#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
HEATR2	54919	broad.mit.edu	37	7	780561	780561	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:780561G>A	ENST00000297440.6	+	3	906	c.886G>A	c.(886-888)Gac>Aac	p.D296N	HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N|HEATR2_ENST00000438961.1_3'UTR	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	296						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TAGCCTCAACGACGAGGTGCC	0.622																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(886-888)Gac>Aac		HEAT repeat containing 2							131.0	111.0	118.0					7																	780561		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:780561G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.886G>A	7.37:g.780561G>A	ENSP00000297440:p.Asp296Asn					HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N	p.D296N	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	3	906	+		Ovarian(82;0.0112)	296					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.886G>A	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.316041|3.316041	0.60524|0.60524	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000437419;ENST00000440747	T;T|.	0.69435|.	-0.4;-0.4|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.84197|0.84197	0.5419|0.5419	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.87736|0.87736	0.2582|0.2582	10|5	0.87932|.	D|.	0|.	-36.7592|-36.7592	17.5051|17.5051	0.87742|0.87742	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	296;42|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	N|Q	296;296;42|68;97	ENSP00000297440:D296N;ENSP00000321451:D296N|.	ENSP00000297440:D296N|.	D|R	+|+	1|2	0|0	HEATR2|HEATR2	747087|747087	1.000000|1.000000	0.71417|0.71417	0.054000|0.054000	0.19295|0.19295	0.002000|0.002000	0.02628|0.02628	8.423000|8.423000	0.90264|0.90264	2.290000|2.290000	0.77057|0.77057	0.650000|0.650000	0.86243|0.86243	GAC|CGA		0.622	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		4	122	0	0	0	1	0	4	122				
GPR180	160897	broad.mit.edu	37	13	95275437	95275437	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	ENST00000376958.4	+	7	994	c.969G>C	c.(967-969)ggG>ggC	p.G323G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	323					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(967-969)ggG>ggC		G protein-coupled receptor 180							196.0	177.0	184.0					13																	95275437		2203	4300	6503	SO:0001819	synonymous_variant	160897					integral to membrane		g.chr13:95275437G>C	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.969G>C	13.37:g.95275437G>C							p.G323G	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			7	994	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		323					A8K1D5	Silent	SNP	ENST00000376958.4	37	c.969G>C	CCDS9472.1																																																																																				0.388	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		19	161	0	0	0	1	0	19	161				
CA5BP1	340591	broad.mit.edu	37	X	15711150	15711150	+	RNA	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:15711150A>G	ENST00000380334.2	+	0	290							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										CTGGAAGAAAATGGTTTGGCT	0.358																																						ENST00000380334.2																			0																																																			0							g.chrX:15711150A>G	BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15711150A>G														0	290	+								A6NEZ4	RNA	SNP	ENST00000380334.2	37																																																																																						0.358	CA5BP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000055884.3	NR_026551		3	97	0	0	0	1	0	3	97				
SLC9A5	6553	broad.mit.edu	37	16	67304913	67304913	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	ENST00000299798.11	+	16	2556	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	831					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2491-2493)Cta>Tta		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							57.0	62.0	61.0					16																	67304913		2056	4192	6248	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67304913C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2491C>T	16.37:g.67304913C>T							p.L831L	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	16	2556	+		Ovarian(137;0.0563)	831					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.2491C>T	CCDS42178.1																																																																																				0.657	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			16	42	0	0	0	1	0	16	42				
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000439308.2_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74.0	68.0	70.0		3576	-9.2	0.0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	114	0	0	0	1	0	4	114				
CD200	4345	broad.mit.edu	37	3	112054859	112054859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:112054859T>C	ENST00000473539.1	+	2	139	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CATCAATGATTACCAGGTAAT	0.393																																						ENST00000473539.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(82-84)Tac>Cac		CD200 molecule							125.0	130.0	128.0					3																	112054859		2203	4300	6503	SO:0001583	missense	4345				regulation of immune response	integral to plasma membrane		g.chr3:112054859T>C		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.82T>C	3.37:g.112054859T>C	ENSP00000420298:p.Tyr28His					CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	p.Y28H	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN			2	139	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	0					B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000473539.1	37	c.82T>C	CCDS33818.1	.	.	.	.	.	.	.	.	.	.	T	8.250	0.808895	0.16467	.	.	ENSG00000091972	ENST00000473539	T	0.71579	-0.58	1.71	-1.12	0.09808	.	3.605570	0.01044	N	0.004352	T	0.56963	0.2021	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43245	-0.9403	9	0.87932	D	0	4.9393	2.3421	0.04263	0.0:0.2046:0.3054:0.49	.	28	P41217-3	.	H	28	ENSP00000420298:Y28H	ENSP00000420298:Y28H	Y	+	1	0	CD200	113537549	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.097000	0.11042	-0.277000	0.09193	0.496000	0.49642	TAC		0.393	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1			6	107	0	0	0	1	0	6	107				
MYO15A	51168	broad.mit.edu	37	17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	ENST00000205890.5	+	57	9825	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3163	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9487-9489)Gtg>Atg		myosin XVA							74.0	79.0	78.0					17																	18064731		2120	4239	6359	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18064731G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9487G>A	17.37:g.18064731G>A	ENSP00000205890:p.Val3163Met					MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M|MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M	p.V3163M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			57	9825	+	all_neural(463;0.228)		3163			MyTH4 2.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9487G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465080	0.26335	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000556535;ENST00000557190;ENST00000451725	D;D;D	0.91996	-2.95;-2.95;-2.95	5.16	0.971	0.19698	MyTH4 domain (3);	.	.	.	.	D	0.88254	0.6387	L	0.38175	1.15	0.27008	N	0.964757	P;P;B;B;P;P	0.50528	0.66;0.853;0.432;0.29;0.936;0.936	B;B;B;B;P;P	0.46585	0.274;0.179;0.179;0.115;0.521;0.521	T	0.79448	-0.1799	9	0.46703	T	0.11	.	8.8633	0.35272	0.3454:0.0:0.6546:0.0	.	55;152;427;3163;85;170	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	M	3163;152;117;55;55	ENSP00000205890:V3163M;ENSP00000451782:V117M;ENSP00000409098:V55M	ENSP00000205890:V3163M	V	+	1	0	MYO15A	18005456	0.992000	0.36948	0.046000	0.18839	0.466000	0.32739	3.284000	0.51708	-0.024000	0.13941	-0.369000	0.07265	GTG		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	130	0	0	0	1	0	12	130				
SLC39A14	23516	broad.mit.edu	37	8	22273631	22273631	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr8:22273631C>T	ENST00000381237.1	+	7	1104	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C|SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	329					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAAAGGTGTCCGCTACTCTGA	0.582																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(985-987)Cgc>Tgc		solute carrier family 39 (zinc transporter), member 14							85.0	76.0	79.0					8																	22273631		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273631C>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.985C>T	8.37:g.22273631C>T	ENSP00000370635:p.Arg329Cys					SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C	p.R329C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	7	1104	+			329					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.985C>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296967	0.81025	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.72835	-0.29;-0.31;-0.29;-0.29;-0.69	5.99	5.99	0.97316	.	0.417389	0.30151	N	0.010285	T	0.79575	0.4469	L	0.49126	1.545	0.53688	D	0.999972	D;D;D	0.64830	0.994;0.984;0.991	P;P;P	0.58970	0.827;0.849;0.849	T	0.79619	-0.1728	10	0.66056	D	0.02	-34.6712	19.2492	0.93917	0.0:1.0:0.0:0.0	.	329;329;329	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	C	329;329;329;329;152	ENSP00000352779:R329C;ENSP00000240095:R329C;ENSP00000370635:R329C;ENSP00000289952:R329C;ENSP00000427981:R152C	ENSP00000240095:R329C	R	+	1	0	SLC39A14	22329576	0.141000	0.22595	0.971000	0.41717	0.914000	0.54420	1.021000	0.30040	2.840000	0.97914	0.655000	0.94253	CGC		0.582	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		4	66	0	0	0	1	0	4	66				
ZNF41	7592	broad.mit.edu	37	X	47315320	47315320	+	Splice_Site	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	ENST00000377065.4	-	4	934	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	ZNF41_ENST00000313116.7_Splice_Site_p.G99C|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Splice_Site_p.G109C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	141	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.e4+1		zinc finger protein 41							100.0	81.0	87.0					X																	47315320		2203	4300	6503	SO:0001630	splice_region_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47315320C>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.295+1G>T	X.37:g.47315320C>A						ZNF41_ENST00000313116.7_Splice_Site_p.G99_splice|ZNF41_ENST00000397050.2_Splice_Site_p.G109_splice|ZNF41_ENST00000465311.1_5'UTR	p.G99_splice	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			4	934	-		all_lung(315;0.000129)	141			KRAB.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Splice_Site	SNP	ENST00000377065.4	37	c.295_splice	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484161	0.44147	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.08193	3.12;3.12;3.13;5.78	2.3	2.3	0.28687	.	1.094030	0.07280	N	0.870554	T	0.17789	0.0427	L	0.58354	1.805	0.31548	N	0.659095	P;P;D;P;P	0.55800	0.913;0.913;0.973;0.913;0.859	B;B;P;B;B	0.53360	0.123;0.123;0.724;0.123;0.091	T	0.16571	-1.0398	9	.	.	.	.	9.9898	0.41863	0.0:1.0:0.0:0.0	.	99;101;109;133;141	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	C	99;99;109;109	ENSP00000315173:G99C;ENSP00000366265:G99C;ENSP00000380243:G109C;ENSP00000390385:G109C	.	G	-	1	0	ZNF41	47200264	0.969000	0.33509	0.992000	0.48379	0.605000	0.37080	0.586000	0.23894	1.452000	0.47756	0.468000	0.43344	GGT		0.522	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	Missense_Mutation	8	74	1	0	0.0477658	1	0.0485619	8	74				
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2026-2028)ccG>ccA		vacuolar protein sorting 18 homolog (S. cerevisiae)							78.0	72.0	74.0					15																	41193044		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193044G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2028G>A	15.37:g.41193044G>A						VPS18_ENST00000558474.1_Intron	p.P676P	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2367	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	676					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2028G>A	CCDS10069.1																																																																																				0.647	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	145	0	0	0	1	0	4	145				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																						ENST00000579062.1																			1	Substitution - Missense(1)	p.R183Q(1)	endometrium(1)																																																0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T														0	460	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		5	44	0	0	0	1	0	5	44				
ARHGAP32	9743	broad.mit.edu	37	11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552																																						ENST00000310343.9																			2	Substitution - Missense(2)	p.R1581L(1)|p.R1232L(1)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4741-4743)cGg>cAg		Rho GTPase activating protein 32							82.0	75.0	77.0					11																	128840324		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840324C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4742G>A	11.37:g.128840324C>T	ENSP00000310561:p.Arg1581Gln					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q	p.R1581Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4741	-			1581			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4742G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456714	0.84317	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.33654	1.49;1.4;1.4	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	M	0.70275	2.135	0.49915	D	0.999839	P	0.48230	0.907	B	0.35550	0.205	T	0.45687	-0.9244	10	0.87932	D	0	.	14.333	0.66569	0.0:0.9287:0.0:0.0713	.	1581	A7KAX9	RHG32_HUMAN	Q	1581;1232;1232	ENSP00000310561:R1581Q;ENSP00000376425:R1232Q;ENSP00000432862:R1232Q	ENSP00000310561:R1581Q	R	-	2	0	ARHGAP32	128345534	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.428000	0.80296	1.351000	0.45789	0.655000	0.94253	CGG		0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		24	60	0	0	0	1	0	24	60				
SIN3B	23309	broad.mit.edu	37	19	16973238	16973238	+	Silent	SNP	C	C	T	rs150062565	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:16973238C>T	ENST00000248054.5	+	9	1155	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	SIN3B_ENST00000595541.1_5'Flank|SIN3B_ENST00000379803.1_Silent_p.S378S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCATGAGCGACAGATCCG	0.517													.|||	4	0.000798722	0.003	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.0					ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1132-1134)agC>agT		SIN3 transcription regulator family member B		C		6,4400	11.4+/-27.6	0,6,2197	75.0	75.0	75.0		1134	-6.4	0.1	19	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIN3B	NM_015260.2		0,8,6495	TT,TC,CC		0.0233,0.1362,0.0615		378/1163	16973238	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973238C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1134C>T	19.37:g.16973238C>T						SIN3B_ENST00000248054.5_Silent_p.S378S	p.S378S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			9	1148	+			378			Interaction with NCOR1 (By similarity).			Silent	SNP	ENST00000248054.5	37	c.1134C>T																																																																																					0.517	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	95	0	0	0	1	0	4	95				
KIF1A	547	broad.mit.edu	37	2	241683359	241683359	+	Splice_Site	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	ENST00000320389.7	-	31	3439	c.3281G>A	c.(3280-3282)aGc>aAc	p.S1094N	KIF1A_ENST00000498729.2_Splice_Site_p.S1195N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1094					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.e33+1		kinesin family member 1A							84.0	93.0	90.0					2																	241683359		1957	4132	6089	SO:0001630	splice_region_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241683359C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3281+1G>A	2.37:g.241683359C>T						KIF1A_ENST00000320389.7_Splice_Site_p.S1094_splice	p.S1195_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	33	3830	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1094					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Splice_Site	SNP	ENST00000320389.7	37	c.3584_splice	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.344563|2.344563	0.41498|0.41498	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000431776|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.75367	.|-0.93;-0.93;-0.93	4.91|4.91	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.76126|0.76126	0.3944|0.3944	L|L	0.32530|0.32530	0.975|0.975	0.50039|0.50039	D|D	0.999849|0.999849	.|D;D;P	.|0.56287	.|0.968;0.975;0.937	.|P;P;P	.|0.61477	.|0.889;0.778;0.585	T|T	0.73864|0.73864	-0.3848|-0.3848	5|9	.|.	.|.	.|.	.|.	13.0725|13.0725	0.59070|0.59070	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	.|1195;1195;1094	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	T|N	18|1094;1195;1195;1195	.|ENSP00000322791:S1094N;ENSP00000438388:S1195N;ENSP00000384231:S1195N	.|.	A|S	-|-	1|2	0|0	KIF1A|KIF1A	241332032|241332032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.017000|0.017000	0.09413|0.09413	7.618000|7.618000	0.83043|0.83043	1.067000|1.067000	0.40740|0.40740	-0.218000|-0.218000	0.12543|0.12543	GCC|AGC		0.592	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	Missense_Mutation	10	75	0	0	0	1	0	10	75				
IGF1R	3480	broad.mit.edu	37	15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	ENST00000268035.6	+	8	2275	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	555	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTGGACGTGGACCTCCCGCCC	0.537																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1663-1665)gAc>gGc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						84.0	69.0	74.0					15																	99456347		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456347A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1664A>G	15.37:g.99456347A>G	ENSP00000268035:p.Asp555Gly					IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	2275	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		555			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1664A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807234	0.90623	.	.	ENSG00000140443	ENST00000268035	T	0.70045	-0.45	4.77	4.77	0.60923	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	T	0.77123	0.4084	M	0.64170	1.965	0.80722	D	1	D;B	0.71674	0.998;0.037	P;B	0.62885	0.908;0.066	T	0.78448	-0.2200	10	0.49607	T	0.09	.	14.7497	0.69516	1.0:0.0:0.0:0.0	.	555;555	C9J5X1;P08069	.;IGF1R_HUMAN	G	555	ENSP00000268035:D555G	ENSP00000268035:D555G	D	+	2	0	IGF1R	97273870	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.068000	0.93961	2.135000	0.66039	0.460000	0.39030	GAC		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		4	43	0	0	0	1	0	4	43				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	110	0	0	0	1	0	5	110				
TTLL9	164395	broad.mit.edu	37	20	30486368	30486368	+	Splice_Site	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	ENST00000375938.4	+	4	459	c.206A>C	c.(205-207)gAc>gCc	p.D69A	TTLL9_ENST00000375922.4_Splice_Site_p.D19A|TTLL9_ENST00000375934.4_Splice_Site_p.D51A|TTLL9_ENST00000535842.1_Splice_Site_p.D69A|TTLL9_ENST00000375921.2_Splice_Site_p.D19A|RNU1-94P_ENST00000362627.1_RNA|TTLL9_ENST00000310998.4_Splice_Site_p.D19A			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	69	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562																																						ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.e4+1		tubulin tyrosine ligase-like family, member 9							80.0	83.0	82.0					20																	30486368		2043	4190	6233	SO:0001630	splice_region_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30486368A>C	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.206+1A>C	20.37:g.30486368A>C						TTLL9_ENST00000375921.2_Splice_Site_p.D19_splice|TTLL9_ENST00000310998.4_Splice_Site_p.D19_splice|TTLL9_ENST00000375934.4_Splice_Site_p.D51_splice|TTLL9_ENST00000375922.4_Splice_Site_p.D19_splice|TTLL9_ENST00000535842.1_Splice_Site_p.D69_splice	p.D69_splice			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	459	+			69			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Splice_Site	SNP	ENST00000375938.4	37	c.206_splice	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962361	0.74016	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.11277	3.72;3.72;3.69;3.09;2.79;3.82	5.48	5.48	0.80851	.	0.233292	0.23319	U	0.049468	T	0.16257	0.0391	L	0.48218	1.51	0.46798	D	0.999204	P	0.48911	0.917	P	0.49301	0.606	T	0.00961	-1.1499	10	0.41790	T	0.15	.	11.9571	0.52986	1.0:0.0:0.0:0.0	.	69	Q3SXZ7	TTLL9_HUMAN	A	69;69;19;19;51;51;19	ENSP00000365105:D69A;ENSP00000442515:D69A;ENSP00000308980:D19A;ENSP00000365086:D19A;ENSP00000365100:D51A;ENSP00000365088:D19A	ENSP00000308980:D19A	D	+	2	0	TTLL9	29950029	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.145000	0.64839	2.087000	0.62958	0.460000	0.39030	GAC		0.562	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	Missense_Mutation	23	35	0	0	0	1	0	23	35				
GGT1	2678	broad.mit.edu	37	22	25016936	25016936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:25016936C>T	ENST00000400382.1	+	9	1387	c.632C>T	c.(631-633)cCg>cTg	p.P211L	GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L|GGT1_ENST00000400380.1_Missense_Mutation_p.P211L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	211					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGACCCTGCCGCAGCTGGCT	0.647																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(631-633)cCg>cTg		gamma-glutamyltransferase 1	Glutathione(DB00143)						23.0	24.0	24.0					22																	25016936		2026	4178	6204	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016936C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.632C>T	22.37:g.25016936C>T	ENSP00000383232:p.Pro211Leu					GGT1_ENST00000400380.1_Missense_Mutation_p.P211L|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L	p.P211L			P19440	GGT1_HUMAN			9	1387	+			211					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.632C>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	18.06	3.540066	0.65085	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	3.94	3.94	0.45596	.	0.137657	0.49916	U	0.000139	T	0.13884	0.0336	M	0.77712	2.385	0.52099	D	0.999948	P	0.38223	0.623	B	0.25405	0.06	T	0.12142	-1.0559	10	0.56958	D	0.05	-15.527	15.3467	0.74343	0.0:1.0:0.0:0.0	.	211	P19440	GGT1_HUMAN	L	211	ENSP00000248923:P211L;ENSP00000393537:P211L;ENSP00000383232:P211L;ENSP00000383233:P211L;ENSP00000383231:P211L;ENSP00000385975:P211L	ENSP00000248923:P211L	P	+	2	0	GGT1	23346936	0.997000	0.39634	0.388000	0.26195	0.441000	0.31987	3.618000	0.54188	1.920000	0.55613	0.555000	0.69702	CCG		0.647	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	50	0	0	0	1	0	3	50				
NCOR1	9611	broad.mit.edu	37	17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	ENST00000268712.3	-	43	6982	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	AC002553.1_ENST00000442828.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2242	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(6724-6726)aCt>aGt		nuclear receptor corepressor 1							90.0	81.0	84.0					17																	15943763		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15943763G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6725C>G	17.37:g.15943763G>C	ENSP00000268712:p.Thr2242Ser					NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S|AC002553.1_ENST00000442828.1_Intron	p.T2242S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	43	6982	-			2242			ID2 (By similarity).|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6725C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755750	0.49362	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.60424	0.19;0.8;0.3	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.993;0.996;0.999;0.999	D;D;D;D;D	0.85130	0.986;0.956;0.99;0.997;0.994	T	0.77453	-0.2582	10	0.87932	D	0	-11.8236	18.6919	0.91586	0.0:0.0:1.0:0.0	.	2146;2242;2139;762;256	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	S	2242;2139;2146;826	ENSP00000268712:T2242S;ENSP00000379192:T2139S;ENSP00000379198:T826S	ENSP00000268712:T2242S	T	-	2	0	NCOR1	15884488	1.000000	0.71417	0.977000	0.42913	0.931000	0.56810	8.756000	0.91651	2.655000	0.90218	0.655000	0.94253	ACT		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		3	51	0	0	0	1	0	3	51				
SLC39A12	221074	broad.mit.edu	37	10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	ENST00000377369.2	+	7	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	385					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1153-1155)Aca>Gca		solute carrier family 39 (zinc transporter), member 12							150.0	114.0	126.0					10																	18276464		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276464A>G		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1153A>G	10.37:g.18276464A>G	ENSP00000366586:p.Thr385Ala					SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	p.T385A	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1426	+			385					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1153A>G	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315600	0.23908	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.84	2.0	0.26442	.	0.360528	0.32175	N	0.006477	T	0.13628	0.0330	N	0.02345	-0.59	0.36500	D	0.868938	B;B;B	0.21821	0.035;0.011;0.061	B;B;B	0.20184	0.015;0.018;0.028	T	0.05599	-1.0875	10	0.23891	T	0.37	-11.17	2.002	0.03469	0.5917:0.1376:0.139:0.1316	.	385;385;385	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	A	385;385;385;251;305	ENSP00000366586:T385A;ENSP00000366591:T385A;ENSP00000366588:T385A;ENSP00000440445:T251A	ENSP00000366586:T385A	T	+	1	0	SLC39A12	18316470	1.000000	0.71417	0.968000	0.41197	0.869000	0.49853	3.243000	0.51392	0.458000	0.26988	0.533000	0.62120	ACA		0.557	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		7	86	0	0	0	1	0	7	86				
LUM	4060	broad.mit.edu	37	12	91502163	91502163	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:91502163T>A	ENST00000266718.4	-	2	1048	c.594A>T	c.(592-594)agA>agT	p.R198S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	198					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAGGCAGTCTGGCTATCT	0.423																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(592-594)agA>agT		lumican							149.0	144.0	146.0					12																	91502163		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502163T>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.594A>T	12.37:g.91502163T>A	ENSP00000266718:p.Arg198Ser					LUM_ENST00000548071.1_Intron	p.R198S	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1048	-			198					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.594A>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514874	0.44763	.	.	ENSG00000139329	ENST00000266718	T	0.16196	2.36	5.6	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	N	0.01019	-1.045	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.40534	-0.9558	10	0.22706	T	0.39	-17.9802	7.3827	0.26864	0.0:0.4925:0.0:0.5075	.	198	P51884	LUM_HUMAN	S	198	ENSP00000266718:R198S	ENSP00000266718:R198S	R	-	3	2	LUM	90026294	0.995000	0.38212	0.996000	0.52242	0.911000	0.54048	0.393000	0.20817	0.426000	0.26116	0.455000	0.32223	AGA		0.423	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		8	160	0	0	0	1	0	8	160				
ARHGAP18	93663	broad.mit.edu	37	6	129959563	129959563	+	Silent	SNP	A	A	T	rs369628546		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:129959563A>T	ENST00000368149.2	-	3	616	c.528T>A	c.(526-528)gcT>gcA	p.A176A		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCTCTGTTGAGCAAATATGT	0.388																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(526-528)gcT>gcA		Rho GTPase activating protein 18							180.0	178.0	179.0					6																	129959563		2203	4300	6503	SO:0001819	synonymous_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959563A>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.528T>A	6.37:g.129959563A>T							p.A176A	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	616	-			176						Silent	SNP	ENST00000368149.2	37	c.528T>A	CCDS34535.1																																																																																				0.388	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		5	106	0	0	0	1	0	5	106				
WBSCR17	64409	broad.mit.edu	37	7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597																																						ENST00000333538.5																			1	Substitution - Missense(1)	p.A313S(1)	endometrium(1)	NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(937-939)Gcc>Acc		Williams-Beuren syndrome chromosome region 17							56.0	58.0	57.0					7																	70886066		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70886066G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.937G>A	7.37:g.70886066G>A	ENSP00000329654:p.Ala313Thr					WBSCR17_ENST00000498380.2_3'UTR	p.A313T	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			5	1571	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	313					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.937G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548491	0.65311	.	.	ENSG00000185274	ENST00000333538	T	0.59364	0.27	5.32	5.32	0.75619	.	0.053435	0.64402	D	0.000001	T	0.45955	0.1368	N	0.17278	0.47	0.80722	D	1	P	0.42973	0.796	B	0.41666	0.363	T	0.43393	-0.9394	10	0.33141	T	0.24	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	313	Q6IS24	GLTL3_HUMAN	T	313	ENSP00000329654:A313T	ENSP00000329654:A313T	A	+	1	0	WBSCR17	70524002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	GCC		0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		10	33	0	0	0	1	0	10	33				
MUC17	140453	broad.mit.edu	37	7	100683779	100683779	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:100683779C>T	ENST00000306151.4	+	3	9146	c.9082C>T	c.(9082-9084)Cct>Tct	p.P3028S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3028	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCCTCTCCTACAACTGC	0.527																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9082-9084)Cct>Tct		mucin 17, cell surface associated							262.0	275.0	271.0					7																	100683779		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683779C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9082C>T	7.37:g.100683779C>T	ENSP00000302716:p.Pro3028Ser						p.P3028S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9146	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3028			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9082C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120855	0.06838	.	.	ENSG00000169876	ENST00000306151	T	0.02140	4.43	0.811	-1.62	0.08372	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.26087	-1.0113	9	0.07990	T	0.79	.	3.8705	0.09035	0.0:0.311:0.4849:0.204	.	3028	Q685J3	MUC17_HUMAN	S	3028	ENSP00000302716:P3028S	ENSP00000302716:P3028S	P	+	1	0	MUC17	100470499	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.295000	0.00523	-0.789000	0.04498	0.121000	0.15741	CCT		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	618	0	0	0	1	0	9	618				
RNPEP	6051	broad.mit.edu	37	1	201972432	201972432	+	Silent	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	ENST00000295640.4	+	9	1537	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.G459G	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	498					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1492-1494)ggG>ggT		arginyl aminopeptidase (aminopeptidase B)							62.0	58.0	60.0					1																	201972432		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972432G>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1494G>T	1.37:g.201972432G>T						RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.G459G|RP11-465N4.4_ENST00000419190.1_RNA	p.G498G	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1537	+			498					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.1494G>T	CCDS1418.1																																																																																				0.562	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		22	53	1	0	1.42536e-11	1	1.61012e-11	22	53				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	43	1	0	0.115264	1	0.115264	3	43				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			38	57	0	0	0	1	0	38	57				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	3	0	0	0	1	0	19	3				
SEZ6L	23544	broad.mit.edu	37	22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	ENST00000248933.6	+	8	1872	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_ENST00000529632.2_Missense_Mutation_p.T593A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	593	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1777-1779)Acc>Gcc		seizure related 6 homolog (mouse)-like							173.0	167.0	169.0					22																	26707829		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26707829A>G	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1777A>G	22.37:g.26707829A>G	ENSP00000248933:p.Thr593Ala					SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T593A	p.T593A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			8	1973	+			593			Sushi 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1777A>G	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338908	0.60963	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000019	T	0.70911	0.3278	M	0.62154	1.92	0.80722	D	1	P;P;P;P;D;P;P	0.57257	0.89;0.898;0.693;0.953;0.979;0.898;0.898	P;P;B;P;P;P;P	0.56163	0.716;0.669;0.433;0.672;0.793;0.669;0.669	T	0.73783	-0.3874	10	0.54805	T	0.06	.	13.7343	0.62809	1.0:0.0:0.0:0.0	.	593;593;366;593;593;593;593	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	A	593;593;593;593;593;366;366	ENSP00000384772:T593A;ENSP00000437037:T593A;ENSP00000354185:T593A;ENSP00000248933:T593A;ENSP00000342661:T593A;ENSP00000384838:T366A;ENSP00000384733:T366A	ENSP00000248933:T593A	T	+	1	0	SEZ6L	25037829	0.988000	0.35896	0.998000	0.56505	0.998000	0.95712	2.925000	0.48884	2.021000	0.59480	0.460000	0.39030	ACC		0.562	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			84	170	0	0	0	1	0	84	170				
ATRX	546	broad.mit.edu	37	X	76940087	76940087	+	Splice_Site	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	ENST00000373344.5	-	9	877		c.e9-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCACACCACCTGAAATGTTTT	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e9-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						69.0	74.0	73.0					X																	76940087		2173	4145	6318	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940087T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.663-2A>G	X.37:g.76940087T>C						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	877	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929671	0.52759	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.493	0.67665	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76826743	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.698000	0.84413	1.803000	0.52742	0.417000	0.27973	.		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	44	94	0	0	0	1	0	44	94				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	135	0	0	0	1	0	4	135				
PIAS4	51588	broad.mit.edu	37	19	4012979	4012979	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:4012979G>A	ENST00000262971.2	+	2	201	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	29	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGTGGGCCGGAGTAAGAGT	0.552																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(85-87)cGg>cAg		protein inhibitor of activated STAT, 4							111.0	106.0	108.0					19																	4012979		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4012979G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.86G>A	19.37:g.4012979G>A	ENSP00000262971:p.Arg29Gln						p.R29Q	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	201	+			29			SAP.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.86G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657429	0.96724	.	.	ENSG00000105229	ENST00000262971	T	0.36699	1.24	5.14	5.14	0.70334	DNA-binding SAP (3);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.58346	-0.7652	10	0.66056	D	0.02	-32.648	17.5803	0.87965	0.0:0.0:1.0:0.0	.	29	Q8N2W9	PIAS4_HUMAN	Q	29	ENSP00000262971:R29Q	ENSP00000262971:R29Q	R	+	2	0	PIAS4	3963979	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.836000	0.86788	2.394000	0.81467	0.561000	0.74099	CGG		0.552	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		3	87	0	0	0	1	0	3	87				
CD109	135228	broad.mit.edu	37	6	74472143	74472143	+	Silent	SNP	G	G	A	rs542993766		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	ENST00000287097.5	+	8	907	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_ENST00000437994.2_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T			Q6YHK3	CD109_HUMAN	CD109 molecule	265					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.001					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(793-795)acG>acA		CD109 molecule							62.0	65.0	64.0					6																	74472143		2203	4298	6501	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74472143G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.795G>A	6.37:g.74472143G>A						CD109_ENST00000287097.5_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T	p.T265T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			8	1226	+			265					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.795G>A	CCDS4982.1																																																																																				0.294	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	37	0	0	0	1	0	5	37				
USH2A	7399	broad.mit.edu	37	1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	ENST00000307340.3	-	49	10030	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A	USH2A_ENST00000366943.2_Missense_Mutation_p.V3215A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3215					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTCAGAACAAACGGGAT	0.433										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9643-9645)gTt>gCt		Usher syndrome 2A (autosomal recessive, mild)							121.0	110.0	114.0					1																	215987173		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215987173A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9644T>C	1.37:g.215987173A>G	ENSP00000305941:p.Val3215Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.V3215A	p.V3215A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10030	-			3215					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9644T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	8.463	0.855743	0.17106	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.8	2.16	0.27623	Fibronectin, type III (2);	2.308810	0.02524	U	0.092895	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32161	-0.9917	10	0.08179	T	0.78	.	6.5116	0.22224	0.5916:0.2229:0.1855:0.0	.	3215	O75445	USH2A_HUMAN	A	3215	ENSP00000305941:V3215A;ENSP00000355910:V3215A	ENSP00000305941:V3215A	V	-	2	0	USH2A	214053796	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	0.755000	0.26405	0.433000	0.26313	0.482000	0.46254	GTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	60	0	0	0	1	0	7	60				
WWC3	55841	broad.mit.edu	37	X	10090693	10090693	+	Missense_Mutation	SNP	G	G	T	rs370586481		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:10090693G>T	ENST00000380861.4	+	12	2056	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	WWC3_ENST00000454666.1_Missense_Mutation_p.L555F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	555					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAAGAGGTTGGAGAGGAGGG	0.552																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1663-1665)ttG>ttT		WWC family member 3							287.0	266.0	273.0					X																	10090693		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10090693G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1665G>T	X.37:g.10090693G>T	ENSP00000370242:p.Leu555Phe					WWC3_ENST00000454666.1_Missense_Mutation_p.L555F	p.L555F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			12	2056	+			555					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1665G>T	CCDS14136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.311904|3.311904	0.60414|0.60414	.|.	.|.	ENSG00000047644|ENSG00000047644	ENST00000398613|ENST00000380861;ENST00000454666;ENST00000543412	.|T;T	.|0.05717	.|3.4;3.4	4.73|4.73	2.62|2.62	0.31277|0.31277	.|.	.|0.540708	.|0.18565	.|N	.|0.137483	.|T	.|0.10594	.|0.0259	M|M	0.65975|0.65975	2.015|2.015	0.30798|0.30798	N|N	0.740178|0.740178	.|P	.|0.44195	.|0.828	.|P	.|0.47705	.|0.555	.|T	.|0.02047	.|-1.1223	.|9	.|.	.|.	.|.	-10.9989|-10.9989	5.6084|5.6084	0.17392|0.17392	0.1815:0.0:0.6447:0.1738|0.1815:0.0:0.6447:0.1738	.|.	.|555	.|Q9ULE0	.|WWC3_HUMAN	X|F	560|555;555;50	.|ENSP00000370242:L555F;ENSP00000399584:L555F	.|.	G|L	+|+	1|3	0|2	WWC3|WWC3	10050693|10050693	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.766000|0.766000	0.43426|0.43426	1.450000|1.450000	0.35134|0.35134	1.967000|1.967000	0.57214|0.57214	0.600000|0.600000	0.82982|0.82982	GGA|TTG		0.552	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		17	478	1	0	3.51602e-12	1	4.04674e-12	17	478				
PAX4	5078	broad.mit.edu	37	7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A	rs374507653		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	ENST00000341640.2	-	9	1103	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_ENST00000378740.2_Intron|PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	311	Transcription repression.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(898-900)Ccc>Tcc		paired box 4		G	SER/PRO	0,4402		0,0,2201	43.0	42.0	42.0		898	-2.6	0.0	7		42	1,8599		0,1,4299	no	missense	PAX4	NM_006193.2	74	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	300/344	127251252	1,13001	2201	4300	6501	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251252G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.898C>T	7.37:g.127251252G>A	ENSP00000339906:p.Pro300Ser					PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000378740.2_Intron	p.P300S	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			9	1103	-			311			Transcription repression.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.898C>T	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428925	0.43122	0.0	1.16E-4	ENSG00000106331	ENST00000341640;ENST00000463946	D;D	0.93859	-3.3;-3.17	5.11	-2.58	0.06228	.	3.364860	0.00839	N	0.001732	D	0.85375	0.5682	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.14023	0.01;0.002	T	0.75772	-0.3200	10	0.11794	T	0.64	.	5.7756	0.18277	0.4938:0.0:0.3752:0.1311	.	300;298	O43316-4;G3V4Q1	.;.	S	300;298	ENSP00000339906:P300S;ENSP00000451923:P298S	ENSP00000339906:P300S	P	-	1	0	PAX4	127038488	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.297000	0.08276	-0.502000	0.06596	-0.140000	0.14226	CCC		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			3	3	0	0	0	1	0	3	3				
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4.0	5.0	5.0					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			2	5	1	0	6.4e-05	1	6.84912e-05	2	5				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	104	0	0	0	1	0	5	104				
SPP2	6694	broad.mit.edu	37	2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	ENST00000168148.3	+	7	713	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	209					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(625-627)Gac>Tac		secreted phosphoprotein 2, 24kDa							103.0	97.0	99.0					2																	234978646		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234978646G>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.625G>T	2.37:g.234978646G>T	ENSP00000168148:p.Asp209Tyr					SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	7	713	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	209					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.625G>T	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058916	0.36277	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.49432	0.78;0.78	3.79	3.79	0.43588	.	0.478780	0.18713	N	0.133254	T	0.43612	0.1255	L	0.36672	1.1	0.25982	N	0.982362	P	0.43885	0.82	P	0.45998	0.5	T	0.38134	-0.9675	10	0.66056	D	0.02	-16.5353	11.4597	0.50202	0.0:0.0:1.0:0.0	.	209	Q13103	SPP24_HUMAN	Y	209;209;129	ENSP00000362466:D209Y;ENSP00000168148:D209Y	ENSP00000168148:D209Y	D	+	1	0	SPP2	234643385	0.669000	0.27502	0.894000	0.35097	0.052000	0.14988	2.221000	0.42917	2.419000	0.82065	0.585000	0.79938	GAC		0.443	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		3	57	1	0	0.0215528	1	0.0222834	3	57				
TRIM15	89870	broad.mit.edu	37	6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	ENST00000376694.4	+	5	1218	c.749T>C	c.(748-750)tTt>tCt	p.F250S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	250					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(748-750)tTt>tCt		tripartite motif containing 15							106.0	102.0	103.0					6																	30138295		2203	4300	6503	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138295T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.749T>C	6.37:g.30138295T>C	ENSP00000365884:p.Phe250Ser					TRIM15_ENST00000376688.1_Intron	p.F250S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			5	1218	+			250					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.749T>C	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527438	0.27299	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.55413	0.52	5.52	3.03	0.35002	.	0.111886	0.40302	N	0.001121	T	0.21881	0.0527	L	0.55213	1.73	0.80722	D	1	B	0.22800	0.075	B	0.17098	0.017	T	0.07654	-1.0761	10	0.17832	T	0.49	.	4.9019	0.13779	0.1618:0.0891:0.0:0.7491	.	250	Q9C019	TRI15_HUMAN	S	181;250	ENSP00000365884:F250S	ENSP00000365884:F250S	F	+	2	0	TRIM15	30246274	0.001000	0.12720	0.990000	0.47175	0.673000	0.39480	0.225000	0.17757	0.931000	0.37242	0.472000	0.43445	TTT		0.458	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		7	63	0	0	0	1	0	7	63				
SLIT1	6585	broad.mit.edu	37	10	98924609	98924609	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:98924609T>C	ENST00000266058.4	-	2	481	c.236A>G	c.(235-237)aAt>aGt	p.N79S	ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.M505V|SLIT1_ENST00000371070.4_Missense_Mutation_p.N79S|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N79S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	79					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCAAAGTCATTCTTATGGAT	0.622																																						ENST00000453547.2																			0											c.(1513-1515)Atg>Gtg									157.0	133.0	142.0					10																	98924609		2203	4300	6503	SO:0001583	missense	0							g.chr10:98924609T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.236A>G	10.37:g.98924609T>C	ENSP00000266058:p.Asn79Ser					SLIT1_ENST00000266058.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371070.4_Missense_Mutation_p.N79S|SLIT1_ENST00000371041.3_Missense_Mutation_p.N79S|SLIT1_ENST00000456008.2_5'UTR	p.M505V							12	1512	-								Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1513A>G	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314405|2.314405	0.40996|0.40996	.|.	.|.	ENSG00000213390|ENSG00000187122	ENST00000453547|ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T|T;T;T;T	0.06933|0.55234	3.24|0.53;0.53;1.88;0.53	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.048752	.|0.85682	.|D	.|0.000000	T|T	0.38401|0.38401	0.1039|0.1039	N|N	0.21583|0.21583	0.68|0.68	0.47778|0.47778	D|D	0.999512|0.999512	.|B;B;B	.|0.12013	.|0.001;0.001;0.005	.|B;B;B	.|0.12837	.|0.006;0.004;0.008	T|T	0.17561|0.17561	-1.0365|-1.0365	7|10	0.44086|0.28530	T|T	0.13|0.3	.|.	13.4236|13.4236	0.61011|0.61011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|79;79;79	.|E7EWQ8;O75093-2;O75093	.|.;.;SLIT1_HUMAN	V|S	505|79;79;79;79;62;79;79	ENSP00000414774:M505V|ENSP00000266058:N79S;ENSP00000360109:N79S;ENSP00000315005:N62S;ENSP00000360080:N79S	ENSP00000414774:M505V|ENSP00000266058:N79S	M|N	-|-	1|2	0|0	ARHGAP19|SLIT1	98914599|98914599	0.986000|0.986000	0.35501|0.35501	0.991000|0.991000	0.47740|0.47740	0.980000|0.980000	0.70556|0.70556	1.954000|1.954000	0.40362|0.40362	2.002000|2.002000	0.58637|0.58637	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		84	85	0	0	0	1	0	84	85				
CT55	54967	broad.mit.edu	37	X	134303695	134303695	+	Silent	SNP	G	G	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	ENST00000276241.6	-	2	328	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_ENST00000344129.2_Silent_p.T34T	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(100-102)acC>acG		chromosome X open reading frame 48							73.0	55.0	61.0					X																	134303695		2203	4300	6503	SO:0001819	synonymous_variant	54967							g.chrX:134303695G>C																												ENST00000276241.6:c.102C>G	X.37:g.134303695G>C						CXorf48_ENST00000276241.6_Silent_p.T34T	p.T34T	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			2	328	-	Acute lymphoblastic leukemia(192;0.000127)		34					Q9NWY8	Silent	SNP	ENST00000276241.6	37	c.102C>G	CCDS35400.1																																																																																				0.433	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			16	31	0	0	0	1	0	16	31				
HIST1H3E	8353	broad.mit.edu	37	6	26225733	26225733	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:26225733C>T	ENST00000360408.1	+	1	351	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGCCAAACGCGTGACCATCA	0.557											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(349-351)cgC>cgT		histone cluster 1, H3e							98.0	98.0	98.0					6																	26225733		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225733C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.351C>T	6.37:g.26225733C>T			OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.R117R	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	351	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	117					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.351C>T	CCDS4596.1																																																																																				0.557	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		4	105	0	0	0	1	0	4	105				
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572																																						ENST00000419820.1																			0																																																			0							g.chr1:144598726A>C																													1.37:g.144598726A>C														0	654	+									RNA	SNP	ENST00000419820.1	37																																																																																						0.572	RP11-640M9.2-011	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000038365.1			3	33	0	0	0	1	0	3	33				
MCF2	4168	broad.mit.edu	37	X	138689854	138689854	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	ENST00000370576.4	-	12	1695	c.1486A>C	c.(1486-1488)Aag>Cag	p.K496Q	MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000520602.1_Missense_Mutation_p.K556Q|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1666-1668)Aag>Cag		MCF.2 cell line derived transforming sequence							52.0	47.0	49.0					X																	138689854		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138689854T>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1486A>C	X.37:g.138689854T>G	ENSP00000359608:p.Lys496Gln					MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370576.4_Missense_Mutation_p.K496Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q	p.K556Q			P10911	MCF2_HUMAN			15	1951	-	Acute lymphoblastic leukemia(192;0.000127)		496			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1666A>C	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320928	0.23994	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.75	3.48	0.39840	Dbl homology (DH) domain (3);	0.294263	0.39146	N	0.001446	T	0.45013	0.1321	M	0.80183	2.485	0.52099	D	0.999942	B;B;B;B;B;B;B;B	0.23650	0.001;0.015;0.01;0.001;0.046;0.002;0.089;0.001	B;B;B;B;B;B;B;B	0.28139	0.015;0.016;0.009;0.009;0.033;0.024;0.086;0.009	T	0.30563	-0.9974	10	0.33141	T	0.24	.	10.117	0.42596	0.0:0.0:0.2134:0.7866	.	572;641;457;496;496;641;512;496	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	Q	556;496;457;641;556;99;572;496;512	ENSP00000427745:K556Q;ENSP00000359608:K496Q;ENSP00000438155:K457Q;ENSP00000359610:K641Q;ENSP00000397055:K556Q;ENSP00000405848:K99Q;ENSP00000430276:K572Q;ENSP00000359605:K496Q;ENSP00000342204:K512Q	ENSP00000342204:K512Q	K	-	1	0	MCF2	138517520	1.000000	0.71417	0.956000	0.39512	0.235000	0.25334	5.101000	0.64566	0.496000	0.27904	0.437000	0.28790	AAG		0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		4	53	0	0	0	1	0	4	53				
PAAF1	80227	broad.mit.edu	37	11	73610227	73610227	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:73610227G>T	ENST00000310571.3	+	5	372	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C|PAAF1_ENST00000544909.1_Missense_Mutation_p.G108C|PAAF1_ENST00000543079.1_3'UTR	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	107					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGGAGGTCTTGGTGTGTCTTC	0.388																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(322-324)Ggt>Tgt		proteasomal ATPase-associated factor 1							103.0	101.0	102.0					11																	73610227		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73610227G>T	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.319G>T	11.37:g.73610227G>T	ENSP00000311665:p.Gly107Cys					PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G107C|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C	p.G108C			Q9BRP4	PAAF1_HUMAN			3	579	+	Breast(11;7.42e-05)		107					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.322G>T	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944859	0.73672	.	.	ENSG00000175575	ENST00000310571;ENST00000504441;ENST00000543814;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	4.65	4.65	0.58169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.70928	0.3280	L	0.49455	1.56	0.47584	D	0.999466	D;P	0.89917	1.0;0.613	D;B	0.97110	1.0;0.291	T	0.73382	-0.4000	10	0.56958	D	0.05	-13.3785	16.0802	0.81001	0.0:0.0:1.0:0.0	.	90;107	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	C	107;90;90;90;90;90;85;108	ENSP00000311665:G107C;ENSP00000439747:G90C;ENSP00000438894:G90C;ENSP00000438124:G90C;ENSP00000441494:G90C;ENSP00000365564:G90C;ENSP00000443473:G85C;ENSP00000438071:G108C	ENSP00000311665:G107C	G	+	1	0	PAAF1	73287875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.018000	0.64054	2.129000	0.65627	0.563000	0.77884	GGT		0.388	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		3	56	1	0	2.56e-06	1	2.78857e-06	3	56				
RPGRIP1	57096	broad.mit.edu	37	14	21770676	21770676	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:21770676C>G	ENST00000400017.2	+	4	520	c.520C>G	c.(520-522)Cct>Gct	p.P174A	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	174					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACACAGCCCCTCCATCGTT	0.468																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(520-522)Cct>Gct		retinitis pigmentosa GTPase regulator interacting protein 1							50.0	51.0	51.0					14																	21770676		1949	4146	6095	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21770676C>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.520C>G	14.37:g.21770676C>G	ENSP00000382895:p.Pro174Ala					RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A	p.P174A			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	4	520	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	174					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.520C>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991729	0.54041	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	L	0.58101	1.795	0.80722	D	1	D	0.58620	0.983	P	0.53313	0.723	T	0.08432	-1.0722	10	0.18710	T	0.47	-15.2667	15.2388	0.73452	0.0:1.0:0.0:0.0	.	174	Q96KN7	RPGR1_HUMAN	A	174	ENSP00000450445:P174A;ENSP00000451219:P174A;ENSP00000382895:P174A;ENSP00000206660:P174A	ENSP00000206660:P174A	P	+	1	0	RPGRIP1	20840516	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	3.582000	0.53921	2.582000	0.87167	0.650000	0.86243	CCT		0.468	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		2	10	0	0	0	1	0	2	10				
CHPF	79586	broad.mit.edu	37	2	220406861	220406861	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:220406861G>A	ENST00000243776.6	-	2	613	c.365C>T	c.(364-366)gCg>gTg	p.A122V	CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000535926.1_5'UTR	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	122					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCAGCACCGCCACCAGCAG	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(364-366)gCg>gTg		chondroitin polymerizing factor							6.0	8.0	7.0					2																	220406861		2147	4219	6366	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406861G>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.365C>T	2.37:g.220406861G>A	ENSP00000243776:p.Ala122Val		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|CHPF_ENST00000535926.1_5'UTR	p.A122V	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	613	-		Renal(207;0.0183)	122					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.365C>T	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868138	0.91587	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.12255	2.7	4.38	4.38	0.52667	.	0.078711	0.52532	D	0.000078	T	0.23926	0.0579	L	0.49126	1.545	0.80722	D	1	D;D	0.67145	0.996;0.965	P;P	0.56216	0.794;0.562	T	0.00458	-1.1727	10	0.72032	D	0.01	-12.842	12.0438	0.53469	0.0:0.3245:0.6755:0.0	.	122;122	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	V	122	ENSP00000243776:A122V	ENSP00000243776:A122V	A	-	2	0	CHPF	220115105	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	4.428000	0.59894	2.456000	0.83038	0.448000	0.29417	GCG		0.677	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		2	4	0	0	0	1	0	2	4				
DNAH11	8701	broad.mit.edu	37	7	21826380	21826380	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:21826380G>A	ENST00000409508.3	+	59	9767	c.9736G>A	c.(9736-9738)Gga>Aga	p.G3246R	DNAH11_ENST00000328843.6_Missense_Mutation_p.G3253R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3253	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCTTCATGGGAAAGGTATC	0.453									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9757-9759)Gga>Aga		dynein, axonemal, heavy chain 11							144.0	139.0	140.0					7																	21826380		1901	4130	6031	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826380G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9736G>A	7.37:g.21826380G>A	ENSP00000475939:p.Gly3246Arg					DNAH11_ENST00000409508.3_Missense_Mutation_p.G3246R	p.G3253R			Q96DT5	DYH11_HUMAN			60	9788	+			3253			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9757G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.305339	0.81247	.	.	ENSG00000105877	ENST00000328843	T	0.75154	-0.91	6.03	6.03	0.97812	Dynein heavy chain, coiled coil stalk (1);	0.058497	0.64402	D	0.000002	D	0.87720	0.6248	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.76575	0.988	D	0.87804	0.2627	9	0.72032	D	0.01	.	20.1519	0.98089	0.0:0.0:1.0:0.0	.	3253	Q96DT5	DYH11_HUMAN	R	3253	ENSP00000330671:G3253R	ENSP00000330671:G3253R	G	+	1	0	DNAH11	21792905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.345000	0.72995	2.861000	0.98227	0.655000	0.94253	GGA		0.453	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	247	0	0	0	1	0	7	247				
OR56A1	120796	broad.mit.edu	37	11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	ENST00000316650.5	-	1	491	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(454-456)aGt>aTt		olfactory receptor, family 56, subfamily A, member 1							151.0	129.0	137.0					11																	6048480		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048480C>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.455G>T	11.37:g.6048480C>A	ENSP00000321246:p.Ser152Ile						p.S152I	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	491	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	152					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.455G>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	1.519	-0.547465	0.04024	.	.	ENSG00000180934	ENST00000316650	T	0.31769	1.48	4.16	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.336550	0.21876	N	0.067812	T	0.19046	0.0457	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13980	-1.0489	10	0.66056	D	0.02	.	4.7157	0.12894	0.1332:0.4339:0.3482:0.0847	.	152	Q8NGH5	O56A1_HUMAN	I	152	ENSP00000321246:S152I	ENSP00000321246:S152I	S	-	2	0	OR56A1	6005056	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.384000	0.07389	-0.204000	0.10235	-0.176000	0.13171	AGT		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		7	106	1	0	0.00621372	1	0.00653512	7	106				
PTPN21	11099	broad.mit.edu	37	14	88946264	88946264	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:88946264G>A	ENST00000556564.1	-	13	1795	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	504					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCGCTGGCGAGGGGAGCTG	0.701																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1510-1512)tCg>tTg		protein tyrosine phosphatase, non-receptor type 21							35.0	43.0	40.0					14																	88946264		2202	4299	6501	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946264G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1511C>T	14.37:g.88946264G>A	ENSP00000452414:p.Ser504Leu					PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L	p.S504L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1795	-			504						Missense_Mutation	SNP	ENST00000556564.1	37	c.1511C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	5.720	0.317420	0.10845	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72615	-0.67;-0.67	5.35	5.35	0.76521	.	0.207171	0.43110	D	0.000603	T	0.59689	0.2212	M	0.62723	1.935	0.09310	N	1	P	0.43750	0.816	B	0.31101	0.124	T	0.58618	-0.7605	10	0.11485	T	0.65	.	13.9684	0.64223	0.0:0.0:0.8483:0.1517	.	504	Q16825	PTN21_HUMAN	L	504	ENSP00000330276:S504L;ENSP00000452414:S504L	ENSP00000330276:S504L	S	-	2	0	PTPN21	88016017	1.000000	0.71417	0.058000	0.19502	0.107000	0.19398	5.550000	0.67268	2.509000	0.84616	0.561000	0.74099	TCG		0.701	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			4	86	0	0	0	1	0	4	86				
SEMA4D	10507	broad.mit.edu	37	9	91994102	91994102	+	Silent	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2104-2106)gcG>gcA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							74.0	73.0	74.0					9																	91994102		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994102C>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2106G>A	9.37:g.91994102C>T						SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A	p.A702A			Q92854	SEM4D_HUMAN			16	2882	-			702					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.2106G>A	CCDS6685.1																																																																																				0.617	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		4	55	0	0	0	1	0	4	55				
GNPAT	8443	broad.mit.edu	37	1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T	rs569550123		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	ENST00000366647.4	+	9	1358	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	397					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.001					ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1189-1191)Cgg>Tgg		glyceronephosphate O-acyltransferase							106.0	100.0	102.0					1																	231403559		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231403559C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1189C>T	1.37:g.231403559C>T	ENSP00000355607:p.Arg397Trp					GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	p.R397W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			9	1358	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	397					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1189C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969816	0.74246	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.49720	0.77;0.77;0.77	5.09	2.83	0.33086	.	1.237240	0.05353	N	0.532231	T	0.56247	0.1972	M	0.61703	1.905	0.26765	N	0.969922	D;D	0.69078	0.995;0.997	P;P	0.52343	0.517;0.696	T	0.41431	-0.9509	10	0.87932	D	0	.	6.283	0.21017	0.0:0.6013:0.0:0.3987	.	336;397	B4DNM9;O15228	.;GNPAT_HUMAN	W	397;336;387	ENSP00000355607:R397W;ENSP00000355606:R336W;ENSP00000411640:R387W	ENSP00000355606:R336W	R	+	1	2	GNPAT	229470182	0.979000	0.34478	0.948000	0.38648	0.986000	0.74619	3.754000	0.55189	1.129000	0.42072	0.591000	0.81541	CGG		0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			3	52	0	0	0	1	0	3	52				
ZNF567	163081	broad.mit.edu	37	19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	ENST00000536254.2	+	6	1346	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	ZNF567_ENST00000585696.1_Missense_Mutation_p.R344H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1030-1032)cGc>cAc		zinc finger protein 567							71.0	69.0	70.0					19																	37210750		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210750G>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1124G>A	19.37:g.37210750G>A	ENSP00000441838:p.Arg375His					ZNF567_ENST00000536254.2_Missense_Mutation_p.R375H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron	p.R344H			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2261	+	Esophageal squamous(110;0.198)		375					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1031G>A		.	.	.	.	.	.	.	.	.	.	G	10.13	1.267031	0.23136	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07567	3.18;3.18;3.18	4.66	0.996	0.19844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000716	T	0.12433	0.0302	L	0.39692	1.235	0.09310	N	1	D;D	0.65815	0.995;0.986	P;P	0.57679	0.825;0.648	T	0.04678	-1.0934	10	0.62326	D	0.03	.	7.0702	0.25173	0.0:0.269:0.4251:0.3058	.	375;344	Q8N184;F8WEL6	ZN567_HUMAN;.	H	375;319;344;374;344	ENSP00000441838:R375H;ENSP00000353957:R344H;ENSP00000376003:R344H	ENSP00000353957:R344H	R	+	2	0	ZNF567	41902590	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-0.417000	0.07088	0.654000	0.30846	0.561000	0.74099	CGC		0.443	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		6	75	0	0	0	1	0	6	75				
TPRX1	284355	broad.mit.edu	37	19	48305133	48305133	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:48305133C>T	ENST00000322175.3	-	2	1290	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	TPRX1_ENST00000535759.1_Missense_Mutation_p.D476N|TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	379						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ATAGAGTCATCCCCTTCTTGG	0.512																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1426-1428)Gat>Aat		tetra-peptide repeat homeobox 1							129.0	133.0	132.0					19																	48305133		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305133C>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1135G>A	19.37:g.48305133C>T	ENSP00000323455:p.Asp379Asn					TPRX1_ENST00000322175.3_Missense_Mutation_p.D379N|TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N	p.D476N			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1425	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	379					A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.1426G>A	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	c	12.94	2.088669	0.36855	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94000	-2.16;-3.33	1.29	-2.45	0.06481	.	.	.	.	.	D	0.82384	0.5025	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.69383	-0.5160	9	0.87932	D	0	.	5.1899	0.15205	0.0:0.4137:0.0:0.5863	.	379	Q8N7U7	TPRX1_HUMAN	N	379;476;369	ENSP00000323455:D379N;ENSP00000438832:D476N	ENSP00000323455:D379N	D	-	1	0	TPRX1	52996945	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.396000	0.07278	-0.756000	0.04703	-0.339000	0.08088	GAT		0.512	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		12	158	0	0	0	1	0	12	158				
BCL2L15	440603	broad.mit.edu	37	1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	ENST00000393316.3	-	3	463	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	98					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468																																						ENST00000393316.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9						c.(292-294)Acc>Gcc		BCL2-like 15							75.0	69.0	71.0					1																	114424577		2203	4300	6503	SO:0001583	missense	440603				apoptosis			g.chr1:114424577T>C		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.292A>G	1.37:g.114424577T>C	ENSP00000376992:p.Thr98Ala					BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron	p.T98A	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	463	-	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)	98					A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP	ENST00000393316.3	37	c.292A>G	CCDS30809.1	.	.	.	.	.	.	.	.	.	.	T	0.795	-0.757489	0.03019	.	.	ENSG00000188761	ENST00000393316	T	0.04406	3.63	5.85	-7.12	0.01537	.	1.004100	0.08016	N	0.991176	T	0.00754	0.0025	N	0.13235	0.315	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.49532	-0.8930	10	0.05620	T	0.96	.	16.7842	0.85570	0.0:0.2287:0.0:0.7713	.	98	Q5TBC7	B2L15_HUMAN	A	98	ENSP00000376992:T98A	ENSP00000376992:T98A	T	-	1	0	BCL2L15	114226100	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.903000	0.04084	-1.305000	0.02327	-0.256000	0.11100	ACC		0.468	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		4	39	0	0	0	1	0	4	39				
IGSF10	285313	broad.mit.edu	37	3	151164200	151164201	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:151164200_151164201insT	ENST00000282466.3	-	4	3567_3568	c.3568_3569insA	c.(3568-3570)atgfs	p.M1190fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1190					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.M1190K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATAATAGTCATTGGTGGCTTG	0.396																																						ENST00000282466.3																			1	Substitution - Missense(1)	p.M1190K(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3568-3570)gacfs		immunoglobulin superfamily, member 10																																				SO:0001589	frameshift_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164200_151164201insT	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3569dupA	3.37:g.151164202_151164202dupT	ENSP00000282466:p.Met1190fs						p.D1190fs	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3567_3568	-			1190					Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	ENST00000282466.3	37	c.3568_3569insA	CCDS3160.1																																																																																				0.396	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		20	155						20	155	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7372948	7372950	+	RNA	DEL	ACC	ACC	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr5:7372948_7372950delACC	ENST00000513219.1	-	0	202				CTD-2296D1.5_ENST00000500616.2_lincRNA																							taccatcattaccaccaccacca	0.507																																						ENST00000513219.1																			0																																																			0							g.chr5:7372948_7372950delACC																													5.37:g.7372957_7372959delACC														0	202	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.507	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			4	2						4	2	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169421	108169421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:108169421delC	ENST00000342331.4	+	1	1260	c.429delC	c.(427-429)gtcfs	p.V143fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	142					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGCGCCGTCCCCCAGCGCA	0.721																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(427-429)gtfs		achaete-scute family bHLH transcription factor 4							5.0	7.0	6.0					12																	108169421		2043	4013	6056	SO:0001589	frameshift_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169421delC	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.429delC	12.37:g.108169421delC	ENSP00000345420:p.Val143fs						p.V143fs	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1260	+			142					Q7RTS2	Frame_Shift_Del	DEL	ENST00000342331.4	37	c.429delC	CCDS31894.2																																																																																				0.721	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		2	4						2	4	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19378063	19378063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:19378063delC	ENST00000550708.1	+	1	542	c.470delC	c.(469-471)gccfs	p.A157fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468																																						ENST00000550708.1																			1	Substitution - Missense(1)	p.A157D(1)	lung(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(469-471)gcfs		olfactory receptor, family 11, subfamily H, member 12							168.0	179.0	175.0					14																	19378063		2201	4294	6495	SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378063delC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.470delC	14.37:g.19378063delC	ENSP00000449002:p.Ala157fs						p.A157fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	542	+	all_cancers(95;0.00108)		157						Frame_Shift_Del	DEL	ENST00000550708.1	37	c.470delC	CCDS32017.1																																																																																				0.468	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		11	621						11	621	---	---	---	---
