							220.0	200.0	207.0					12																	125397147		2203	4297	6500	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397147T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1171A>G	12.37:g.125397147T>C	ENSP00000441543:p.Lys391Glu					UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000546120.1_Missense_Mutation_p.K315E	p.K391E			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		391			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1171A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262354	0.23051	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.76839	-1.05;-1.05;-1.05	3.34	3.34	0.38264	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48286	U	0.000199	T	0.79616	0.4476	M	0.75777	2.31	0.58432	D	0.999999	B	0.28605	0.217	B	0.39738	0.308	T	0.80547	-0.1334	10	0.87932	D	0	.	9.7647	0.40554	0.0:0.0:0.0:1.0	.	391	P0CG48	UBC_HUMAN	E	391;315;391;315	ENSP00000441543:K391E;ENSP00000344818:K391E;ENSP00000438394:K315E	ENSP00000344818:K391E	K	-	1	0	UBC	123963100	1.000000	0.71417	0.752000	0.31206	0.210000	0.24377	6.722000	0.74735	1.391000	0.46566	0.454000	0.30748	AAG		0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		36	510	0	0	0	1	0	36	510				
BOD1L1	259282	broad.mit.edu	37	4	13600575	13600575	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:13600575T>C	ENST00000040738.5	-	10	8084	c.7949A>G	c.(7948-7950)gAc>gGc	p.D2650G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2650						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTCACCTATGTCACACACATT	0.378																																						ENST00000040738.5																			0											c.(7948-7950)gAc>gGc		biorientation of chromosomes in cell division 1-like 1							141.0	133.0	136.0					4																	13600575		2202	4300	6502	SO:0001583	missense	259282						DNA binding	g.chr4:13600575T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7949A>G	4.37:g.13600575T>C	ENSP00000040738:p.Asp2650Gly						p.D2650G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	8084	-			2650					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7949A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092280	0.36952	.	.	ENSG00000038219	ENST00000040738	T	0.07444	3.19	5.27	4.09	0.47781	.	0.705590	0.13183	N	0.407320	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45891	-0.9230	10	0.09590	T	0.72	-1.3304	6.713	0.23288	0.0:0.1858:0.0:0.8142	.	2650	Q8NFC6	BOD1L_HUMAN	G	2650	ENSP00000040738:D2650G	ENSP00000040738:D2650G	D	-	2	0	BOD1L	13209673	0.000000	0.05858	0.002000	0.10522	0.842000	0.47809	-0.162000	0.10012	0.860000	0.35481	0.454000	0.30748	GAC		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	95	0	0	0	1	0	3	95				
TRAF7	84231	broad.mit.edu	37	16	2223509	2223509	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	ENST00000326181.6	+	11	1172	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	347					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGAGCAAGCTCAGCGAGGAC	0.682																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1039-1041)cTc>cCc		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							47.0	44.0	45.0					16																	2223509		2197	4300	6497	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223509T>C	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1040T>C	16.37:g.2223509T>C	ENSP00000318944:p.Leu347Pro						p.L347P	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			11	1172	+			347					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1040T>C	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.351122	0.61183	.	.	ENSG00000131653	ENST00000326181	T	0.54866	0.55	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	L	0.29908	0.895	0.80722	D	1	P	0.45396	0.857	P	0.50791	0.65	T	0.55964	-0.8057	10	0.66056	D	0.02	-26.712	12.9549	0.58421	0.0:0.0:0.0:1.0	.	347	Q6Q0C0	TRAF7_HUMAN	P	347	ENSP00000318944:L347P	ENSP00000318944:L347P	L	+	2	0	TRAF7	2163510	1.000000	0.71417	0.982000	0.44146	0.214000	0.24535	7.386000	0.79775	1.914000	0.55421	0.459000	0.35465	CTC		0.682	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		34	57	0	0	0	1	0	34	57				
CYP2C19	1557	broad.mit.edu	37	10	96602618	96602618	+	Missense_Mutation	SNP	G	G	A	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	ENST00000371321.3	+	7	1068	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	329			R -> H (in allele CYP2C19*18). {ECO:0000269|PubMed:16141610}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATTGAACGTGTCGTTGGC	0.498																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(985-987)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	162.0	144.0	150.0		986	1.4	0.0	10	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	missense	CYP2C19	NM_000769.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	329/491	96602618	2,13004	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96602618G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.986G>A	10.37:g.96602618G>A	ENSP00000360372:p.Arg329His					CYP2C19_ENST00000464755.1_3'UTR	p.R329H	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	7	1068	+		Colorectal(252;0.09)	329		R -> H (in allele CYP2C19*18).			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.986G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	1.069	-0.670567	0.03403	0.0	2.33E-4	ENSG00000165841	ENST00000371321	T	0.69926	-0.44	3.37	1.37	0.22104	.	0.923473	0.09030	U	0.858958	T	0.62307	0.2417	M	0.70595	2.14	0.09310	N	1	B	0.22480	0.07	B	0.12837	0.008	T	0.49698	-0.8912	10	0.33940	T	0.23	.	7.8143	0.29249	0.2267:0.0:0.7733:0.0	.	329	P33261	CP2CJ_HUMAN	H	329	ENSP00000360372:R329H	ENSP00000360372:R329H	R	+	2	0	CYP2C19	96592608	0.000000	0.05858	0.014000	0.15608	0.055000	0.15305	-4.079000	0.00299	0.061000	0.16311	-0.362000	0.07510	CGT		0.498	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		16	134	0	0	0	1	0	16	134				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	42	0	0	0	1	0	31	42				
ADAMTS5	11096	broad.mit.edu	37	21	28302301	28302301	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	ENST00000284987.5	-	7	2250	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	710	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCAATGATGCCGTCACAGCC	0.473																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2128-2130)gGc>gCc		ADAM metallopeptidase with thrombospondin type 1 motif, 5							238.0	211.0	221.0					21																	28302301		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302301C>G	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2129G>C	21.37:g.28302301C>G	ENSP00000284987:p.Gly710Ala					AP001601.2_ENST00000426771.1_RNA	p.G710A	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			7	2250	-			710			Cys-rich.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2129G>C	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770711	0.31320	.	.	ENSG00000154736	ENST00000284987	T	0.62364	0.03	5.97	4.91	0.64330	.	0.142361	0.64402	D	0.000006	T	0.61937	0.2387	M	0.84433	2.695	0.39643	D	0.970349	P	0.36144	0.539	B	0.27262	0.078	T	0.64841	-0.6312	10	0.20519	T	0.43	.	16.0833	0.81020	0.0:0.9259:0.0:0.0741	.	710	Q9UNA0	ATS5_HUMAN	A	710	ENSP00000284987:G710A	ENSP00000284987:G710A	G	-	2	0	ADAMTS5	27224172	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.714000	0.68422	2.837000	0.97791	0.655000	0.94253	GGC		0.473	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	436	0	0	0	1	0	9	436				
CA11	770	broad.mit.edu	37	19	49143394	49143394	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	ENST00000084798.4	-	4	1108	c.429C>T	c.(427-429)gcC>gcT	p.A143A	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	143						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GTTCCGAGCCGGCTCCGTCGC	0.607																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(427-429)gcC>gcT		carbonic anhydrase XI							86.0	78.0	80.0					19																	49143394		2203	4300	6503	SO:0001819	synonymous_variant	770					extracellular region		g.chr19:49143394G>A	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.429C>T	19.37:g.49143394G>A						SEC1P_ENST00000430145.2_RNA	p.A143A	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	1108	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	143					O60596|Q6FHI1|Q9UEC4	Silent	SNP	ENST00000084798.4	37	c.429C>T	CCDS12729.1																																																																																				0.607	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		6	79	0	0	0	1	0	6	79				
TRIML1	339976	broad.mit.edu	37	4	189061052	189061052	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	ENST00000332517.3	+	1	480	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	114					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(340-342)Gcc>Acc		tripartite motif family-like 1							49.0	46.0	47.0					4																	189061052		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061052G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.340G>A	4.37:g.189061052G>A	ENSP00000327738:p.Ala114Thr						p.A114T	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	480	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	114					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.340G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716050	0.30413	.	.	ENSG00000184108	ENST00000332517	T	0.61510	0.1	5.06	-2.06	0.07298	.	2.400360	0.01345	N	0.011700	T	0.47985	0.1475	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34129	-0.9841	10	0.66056	D	0.02	-0.0426	4.2848	0.10850	0.3723:0.0:0.2224:0.4053	.	114	Q8N9V2	TRIML_HUMAN	T	114	ENSP00000327738:A114T	ENSP00000327738:A114T	A	+	1	0	TRIML1	189298046	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-0.473000	0.06871	-0.224000	0.12420	GCC		0.622	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		3	48	0	0	0	1	0	3	48				
LTBR	4055	broad.mit.edu	37	12	6499942	6499942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	ENST00000228918.4	+	10	1473	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_ENST00000541102.1_Missense_Mutation_p.E240K|LTBR_ENST00000539925.1_Missense_Mutation_p.E364K	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	383					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1147-1149)Gaa>Aaa		lymphotoxin beta receptor (TNFR superfamily, member 3)							75.0	81.0	79.0					12																	6499942		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499942G>A	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1147G>A	12.37:g.6499942G>A	ENSP00000228918:p.Glu383Lys					LTBR_ENST00000539925.1_Missense_Mutation_p.E364K|LTBR_ENST00000541102.1_Missense_Mutation_p.E240K	p.E383K	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			10	1473	+			383					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.1147G>A	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773613	0.31411	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	T;T;T	0.37752	1.18;1.18;1.18	4.49	4.49	0.54785	.	1.998500	0.02320	N	0.072874	T	0.33294	0.0858	L	0.32530	0.975	0.21290	N	0.999736	P;P;P	0.41748	0.761;0.649;0.567	B;B;B	0.35182	0.197;0.097;0.086	T	0.43393	-0.9394	10	0.87932	D	0	-6.1771	12.5421	0.56177	0.0:0.0:1.0:0.0	.	364;364;383	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	K	364;383;276;240	ENSP00000440875:E364K;ENSP00000228918:E383K;ENSP00000438605:E240K	ENSP00000228918:E383K	E	+	1	0	LTBR	6370203	0.966000	0.33281	0.823000	0.32752	0.026000	0.11368	4.503000	0.60407	2.333000	0.79357	0.555000	0.69702	GAA		0.612	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			5	139	0	0	0	1	0	5	139				
SPTBN1	6711	broad.mit.edu	37	2	54859857	54859857	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	ENST00000356805.4	+	17	4000	c.3719A>G	c.(3718-3720)aAc>aGc	p.N1240S	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1227S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1240					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGATGGGAACATCAACTCA	0.507																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3679-3681)aAc>aGc		spectrin, beta, non-erythrocytic 1							124.0	109.0	114.0					2																	54859857		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859857A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3719A>G	2.37:g.54859857A>G	ENSP00000349259:p.Asn1240Ser					SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1240S	p.N1227S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		16	4065	+			1240					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3680A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169245	0.94768	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.32023	1.47;1.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.85945	2.785	0.58432	D	0.999993	P;P	0.46220	0.756;0.874	P;P	0.53760	0.461;0.734	T	0.61792	-0.6990	10	0.72032	D	0.01	.	15.5486	0.76129	1.0:0.0:0.0:0.0	.	1227;1240	Q01082-3;Q01082	.;SPTB2_HUMAN	S	1240;1227	ENSP00000349259:N1240S;ENSP00000334156:N1227S	ENSP00000334156:N1227S	N	+	2	0	SPTBN1	54713361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.081000	0.62600	0.533000	0.62120	AAC		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	51	0	0	0	1	0	3	51				
MRAP	56246	broad.mit.edu	37	21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	ENST00000399784.2	+	5	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						GGGTCCCCTCGTCAGGAGCAA	0.602																																						ENST00000399784.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(460-462)Gtc>Atc		melanocortin 2 receptor accessory protein							47.0	46.0	46.0					21																	33684248		2203	4299	6502	SO:0001583	missense	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33684248G>A	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.460G>A	21.37:g.33684248G>A	ENSP00000382684:p.Val154Ile					MRAP_ENST00000339944.4_Intron|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR	p.V154I	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN			5	647	+			154					Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	SNP	ENST00000399784.2	37	c.460G>A	CCDS13613.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866617	0.17250	.	.	ENSG00000170262	ENST00000399784;ENST00000303645	D;D	0.88046	-2.33;-2.33	4.36	-8.72	0.00845	.	.	.	.	.	T	0.72326	0.3446	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.55685	-0.8102	9	0.24483	T	0.36	-17.1272	8.494	0.33117	0.6007:0.2113:0.188:0.0	.	154	Q8TCY5	MRAP_HUMAN	I	154	ENSP00000382684:V154I;ENSP00000306697:V154I	ENSP00000306697:V154I	V	+	1	0	MRAP	32606119	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.107000	0.03316	-2.113000	0.00833	-0.736000	0.03550	GTC		0.602	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		33	45	0	0	0	1	0	33	45				
HVCN1	84329	broad.mit.edu	37	12	111099098	111099098	+	Silent	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	ENST00000356742.5	-	3	930	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_ENST00000548312.1_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P|HVCN1_ENST00000242607.8_Silent_p.P59P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	59					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(175-177)ccC>ccG		hydrogen voltage-gated channel 1							63.0	65.0	64.0					12																	111099098		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099098G>C	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.177C>G	12.37:g.111099098G>C						HVCN1_ENST00000242607.8_Silent_p.P59P|HVCN1_ENST00000548312.1_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P	p.P59P			Q96D96	HVCN1_HUMAN			3	930	-			59					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.177C>G	CCDS31900.1																																																																																				0.622	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		23	64	0	0	0	1	0	23	64				
ZSWIM4	65249	broad.mit.edu	37	19	13939496	13939496	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	ENST00000254323.2	+	12	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	689							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTGGCGGCGGAGGGAGATG	0.622																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2065-2067)cGg>cAg		zinc finger, SWIM-type containing 4							109.0	88.0	95.0					19																	13939496		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13939496G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2066G>A	19.37:g.13939496G>A	ENSP00000254323:p.Arg689Gln					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	p.R689Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		12	2255	+			689						Missense_Mutation	SNP	ENST00000254323.2	37	c.2066G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731054	0.89390	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.57907	0.45;0.37	4.87	3.83	0.44106	.	0.000000	0.49916	D	0.000140	T	0.68485	0.3006	M	0.72353	2.195	0.40700	D	0.982477	D;D	0.89917	0.998;1.0	D;D	0.75484	0.986;0.971	T	0.71869	-0.4462	10	0.87932	D	0	-34.608	10.7285	0.46083	0.0946:0.0:0.9053:0.0	.	523;689	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	689;523	ENSP00000254323:R689Q;ENSP00000405278:R523Q	ENSP00000254323:R689Q	R	+	2	0	ZSWIM4	13800496	1.000000	0.71417	0.505000	0.27651	0.868000	0.49771	7.438000	0.80431	1.040000	0.40099	0.491000	0.48974	CGG		0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	165	0	0	0	1	0	4	165				
FLNC	2318	broad.mit.edu	37	7	128492959	128492959	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	ENST00000325888.8	+	37	6343	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2028					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAACAGCCCCTTCAAGAT	0.617																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6082-6084)Ccc>Tcc		filamin C, gamma							57.0	65.0	63.0					7																	128492959		2062	4200	6262	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492959C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6082C>T	7.37:g.128492959C>T	ENSP00000327145:p.Pro2028Ser					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	p.P2028S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			37	6343	+			2028					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6082C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363932	0.95877	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84223	-1.82;-1.82	5.46	5.46	0.80206	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96223	0.9162	10	0.87932	D	0	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	1995;2028	Q14315-2;Q14315	.;FLNC_HUMAN	S	2028;1995	ENSP00000327145:P2028S;ENSP00000344002:P1995S	ENSP00000327145:P2028S	P	+	1	0	FLNC	128280195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.573000	0.86826	0.655000	0.94253	CCC		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	88	0	0	0	1	0	7	88				
DOCK1	1793	broad.mit.edu	37	10	128850979	128850979	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	ENST00000280333.6	+	22	2282	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	725					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.G725C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTACGTGGACGGTGCTGAGAA	0.433																																						ENST00000280333.6																			1	Substitution - Missense(1)	p.G725C(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(2173-2175)Ggt>Agt		dedicator of cytokinesis 1							131.0	137.0	135.0					10																	128850979		2008	4176	6184	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128850979G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2173G>A	10.37:g.128850979G>A	ENSP00000280333:p.Gly725Ser						p.G725S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	22	2282	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	725					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.2173G>A		.	.	.	.	.	.	.	.	.	.	G	5.655	0.305468	0.10678	.	.	ENSG00000150760	ENST00000280333	T	0.68181	-0.31	4.27	1.75	0.24633	.	0.252966	0.37261	N	0.002175	T	0.27241	0.0668	N	0.00483	-1.445	0.24473	N	0.994389	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30327	-0.9982	10	0.13853	T	0.58	.	8.2575	0.31765	0.8327:0.0:0.1673:0.0	.	725;725	B2RUU3;Q14185	.;DOCK1_HUMAN	S	725	ENSP00000280333:G725S	ENSP00000280333:G725S	G	+	1	0	DOCK1	128740969	0.999000	0.42202	0.969000	0.41365	0.490000	0.33462	4.108000	0.57817	0.207000	0.20607	-0.691000	0.03719	GGT		0.433	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		3	97	0	0	0	1	0	3	97				
RARS2	57038	broad.mit.edu	37	6	88229954	88229954	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	ENST00000369536.5	-	13	1101	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	352					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1054-1056)aaG>aaT		arginyl-tRNA synthetase 2, mitochondrial							200.0	191.0	194.0					6																	88229954		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229954C>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1056G>T	6.37:g.88229954C>A	ENSP00000358549:p.Lys352Asn						p.K352N	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	13	1101	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	352					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.1056G>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431134	0.12045	.	.	ENSG00000146282	ENST00000369536	T	0.62364	0.03	5.76	-2.17	0.07059	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.591382	0.19919	N	0.103138	T	0.07818	0.0196	N	0.01096	-1.015	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.42616	-0.9441	10	0.15066	T	0.55	.	5.2895	0.15719	0.3361:0.2206:0.0:0.4434	.	352	Q5T160	SYRM_HUMAN	N	352	ENSP00000358549:K352N	ENSP00000358549:K352N	K	-	3	2	RARS2	88286673	0.001000	0.12720	0.986000	0.45419	0.960000	0.62799	-0.113000	0.10774	-0.105000	0.12132	-0.977000	0.02584	AAG		0.328	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		20	137	1	0	3.08376e-08	1	3.35427e-08	20	137				
SCN3A	6328	broad.mit.edu	37	2	165948831	165948831	+	Silent	SNP	G	G	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	ENST00000360093.3	-	27	5231	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.L1580L|SCN3A_ENST00000465043.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1580					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTAGTGTCTGAGGGAGACGA	0.438																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4738-4740)ctC>ctG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						141.0	123.0	129.0					2																	165948831		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165948831G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4740C>G	2.37:g.165948831G>C						SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Silent_p.L1580L	p.L1580L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			27	5231	-			1580					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.4740C>G																																																																																					0.438	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		35	54	0	0	0	1	0	35	54				
MIDN	90007	broad.mit.edu	37	19	1255053	1255053	+	Silent	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	ENST00000591446.2	+	5	1258	c.849C>T	c.(847-849)acC>acT	p.T283T	MIDN_ENST00000300952.2_Silent_p.T283T			Q504T8	MIDN_HUMAN	midnolin	283						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAGGGACCTTCTCTGGTA	0.617																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(847-849)acC>acT		midnolin							63.0	65.0	65.0					19																	1255053		2203	4299	6502	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1255053C>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.849C>T	19.37:g.1255053C>T						MIDN_ENST00000591446.2_Silent_p.T283T	p.T283T	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1364	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	283					Q96BW8	Silent	SNP	ENST00000591446.2	37	c.849C>T	CCDS32864.1																																																																																				0.617	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			5	92	0	0	0	1	0	5	92				
DSC2	1824	broad.mit.edu	37	18	28650804	28650804	+	Missense_Mutation	SNP	G	G	A	rs180863872	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	ENST00000280904.6	-	14	2581	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	713					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0					ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2137-2139)aCg>aTg		desmocollin 2							87.0	88.0	88.0					18																	28650804		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28650804G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2138C>T	18.37:g.28650804G>A	ENSP00000280904:p.Thr713Met					DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		14	2581	-			713						Missense_Mutation	SNP	ENST00000280904.6	37	c.2138C>T	CCDS11892.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.30	3.593497	0.66219	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.58940	0.34;0.3	6.08	6.08	0.98989	.	0.000000	0.33327	N	0.005033	T	0.77032	0.4071	M	0.75615	2.305	0.47819	D	0.999529	D;D	0.89917	0.999;1.0	P;D	0.67900	0.902;0.954	T	0.75889	-0.3158	10	0.54805	T	0.06	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	713;713	Q02487;Q02487-2	DSC2_HUMAN;.	M	713;713;479;726	ENSP00000251081:T713M;ENSP00000280904:T713M	ENSP00000251081:T713M	T	-	2	0	DSC2	26904802	1.000000	0.71417	0.981000	0.43875	0.394000	0.30568	6.206000	0.72154	2.894000	0.99253	0.591000	0.81541	ACG		0.363	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		11	52	0	0	0	1	0	11	52				
LPCAT3	10162	broad.mit.edu	37	12	7083747	7083747	+	IGR	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	ENST00000261407.4	-	0	2268				EMG1_ENST00000546220.1_3'UTR|LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000261406.6_Nonsense_Mutation_p.R101*	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCCCCTGAACCGAGCTGGCTT	0.493																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							41.0	40.0	40.0					12																	7083747		1917	4119	6036	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7083747C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7083747C>T						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	334	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.493	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		15	32	0	0	0	1	0	15	32				
HCAR1	27198	broad.mit.edu	37	12	123214713	123214713	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:123214713G>A	ENST00000436083.2	-	1	677	c.174C>T	c.(172-174)gcC>gcT	p.A58A	HCAR1_ENST00000356987.2_Silent_p.A58A|HCAR1_ENST00000432564.1_Silent_p.A58A			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	58					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AATCAGCCACGGCCAAATTGA	0.542																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(172-174)gcC>gcT		hydroxycarboxylic acid receptor 1							94.0	87.0	89.0					12																	123214713		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214713G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.174C>T	12.37:g.123214713G>A						HCAR1_ENST00000436083.2_Silent_p.A58A|HCAR1_ENST00000356987.2_Silent_p.A58A	p.A58A	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	416	-			58					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.174C>T	CCDS9236.1																																																																																				0.542	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			19	26	0	0	0	1	0	19	26				
F5	2153	broad.mit.edu	37	1	169524423	169524423	+	Missense_Mutation	SNP	T	T	C	rs370875907		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	ENST00000367797.3	-	7	1316	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_ENST00000367796.3_Missense_Mutation_p.D372G|F5_ENST00000546081.1_Missense_Mutation_p.D235G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	372	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1114-1116)gAc>gGc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						207.0	191.0	196.0					1																	169524423		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524423T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1115A>G	1.37:g.169524423T>C	ENSP00000356771:p.Asp372Gly					F5_ENST00000546081.1_Missense_Mutation_p.D235G|F5_ENST00000367797.3_Missense_Mutation_p.D372G	p.D372G			P12259	FA5_HUMAN			7	1316	-	all_hematologic(923;0.208)		372			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1115A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676602	0.88445	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99089	-5.41;-5.41;-5.41	5.78	5.78	0.91487	Cupredoxin (2);	0.048257	0.85682	D	0.000000	D	0.98905	0.9629	M	0.75447	2.3	0.46774	D	0.999193	D	0.76494	0.999	P	0.58820	0.846	D	0.99601	1.0978	9	0.72032	D	0.01	.	16.109	0.81247	0.0:0.0:0.0:1.0	.	372	P12259	FA5_HUMAN	G	372;372;235	ENSP00000356771:D372G;ENSP00000356770:D372G;ENSP00000439664:D235G	ENSP00000356770:D372G	D	-	2	0	F5	167791047	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.954000	0.76001	2.210000	0.71456	0.528000	0.53228	GAC		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	183	0	0	0	1	0	30	183				
XIRP1	165904	broad.mit.edu	37	3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	rs371572701		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.R1193W(1)	endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3577-3579)Cgg>Tgg		xin actin-binding repeat containing 1		G	,TRP/ARG	0,4402		0,0,2201	21.0	25.0	24.0		,3577	-0.5	0.0	3		24	1,8599		0,1,4299	no	intron,missense	XIRP1	NM_001198621.1,NM_194293.2	,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1193/1844	39227360	1,13001	2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227360G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3577C>T	3.37:g.39227360G>A	ENSP00000343140:p.Arg1193Trp					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	p.R1193W	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3805	-			1193					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3577C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127172	0.20959	0.0	1.16E-4	ENSG00000168334	ENST00000340369	T	0.03745	3.82	4.57	-0.46	0.12175	.	0.830318	0.10387	N	0.680851	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46638	-0.9177	10	0.40728	T	0.16	.	7.4287	0.27115	0.518:0.0:0.482:0.0	.	1193	Q702N8	XIRP1_HUMAN	W	1193	ENSP00000343140:R1193W	ENSP00000343140:R1193W	R	-	1	2	XIRP1	39202364	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-0.345000	0.07770	-0.208000	0.10171	0.561000	0.74099	CGG		0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	39	0	0	0	1	0	5	39				
PPM1B	5495	broad.mit.edu	37	2	44457550	44457550	+	Splice_Site	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	ENST00000282412.4	+	6	1546		c.e6-1		PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000345249.4_Splice_Site	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393																																						ENST00000282412.4																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.e6-1		protein phosphatase, Mg2+/Mn2+ dependent, 1B							78.0	90.0	86.0					2																	44457550		2203	4300	6503	SO:0001630	splice_region_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457550A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1135-1A>G	2.37:g.44457550A>G						PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000345249.4_Splice_Site|PPM1B_ENST00000378540.4_Intron		NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN			6	1546	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Splice_Site	SNP	ENST00000282412.4	37		CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604106	0.46423	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	.	.	.	5.09	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9477	0.29995	0.8434:0.0:0.1566:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPM1B	44311054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.061000	0.64319	2.034000	0.60081	0.482000	0.46254	.		0.393	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	Intron	3	86	0	0	0	1	0	3	86				
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	ENST00000575354.2	+	20	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L	CIC_ENST00000572681.2_Missense_Mutation_p.R2418L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				TTGAAGATCCGTGAGGTGCGC	0.627			"""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.(7252-7254)cGt>cTt		capicua transcriptional repressor							51.0	51.0	51.0					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>T	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.4535G>T	19.37:g.42799051G>T	ENSP00000458663:p.Arg1512Leu					CIC_ENST00000575354.2_Missense_Mutation_p.R1512L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	p.R2418L			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488509	0.84854	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.64875	0.2638	L	0.29908	0.895	0.48901	D	0.999725	D	0.65815	0.995	D	0.70227	0.968	T	0.68712	-0.5336	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	L	1512	.	ENSP00000160740:R1512L	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			52	25	1	0	2.53126e-37	1	2.85342e-37	52	25				
IGHV3-13	28449	broad.mit.edu	37	14	106586332	106586332	+	RNA	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr14:106586332G>A	ENST00000390602.2	-	0	232									immunoglobulin heavy variable 3-13																		AGTGCATGTCGTAGCTACTGA	0.582																																						ENST00000390602.2																			0																				99.0	93.0	95.0					14																	106586332		1903	4123	6026			0							g.chr14:106586332G>A	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586332G>A														0	232	-									RNA	SNP	ENST00000390602.2	37																																																																																						0.582	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		5	169	0	0	0	1	0	5	169				
DMTN	2039	broad.mit.edu	37	8	21927431	21927431	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:21927431C>T	ENST00000523266.1	+	7	896	c.434C>T	c.(433-435)cCc>cTc	p.P145L	DMTN_ENST00000415253.1_Missense_Mutation_p.P145L|DMTN_ENST00000265800.5_Missense_Mutation_p.P145L|DMTN_ENST00000432128.1_Missense_Mutation_p.P145L|DMTN_ENST00000519907.1_Missense_Mutation_p.P145L|DMTN_ENST00000517600.1_Missense_Mutation_p.P105L|DMTN_ENST00000443491.2_Missense_Mutation_p.P120L|DMTN_ENST00000381470.3_Missense_Mutation_p.P145L|DMTN_ENST00000523782.2_Missense_Mutation_p.P120L|DMTN_ENST00000358242.3_Missense_Mutation_p.P145L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	145					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AAGAAGCCTCCCATCTATAAG	0.642																																						ENST00000358242.3																			0											c.(433-435)cCc>cTc		dematin actin binding protein							100.0	97.0	98.0					8																	21927431		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21927431C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.434C>T	8.37:g.21927431C>T	ENSP00000427866:p.Pro145Leu					DMTN_ENST00000265800.5_Missense_Mutation_p.P145L|DMTN_ENST00000517600.1_Missense_Mutation_p.P105L|DMTN_ENST00000381470.3_Missense_Mutation_p.P145L|DMTN_ENST00000519907.1_Missense_Mutation_p.P145L|DMTN_ENST00000415253.1_Missense_Mutation_p.P145L|DMTN_ENST00000443491.2_Missense_Mutation_p.P120L|DMTN_ENST00000432128.1_Missense_Mutation_p.P145L|DMTN_ENST00000523782.2_Missense_Mutation_p.P120L|DMTN_ENST00000523266.1_Missense_Mutation_p.P145L	p.P145L							7	927	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.434C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977057	0.92982	.	.	ENSG00000158856	ENST00000523300;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	D;T;T;T;T;D;D;T;T;T;T;T;T;T	0.83755	-1.76;1.45;1.45;1.45;1.45;-1.76;-1.76;1.63;1.45;1.63;1.45;1.45;1.45;1.45	4.78	4.78	0.61160	.	0.059630	0.64402	N	0.000002	D	0.88880	0.6557	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.997;0.997;0.997;0.998	D	0.90014	0.4123	10	0.87932	D	0	.	15.6518	0.77104	0.0:1.0:0.0:0.0	.	84;105;145;120;120;145	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	120;145;145;120;105;105;120;120;145;145;84;145;145;145;145;145	ENSP00000429116:P120L;ENSP00000370879:P145L;ENSP00000416111:P145L;ENSP00000397904:P120L;ENSP00000430618:P105L;ENSP00000428733:P120L;ENSP00000430382:P120L;ENSP00000428415:P145L;ENSP00000265800:P145L;ENSP00000429948:P145L;ENSP00000350977:P145L;ENSP00000401291:P145L;ENSP00000427866:P145L;ENSP00000429377:P145L	ENSP00000265800:P145L	P	+	2	0	EPB49	21983377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.452000	0.66638	2.369000	0.80426	0.511000	0.50034	CCC		0.642	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		7	122	0	0	0	1	0	7	122				
DHODH	1723	broad.mit.edu	37	16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	rs200181357		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	ENST00000219240.4	+	7	911	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.R297H	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGTGCCCTGCGCTCTGAAACA	0.562																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(889-891)cGc>cAc		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)	G	HIS/ARG	1,3845		0,1,1922	44.0	45.0	45.0		890	4.6	1.0	16		45	8,8262		0,8,4127	yes	missense	DHODH	NM_001361.4	29	0,9,6049	AA,AG,GG		0.0967,0.026,0.0743	probably-damaging	297/396	72057134	9,12107	1923	4135	6058	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057134G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.890G>A	16.37:g.72057134G>A	ENSP00000219240:p.Arg297His					DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000219240.4_Missense_Mutation_p.R297H	p.R297H			Q02127	PYRD_HUMAN			7	1067	+		Ovarian(137;0.125)	297					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.890G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035191	0.54896	2.6E-4	9.67E-4	ENSG00000102967	ENST00000219240	D	0.85258	-1.96	5.59	4.62	0.57501	Aldolase-type TIM barrel (1);	0.391760	0.29775	N	0.011234	T	0.79118	0.4392	L	0.48642	1.525	0.45205	D	0.998212	B	0.25390	0.125	B	0.15052	0.012	T	0.75966	-0.3131	10	0.49607	T	0.09	-0.3484	10.1455	0.42760	0.0712:0.1378:0.791:0.0	.	297	Q02127	PYRD_HUMAN	H	297	ENSP00000219240:R297H	ENSP00000219240:R297H	R	+	2	0	DHODH	70614635	0.967000	0.33354	1.000000	0.80357	0.904000	0.53231	2.880000	0.48530	1.458000	0.47871	0.561000	0.74099	CGC		0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		4	88	0	0	0	1	0	4	88				
FCHO1	23149	broad.mit.edu	37	19	17886277	17886277	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	ENST00000596536.1	+	15	1241	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000594202.1_Missense_Mutation_p.V320M|FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	320	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(958-960)Gtg>Atg		FCH domain only 1							94.0	93.0	93.0					19																	17886277		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17886277G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.958G>A	19.37:g.17886277G>A	ENSP00000470731:p.Val320Met		OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000596536.1_Missense_Mutation_p.V320M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M	p.V320M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			15	1237	+			320					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.958G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045672	0.55110	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.49720	0.77;0.77;0.77	4.23	4.23	0.50019	.	0.780481	0.11151	N	0.594146	T	0.66607	0.2806	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.60469	-0.7257	10	0.33940	T	0.23	-19.8383	14.4506	0.67382	0.0:0.0:1.0:0.0	.	270;320;320	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	M	320	ENSP00000252771:V320M;ENSP00000373785:V320M;ENSP00000437978:V320M	ENSP00000252771:V320M	V	+	1	0	FCHO1	17747277	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.304000	0.89958	2.075000	0.62263	0.491000	0.48974	GTG		0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		22	194	0	0	0	1	0	22	194				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	13	0	0	0	1	0	5	13				
PTPN9	5780	broad.mit.edu	37	15	75761319	75761319	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	ENST00000306726.2	-	13	2085	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	525	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1573-1575)Ttc>Gtc		protein tyrosine phosphatase, non-receptor type 9							63.0	52.0	56.0					15																	75761319		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75761319A>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1573T>G	15.37:g.75761319A>C	ENSP00000303554:p.Phe525Val						p.F525V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			13	2085	-			525			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1573T>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825623	0.50739	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.17528	2.27	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046595	0.85682	D	0.000000	T	0.41465	0.1160	M	0.74467	2.265	0.58432	D	0.999999	D	0.61080	0.989	D	0.75484	0.986	T	0.32079	-0.9920	10	0.87932	D	0	.	11.8444	0.52376	0.9307:0.0:0.0693:0.0	.	525	P43378	PTN9_HUMAN	V	525;515	ENSP00000303554:F525V	ENSP00000303554:F525V	F	-	1	0	PTPN9	73548372	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	4.717000	0.61923	2.371000	0.80710	0.533000	0.62120	TTC		0.512	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			14	20	0	0	0	1	0	14	20				
NPSR1	387129	broad.mit.edu	37	7	34724169	34724169	+	Silent	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	ENST00000360581.1	+	2	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.E51E|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E|NPSR1_ENST00000359791.1_Silent_p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	51						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCAGACTGAGCAATTGATAA	0.433																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(151-153)gaG>gaA		neuropeptide S receptor 1	Halothane(DB01159)						183.0	177.0	179.0					7																	34724169		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724169G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.153G>A	7.37:g.34724169G>A						NPSR1_ENST00000359791.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E|NPSR1_ENST00000381542.1_Silent_p.E51E	p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			2	281	+			51					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.153G>A	CCDS5444.1																																																																																				0.433	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		34	60	0	0	0	1	0	34	60				
GAL3ST4	79690	broad.mit.edu	37	7	99764196	99764196	+	Missense_Mutation	SNP	G	G	A	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	ENST00000360039.4	-	3	750	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	120					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGTGGGCGGTAGCCTTTT	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		18885	0.0		0.002	False		,,,				2504	0.0					ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(358-360)Cgc>Tgc		galactose-3-O-sulfotransferase 4		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	99.0	102.0	101.0		358	3.1	0.9	7	dbSNP_133	101	16,8584	11.2+/-40.8	0,16,4284	yes	missense	GAL3ST4	NM_024637.4	180	0,18,6485	AA,AG,GG		0.186,0.0454,0.1384	possibly-damaging	120/487	99764196	18,12988	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764196G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.358C>T	7.37:g.99764196G>A	ENSP00000353142:p.Arg120Cys					GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000411994.1_Intron	p.R120C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			3	750	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		120					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.358C>T	CCDS5688.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.04	2.715278	0.48622	4.54E-4	0.00186	ENSG00000197093	ENST00000413800;ENST00000360039	D;D	0.99764	-6.68;-6.68	5.11	3.13	0.36017	.	0.776965	0.11075	U	0.602441	D	0.99266	0.9744	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.51101	0.659	D	0.98304	1.0520	10	0.40728	T	0.16	0.0671	7.5554	0.27820	0.0:0.1833:0.627:0.1896	.	120	Q96RP7	G3ST4_HUMAN	C	120	ENSP00000400451:R120C;ENSP00000353142:R120C	ENSP00000353142:R120C	R	-	1	0	GAL3ST4	99602132	0.830000	0.29337	0.926000	0.36857	0.335000	0.28730	0.911000	0.28584	1.121000	0.41925	0.455000	0.32223	CGC		0.612	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		4	167	0	0	0	1	0	4	167				
IL17C	27189	broad.mit.edu	37	16	88705399	88705399	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	ENST00000244241.4	+	2	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	6					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCCTCCCCGGCCTCCTGTTT	0.642																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(16-18)gGc>gAc		interleukin 17C							83.0	95.0	91.0					16																	88705399		1985	4160	6145	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705399G>A	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"""Interleukins and interleukin receptors"""	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.17G>A	16.37:g.88705399G>A	ENSP00000244241:p.Gly6Asp						p.G6D	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	66	+			6					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.17G>A	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852181	0.32699	.	.	ENSG00000124391	ENST00000244241	T	0.49139	0.79	4.37	2.36	0.29203	.	1.308000	0.05185	N	0.502128	T	0.34861	0.0912	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.32955	-0.9887	10	0.87932	D	0	-6.0654	6.6338	0.22872	0.0956:0.0:0.7289:0.1755	.	6	Q9P0M4	IL17C_HUMAN	D	6	ENSP00000244241:G6D	ENSP00000244241:G6D	G	+	2	0	IL17C	87232900	0.055000	0.20627	0.229000	0.23960	0.558000	0.35554	0.364000	0.20325	0.395000	0.25257	0.555000	0.69702	GGC		0.642	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		50	199	0	0	0	1	0	50	199				
CFHR3	10878	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	rs574536456		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	ENST00000367425.4	+	3	481	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000471440.2_Missense_Mutation_p.T130M|CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473													-|||	1	0.000199681	0.0	0.0	5008	,	,		11779	0.0		0.0	False		,,,				2504	0.001					ENST00000471440.2																			1	Substitution - Missense(1)	p.T130M(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(388-390)aCg>aTg		complement factor H-related 3							85.0	84.0	85.0					1																	196749062		1904	4137	6041	SO:0001583	missense	10878							g.chr1:196749062C>T	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.389C>T	1.37:g.196749062C>T	ENSP00000356395:p.Thr130Met					CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M|CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M	p.T130M							3	463	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.389C>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648809	0.29336	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.65916	-0.18;-0.18;-0.18	3.67	2.74	0.32292	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69486	0.3116	M	0.79343	2.45	0.09310	N	1	P;D;P	0.60575	0.875;0.988;0.943	P;P;B	0.54889	0.598;0.763;0.258	T	0.57365	-0.7824	9	0.31617	T	0.26	.	7.6977	0.28604	0.0:0.8732:0.0:0.1268	.	130;130;130	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	M	130	ENSP00000356395:T130M;ENSP00000436258:T130M;ENSP00000375845:T130M	ENSP00000356395:T130M	T	+	2	0	CFHR3	195015685	0.132000	0.22450	0.037000	0.18230	0.005000	0.04900	1.146000	0.31589	0.653000	0.30826	0.398000	0.26397	ACG		0.473	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		36	58	0	0	0	1	0	36	58				
DDX39B	7919	broad.mit.edu	37	6	31506618	31506618	+	Silent	SNP	C	C	T			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:31506618C>T	ENST00000396172.1	-	4	984	c.354G>A	c.(352-354)gtG>gtA	p.V118V	DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000453105.2_Silent_p.V71V|DDX39B_ENST00000458640.1_Silent_p.V118V|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Silent_p.V118V|SNORD84_ENST00000584275.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.V133V	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	118	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGTGACACATCACCAGTACAG	0.453																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(397-399)gtG>gtA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							139.0	132.0	134.0					6																	31506618		2203	4300	6503	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31506618C>T	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.354G>A	6.37:g.31506618C>T						ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000396172.1_Silent_p.V118V|DDX39B_ENST00000376177.2_Silent_p.V118V|DDX39B_ENST00000458640.1_Silent_p.V118V|DDX39B_ENST00000453105.2_Silent_p.V71V|DDX39B_ENST00000449074.2_3'UTR	p.V133V			Q13838	DX39B_HUMAN			5	1029	-			118			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.399G>A	CCDS4697.1																																																																																				0.453	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		7	72	0	0	0	1	0	7	72				
FHL5	9457	broad.mit.edu	37	6	97053913	97053913	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	ENST00000326771.2	+	5	850	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	157	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(469-471)aAg>aGg		four and a half LIM domains 5							111.0	100.0	103.0					6																	97053913		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97053913A>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.470A>G	6.37:g.97053913A>G	ENSP00000326022:p.Lys157Arg					FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	850	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	157			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.470A>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480284	0.44044	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87491	-2.26;-2.26;-2.26	6.06	2.3	0.28687	Zinc finger, LIM-type (3);	0.000000	0.47455	D	0.000225	T	0.67822	0.2934	L	0.31804	0.96	0.49299	D	0.999771	B	0.21381	0.055	B	0.30646	0.118	T	0.63125	-0.6707	10	0.44086	T	0.13	.	6.8993	0.24273	0.7634:0.0:0.1247:0.1119	.	157	Q5TD97	FHL5_HUMAN	R	157	ENSP00000442357:K157R;ENSP00000326022:K157R;ENSP00000396390:K157R	ENSP00000326022:K157R	K	+	2	0	FHL5	97160634	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.289000	0.65656	0.516000	0.28340	0.528000	0.53228	AAG		0.383	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		7	55	0	0	0	1	0	7	55				
FGD5	152273	broad.mit.edu	37	3	14862573	14862573	+	Silent	SNP	G	G	A	rs371257394		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	ENST00000285046.5	+	1	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_ENST00000543601.1_Silent_p.T424T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	665					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19923	0.0		0.0	False		,,,				2504	0.0					ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1993-1995)acG>acA		FYVE, RhoGEF and PH domain containing 5		G		4,3964		0,4,1980	80.0	80.0	80.0		1995	-10.6	0.0	3		80	0,8342		0,0,4171	no	coding-synonymous	FGD5	NM_152536.3		0,4,6151	AA,AG,GG		0.0,0.1008,0.0325		665/1463	14862573	4,12306	1984	4171	6155	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862573G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1995G>A	3.37:g.14862573G>A						FGD5_ENST00000543601.1_Silent_p.T424T	p.T665T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2105	+			665					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1995G>A	CCDS46767.1																																																																																				0.512	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		30	38	0	0	0	1	0	30	38				
FUBP1	8880	broad.mit.edu	37	1	78430643	78430643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	ENST00000370768.2	-	9	728	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.G216fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(646-648)gafs		far upstream element (FUSE) binding protein 1							76.0	84.0	81.0					1																	78430643		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430643delC	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.647delG	1.37:g.78430643delC	ENSP00000359804:p.Gly216fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.G216fs	p.G216fs			Q96AE4	FUBP1_HUMAN			9	734	-			216			KH 2.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.647delG	CCDS683.1																																																																																				0.363	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		44	33						44	33	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	ENST00000283943.5	-	37	5492_5493	c.5314_5315delAG	c.(5314-5316)agtfs	p.S1772fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1772					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATACTGTAGACTCTCTTTGGTC	0.361																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5314-5316)tfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230638967_230638968delCT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5314_5315delAG	2.37:g.230638971_230638972delCT	ENSP00000283943:p.Ser1772fs					TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	p.S1772fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	37	5492_5493	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1772					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.5314_5315delAG	CCDS33391.1																																																																																				0.361	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		44	64						44	64	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	5						3	5	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157469999	157469999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	ENST00000350026.5	+	8	2755	c.2754delG	c.(2752-2754)atgfs	p.M918fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.M931fs|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	918					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2791-2793)atfs		AT rich interactive domain 1B (SWI1-like)							42.0	43.0	43.0					6																	157469999		2203	4293	6496	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469999delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2754delG	6.37:g.157469999delG	ENSP00000055163:p.Met918fs					ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs|ARID1B_ENST00000478761.1_3'UTR	p.M931fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	2794	+		Breast(66;0.000162)|Ovarian(120;0.0265)	918					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.2793delG	CCDS5251.2																																																																																				0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		31	62						31	62	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50686874	50686874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	ENST00000401949.1	-	9	1239	c.770delA	c.(769-771)aatfs	p.N257fs	GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000403097.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	257					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(751-753)atfs		growth factor receptor-bound protein 10							82.0	83.0	83.0					7																	50686874		1866	4097	5963	SO:0001589	frameshift_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50686874delT		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.770delA	7.37:g.50686874delT	ENSP00000385770:p.Asn257fs					GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000401949.1_Frame_Shift_Del_p.N257fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs	p.N251fs			Q13322	GRB10_HUMAN			8	1532	-	Glioma(55;0.08)|all_neural(89;0.245)		257					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Frame_Shift_Del	DEL	ENST00000401949.1	37	c.752delA	CCDS43582.1																																																																																				0.408	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			20	31						20	31	---	---	---	---
SIAH1	6477	broad.mit.edu	37	16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	ENST00000380006.2	-	1	1569_1570	c.116_117delTT	c.(115-117)tttfs	p.F39fs	SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	39					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.51																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(115-117)tfs		siah E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396223_48396224delAA	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.116_117delTT	16.37:g.48396225_48396226delAA	ENSP00000369343:p.Phe39fs					SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs|SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs	p.F39fs			Q8IUQ4	SIAH1_HUMAN			1	1569_1570	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	39					A0FKF3|O43269|Q49A58|Q92880	Frame_Shift_Del	DEL	ENST00000380006.2	37	c.116_117delTT	CCDS10735.1																																																																																				0.510	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			7	102						7	102	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59482747	59482748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	ENST00000240328.3	+	6	1517_1518	c.1236_1237insG	c.(1237-1239)gggfs	p.G413fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	413					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1234-1239)gggggafs		T-box 2																																				SO:0001589	frameshift_variant	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482747_59482748insG	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1240dupG	17.37:g.59482751_59482751dupG	ENSP00000240328:p.Gly413fs					RP11-332H18.4_ENST00000592009.1_RNA	p.GG412fs	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			6	1517_1518	+			412					Q16424|Q7Z647	Frame_Shift_Ins	INS	ENST00000240328.3	37	c.1236_1237insG	CCDS11627.2																																																																																				0.748	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		2	4						2	4	---	---	---	---
OR7A17	26333	broad.mit.edu	37	19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	ENST00000327462.2	-	1	980_981	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(883-885)afs		olfactory receptor, family 7, subfamily A, member 17																																				SO:0001589	frameshift_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991283_14991284delTT	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.884_885delAA	19.37:g.14991283_14991284delTT	ENSP00000328144:p.Lys295fs						p.K295fs	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	980_981	-	Ovarian(108;0.203)		295					Q6IFQ6|Q96R98	Frame_Shift_Del	DEL	ENST00000327462.2	37	c.884_885delAA	CCDS12319.1																																																																																				0.436	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		20	87						20	87	---	---	---	---
SNAP25-AS1	100131208	broad.mit.edu	37	20	10152895	10152895	+	lincRNA	DEL	G	G	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr20:10152895delG	ENST00000424931.1	+	0	0				SNAP25-AS1_ENST00000605592.1_RNA|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000451151.1_RNA																							gcgggggggcggggggggcAC	0.726																																						ENST00000603542.1																			0																																																			0							g.chr20:10152895delG																													20.37:g.10152895delG						SNAP25-AS1_ENST00000451151.1_RNA|SNAP25-AS1_ENST00000605592.1_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA		NR_040710.1						0	638	-									RNA	DEL	ENST00000424931.1	37																																																																																						0.726	RP11-416N4.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000077973.1			3	5						3	5	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56284593	56284595	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr20:56284593_56284595delCGG	ENST00000341744.3	-	1	363_365	c.44_46delCCG	c.(43-48)gccggg>ggg	p.A15del	PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000347215.4_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	15					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TTGGGCTgcccggcggcggcggc	0.734																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(43-48)ggg>g		prostate transmembrane protein, androgen induced 1			,,,	0,27,18,3913		0,0,0,0,1,0,25,0,18,1935					,,,	3.0	1.0			23	4,67,1,7672		0,0,0,4,4,0,59,0,1,3804	no	intron,intron,intron,codingComplex	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,0,0,4,5,0,84,0,19,5739	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		0.9298,1.1369,0.9998	,,,	,,,		4,94,19,11585				SO:0001651	inframe_deletion	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56284593_56284595delCGG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.44_46delCCG	20.37:g.56284602_56284604delCGG	ENSP00000345826:p.Ala15del					PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000265626.4_Intron	p.AG15del	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			1	363_365	-			15					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	In_Frame_Del	DEL	ENST00000341744.3	37	c.44_46delCCG	CCDS13463.1																																																																																				0.734	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		4	7						4	7	---	---	---	---
