#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
ACAP3	116983	broad.mit.edu	37	1	1229020	1229020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:1229020delA	ENST00000354700.5	-	24	2631	c.2429delT	c.(2428-2430)ctgfs	p.L810fs	ACAP3_ENST00000353662.3_Frame_Shift_Del_p.L735fs|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	810					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGCCCGCCAGGGCGCCCGG	0.721																																						uc001aeb.2																			0					0						c.(2428-2430)CTGfs		ArfGAP with coiled-coil, ankyrin repeat and PH							4.0	5.0	4.0					1																	1229020		1903	3781	5684	SO:0001589	frameshift_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1229020delA	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2429delT	1.37:g.1229020delA	ENSP00000346733:p.Leu810fs					ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	p.L810fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			24	2503	-			810					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Frame_Shift_Del	DEL	ENST00000354700.5	37	c.2429delT	CCDS19.2																																																																																				0.721	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	
KPRP	448834	broad.mit.edu	37	1	152732806	152732806	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:152732806C>T	ENST00000606109.1	+	1	770	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	KPRP_ENST00000368773.1_Missense_Mutation_p.R248C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	248						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACAGCACCGCTCTCGGAG	0.612																																						uc001fal.1																			0				ovary(4)|pancreas(1)	5						c.(742-744)CGC>TGC		keratinocyte proline-rich protein							56.0	62.0	60.0					1																	152732806		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732806C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.742C>T	1.37:g.152732806C>T	ENSP00000475216:p.Arg248Cys						p.R248C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	800	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		248						Missense_Mutation	SNP	ENST00000606109.1	37	c.742C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587585	0.28268	.	.	ENSG00000203786	ENST00000368773	T	0.14640	2.49	5.56	2.46	0.29980	.	0.000000	0.43579	D	0.000558	T	0.11495	0.0280	L	0.32530	0.975	0.09310	N	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.04607	-1.0939	10	0.87932	D	0	-22.9947	9.1149	0.36750	0.2877:0.5726:0.1398:0.0	.	248	Q5T749	KPRP_HUMAN	C	248	ENSP00000357762:R248C	ENSP00000357762:R248C	R	+	1	0	KPRP	150999430	0.000000	0.05858	0.403000	0.26384	0.004000	0.04260	-0.258000	0.08733	0.803000	0.34113	-0.169000	0.13324	CGC		0.612	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
OR10Z1	128368	broad.mit.edu	37	1	158577000	158577000	+	Missense_Mutation	SNP	G	G	A	rs191031344		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158577000G>A	ENST00000361284.1	+	1	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTTCCTTCGTGTACCTGAG	0.493																																						uc010pio.1																			0				pancreas(1)|skin(1)	2						c.(772-774)GTG>ATG		olfactory receptor, family 10, subfamily Z,		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	200.0	204.0	202.0		772	3.9	1.0	1		202	0,8600		0,0,4300	no	missense	OR10Z1	NM_001004478.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	258/314	158577000	1,13005	2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577000G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.772G>A	1.37:g.158577000G>A	ENSP00000354707:p.Val258Met						p.V258M	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	772	+	all_hematologic(112;0.0378)		258			Helical; Name=6; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.772G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913915	0.17907	2.27E-4	0.0	ENSG00000198967	ENST00000361284	T	0.00051	8.81	5.05	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.147369	0.31797	N	0.007054	T	0.00039	0.0001	N	0.20685	0.6	0.20403	N	0.999905	B	0.06786	0.001	B	0.04013	0.001	T	0.53215	-0.8470	10	0.02654	T	1	.	5.5982	0.17339	0.7673:0.0:0.0824:0.1503	.	258	Q8NGY1	O10Z1_HUMAN	M	258	ENSP00000354707:V258M	ENSP00000354707:V258M	V	+	1	0	OR10Z1	156843624	0.863000	0.29885	1.000000	0.80357	0.842000	0.47809	1.698000	0.37794	0.931000	0.37242	-0.295000	0.09555	GTG		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158650498C>G	ENST00000368147.4	-	5	733	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	185					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(553-555)GAG>CAG		spectrin, alpha, erythrocytic 1							93.0	91.0	92.0					1																	158650498		1885	4123	6008	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650498C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.553G>C	1.37:g.158650498C>G	ENSP00000357129:p.Glu185Gln						p.E185Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	752	-	all_hematologic(112;0.0378)		185			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.553G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382283	0.61845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.07	4.16	0.48862	.	0.000000	0.32640	N	0.005834	T	0.56352	0.1979	M	0.90425	3.115	0.45704	D	0.998619	D	0.76494	0.999	D	0.76575	0.988	T	0.65755	-0.6091	10	0.54805	T	0.06	.	12.438	0.55610	0.0:0.9187:0.0:0.0813	.	185	P02549	SPTA1_HUMAN	Q	185	ENSP00000357130:E185Q;ENSP00000357129:E185Q	ENSP00000357129:E185Q	E	-	1	0	SPTA1	156917122	1.000000	0.71417	0.866000	0.34008	0.298000	0.27526	5.360000	0.66086	1.368000	0.46115	0.650000	0.86243	GAG		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ZNF496	84838	broad.mit.edu	37	1	247464286	247464286	+	Silent	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:247464286C>T	ENST00000294753.4	-	9	1763	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.K469K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	433					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCGTGCGGCTTCTCCTGCT	0.617																																						uc001ico.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1297-1299)AAG>AAA		zinc finger protein 496							62.0	64.0	63.0					1																	247464286		2203	4300	6503	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464286C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1299G>A	1.37:g.247464286C>T						ZNF496_uc009xgv.2_Silent_p.K469K|ZNF496_uc001icp.2_Silent_p.K433K	p.K433K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1764	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		433					Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.1299G>A	CCDS1631.1																																																																																				0.617	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752	
OR2T34	127068	broad.mit.edu	37	1	248737752	248737752	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:248737752C>A	ENST00000328782.2	-	1	328	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTGGATCCCACAGCCTGAC	0.562																																						uc001iep.1																			0				large_intestine(1)|ovary(1)	2						c.(307-309)GGG>TGG		olfactory receptor, family 2, subfamily T,							92.0	83.0	86.0					1																	248737752		2154	4270	6424	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737752C>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.307G>T	1.37:g.248737752C>A	ENSP00000330904:p.Gly103Trp						p.G103W	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	307	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		103			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.307G>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749275	0.30955	.	.	ENSG00000183310	ENST00000328782	T	0.00397	7.57	2.35	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.73217	2.22	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51568	-0.8689	9	0.87932	D	0	.	5.5055	0.16852	0.0:0.7089:0.0:0.2911	.	103	Q8NGX1	O2T34_HUMAN	W	103	ENSP00000330904:G103W	ENSP00000330904:G103W	G	-	1	0	OR2T34	246804375	0.000000	0.05858	0.501000	0.27601	0.158000	0.22134	-0.379000	0.07437	0.207000	0.20607	0.395000	0.25975	GGG		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR5P2	120065	broad.mit.edu	37	11	7818165	7818165	+	Missense_Mutation	SNP	C	C	T	rs569926953	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:7818165C>T	ENST00000329434.2	-	1	355	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V109I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGAAGGACGCATTCGACT	0.483																																						uc001mfp.1																			1	Substitution - Missense(1)	p.V109I(1)	central_nervous_system(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(325-327)GTC>ATC		olfactory receptor, family 5, subfamily P,							96.0	111.0	106.0					11																	7818165		2105	4292	6397	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818165C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.325G>A	11.37:g.7818165C>T	ENSP00000331823:p.Val109Ile						p.V109I	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	325	-			109			Helical; Name=3; (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.325G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	6.601	0.479294	0.12581	.	.	ENSG00000183303	ENST00000329434	T	0.01059	5.39	5.5	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.172021	0.42172	N	0.000756	T	0.00724	0.0024	N	0.11000	0.08	0.18873	N	0.999981	B	0.02656	0.0	B	0.04013	0.001	T	0.49214	-0.8963	10	0.49607	T	0.09	-40.3172	3.5462	0.07829	0.6539:0.1394:0.0739:0.1327	.	109	Q8WZ92	OR5P2_HUMAN	I	109	ENSP00000331823:V109I	ENSP00000331823:V109I	V	-	1	0	OR5P2	7774741	0.000000	0.05858	0.991000	0.47740	0.012000	0.07955	-0.165000	0.09968	0.161000	0.19458	-1.921000	0.00515	GTC		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
TMEM41B	440026	broad.mit.edu	37	11	9305021	9305021	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:9305021A>G	ENST00000528080.1	-	7	1164	c.826T>C	c.(826-828)Tct>Cct	p.S276P		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	276					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCAGAATAGAAAGAACAGCC	0.358																																						uc001mhm.2																			0					0						c.(826-828)TCT>CCT		transmembrane protein 41B isoform 1							68.0	67.0	67.0					11																	9305021		2200	4296	6496	SO:0001583	missense	440026					integral to membrane		g.chr11:9305021A>G	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.826T>C	11.37:g.9305021A>G	ENSP00000433126:p.Ser276Pro					TMEM41B_uc001mhn.1_Missense_Mutation_p.S276P	p.S276P	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1134	-			276			Helical; (Potential).		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	c.826T>C	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721209	0.89205	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.52754	0.65;0.65	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.71036	2.16	0.80722	D	1	P	0.42973	0.796	P	0.52514	0.701	T	0.55854	-0.8075	10	0.18710	T	0.47	-13.2539	16.087	0.81065	1.0:0.0:0.0:0.0	.	276	Q5BJD5	TM41B_HUMAN	P	276	ENSP00000299596:S276P;ENSP00000433126:S276P	ENSP00000299596:S276P	S	-	1	0	TMEM41B	9261597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.207000	0.95064	2.202000	0.70862	0.533000	0.62120	TCT		0.358	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2		
CASP1	834	broad.mit.edu	37	11	104900443	104900443	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:104900443G>A	ENST00000533400.1	-	6	846	c.811C>T	c.(811-813)Cca>Tca	p.P271S	CASP1_ENST00000393136.4_Missense_Mutation_p.P250S|CASP1_ENST00000593315.1_Missense_Mutation_p.P250S|CASP1_ENST00000525825.1_Missense_Mutation_p.P250S|CASP1_ENST00000598974.1_Missense_Mutation_p.P271S|CASP1_ENST00000446369.1_Missense_Mutation_p.P178S|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.P271S|CASP1_ENST00000528974.1_Missense_Mutation_p.P232S|CASP1_ENST00000594519.1_Missense_Mutation_p.P178S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Missense_Mutation_p.P178S|CASP1_ENST00000527979.1_Missense_Mutation_p.P234S|CASP1_ENST00000526568.1_Missense_Mutation_p.P178S	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	271					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTCAAACTTGGGCAGTTCTTG	0.448																																					NSCLC(41;1246 1743 4934)	uc010rve.1																			0				ovary(2)	2						c.(811-813)CCA>TCA		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						117.0	101.0	107.0					11																	104900443		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104900443G>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.811C>T	11.37:g.104900443G>A	ENSP00000433138:p.Pro271Ser					CASP1_uc001pig.2_Missense_Mutation_p.P178S|CASP1_uc001pik.2_Missense_Mutation_p.P234S|CASP1_uc010rvf.1_Missense_Mutation_p.P178S|CASP1_uc010rvg.1_Missense_Mutation_p.P250S|CASP1_uc010rvh.1_Missense_Mutation_p.P178S|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.P271S|CASP1_uc009yxi.2_Missense_Mutation_p.P250S|CASP1_uc010rvj.1_Missense_Mutation_p.P271S|CASP1_uc009yxj.2_Missense_Mutation_p.P116S|CASP1_uc010rvk.1_Missense_Mutation_p.P232S	p.P271S	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	6	828	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	271					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.811C>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374135	0.42105	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.49139	2.1;2.1;2.1;2.1;2.1;0.79;2.1;2.1;0.79;2.1	4.69	4.69	0.59074	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.114304	0.64402	D	0.000013	T	0.67683	0.2919	M	0.79926	2.475	0.40082	D	0.97614	P;D;D;B;B;B;B	0.71674	0.655;0.992;0.998;0.347;0.399;0.347;0.184	B;P;D;B;B;B;B	0.64410	0.213;0.617;0.925;0.135;0.213;0.135;0.07	T	0.70506	-0.4853	10	0.44086	T	0.13	.	15.5592	0.76229	0.0:0.0:1.0:0.0	.	232;178;271;250;271;234;178	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	S	120;178;234;271;271;178;250;250;178;232	ENSP00000435536:P120S;ENSP00000434250:P178S;ENSP00000432340:P234S;ENSP00000433138:P271S;ENSP00000410076:P271S;ENSP00000403260:P178S;ENSP00000376844:P250S;ENSP00000434779:P250S;ENSP00000436875:P178S;ENSP00000434259:P232S	ENSP00000376844:P250S	P	-	1	0	CASP1	104405653	0.294000	0.24380	0.187000	0.23214	0.134000	0.20937	0.872000	0.28037	2.605000	0.88082	0.552000	0.68991	CCA		0.448	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292	
MARS	4141	broad.mit.edu	37	12	57910320	57910320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57910320G>A	ENST00000262027.5	+	21	2793	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	887	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGCTGTAGCTGAGGGGAAACC	0.433																																						uc001sog.2																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2659-2661)GAG>AAG		methionyl-tRNA synthetase	L-Methionine(DB00134)						57.0	55.0	56.0					12																	57910320		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57910320G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2659G>A	12.37:g.57910320G>A	ENSP00000262027:p.Glu887Lys					MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR	p.E887K	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		21	2682	+			887			WHEP-TRS.		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.2659G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075601	0.36662	.	.	ENSG00000166986	ENST00000262027;ENST00000552914	T;T	0.30448	1.53;1.53	5.47	4.52	0.55395	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.62088	1.915	0.80722	D	1	P	0.43578	0.811	B	0.40602	0.334	T	0.06006	-1.0851	10	0.10902	T	0.67	-23.1996	15.005	0.71504	0.0:0.1432:0.8568:0.0	.	887	P56192	SYMC_HUMAN	K	887;206	ENSP00000262027:E887K;ENSP00000449787:E206K	ENSP00000262027:E887K	E	+	1	0	MARS	56196587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.819000	0.69243	2.746000	0.94184	0.561000	0.74099	GAG		0.433	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
DDIT3	1649	broad.mit.edu	37	12	57911096	57911096	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57911096C>A	ENST00000346473.3	-	3	273	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Missense_Mutation_p.D55Y|DDIT3_ENST00000552740.1_Missense_Mutation_p.D55Y|DDIT3_ENST00000547303.1_Missense_Mutation_p.D32Y	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	32					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CCATTTTCATCTGAAGACAGG	0.493			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	uc001soi.2				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	FUS/DDIT3(623)|EWSR1/DDIT3(43)	1	Substitution - Missense(1)	p.D32Y(1)	central_nervous_system(1)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						c.(94-96)GAT>TAT		DNA-damage-inducible transcript 3							67.0	60.0	62.0					12																	57911096		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57911096C>A	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.94G>T	12.37:g.57911096C>A	ENSP00000340671:p.Asp32Tyr					MARS_uc001sof.1_RNA|DDIT3_uc009zps.2_Missense_Mutation_p.D55Y|DDIT3_uc009zpt.2_Missense_Mutation_p.D55Y	p.D32Y	NM_004083	NP_004074	P35638	DDIT3_HUMAN			3	274	-			32					F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.94G>T	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584256	0.86748	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.63096	0.05;-0.02;0.05;-0.02	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.34521	1.04	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.74348	0.983;0.945	T	0.73845	-0.3854	10	0.87932	D	0	-18.5436	17.6367	0.88124	0.0:1.0:0.0:0.0	.	55;32	F8VS99;P35638	.;DDIT3_HUMAN	Y	32;55;32;55;55	ENSP00000447188:D32Y;ENSP00000448665:D55Y;ENSP00000340671:D32Y;ENSP00000447803:D55Y	ENSP00000340671:D32Y	D	-	1	0	DDIT3	56197363	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.821000	0.75272	2.776000	0.95493	0.655000	0.94253	GAT		0.493	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083	
PIP4K2C	79837	broad.mit.edu	37	12	57994645	57994645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994645G>T	ENST00000354947.5	+	8	881	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.D241Y|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.D289Y|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.D271Y			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	289	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552																																						uc001sou.2																			0				central_nervous_system(2)|lung(1)	3						c.(865-867)GAC>TAC		phosphatidylinositol-5-phosphate 4-kinase, type							204.0	203.0	204.0					12																	57994645		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994645G>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.865G>T	12.37:g.57994645G>T	ENSP00000347032:p.Asp289Tyr					PIP4K2C_uc001sot.2_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241Y	p.D289Y	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			8	996	+	Melanoma(17;0.122)		289			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.865G>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432472	0.62844	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.47	4.47	0.54385	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.159885	0.52532	D	0.000065	T	0.48874	0.1524	L	0.48935	1.535	0.80722	D	1	P;B;D	0.71674	0.596;0.239;0.998	B;B;D	0.74348	0.434;0.34;0.983	T	0.51084	-0.8750	10	0.87932	D	0	-20.3027	16.433	0.83860	0.0:0.0:1.0:0.0	.	241;271;289	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	Y	241;289;271;289	ENSP00000412035:D241Y;ENSP00000439878:D289Y;ENSP00000447390:D271Y;ENSP00000347032:D289Y	ENSP00000347032:D289Y	D	+	1	0	PIP4K2C	56280912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.089000	0.94137	2.480000	0.83734	0.555000	0.69702	GAC		0.552	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
PIP4K2C	79837	broad.mit.edu	37	12	57994848	57994848	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994848C>G	ENST00000354947.5	+	8	1084	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.I308M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.I356M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.I338M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	356	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562																																						uc001sou.2																			0				central_nervous_system(2)|lung(1)	3						c.(1066-1068)ATC>ATG		phosphatidylinositol-5-phosphate 4-kinase, type							67.0	69.0	68.0					12																	57994848		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994848C>G	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1068C>G	12.37:g.57994848C>G	ENSP00000347032:p.Ile356Met					PIP4K2C_uc001sot.2_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.1_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.1_Missense_Mutation_p.I308M	p.I356M	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			8	1199	+	Melanoma(17;0.122)		356			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.1068C>G	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107122	0.37145	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.38	4.38	0.52667	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.164162	0.52532	D	0.000074	T	0.39009	0.1062	L	0.52905	1.665	0.51767	D	0.999939	P;B;P	0.36974	0.571;0.447;0.576	B;B;P	0.44673	0.285;0.285;0.457	T	0.26292	-1.0107	10	0.45353	T	0.12	-15.2513	16.2256	0.82288	0.0:1.0:0.0:0.0	.	308;338;356	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	M	308;356;338;356	ENSP00000412035:I308M;ENSP00000439878:I356M;ENSP00000447390:I338M;ENSP00000347032:I356M	ENSP00000347032:I356M	I	+	3	3	PIP4K2C	56281115	0.684000	0.27642	1.000000	0.80357	0.959000	0.62525	0.783000	0.26802	2.433000	0.82419	0.484000	0.47621	ATC		0.562	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	
TSPAN31	6302	broad.mit.edu	37	12	58140433	58140433	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:58140433G>A	ENST00000257910.3	+	4	648	c.374G>A	c.(373-375)aGa>aAa	p.R125K	CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000547472.1_Missense_Mutation_p.R42K|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	125					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAACTGGAAAGAAGTTTTGAT	0.448																																						uc001spt.2																			0					0						c.(373-375)AGA>AAA		sarcoma amplified sequence							138.0	129.0	132.0					12																	58140433		2203	4300	6503	SO:0001583	missense	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58140433G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.374G>A	12.37:g.58140433G>A	ENSP00000257910:p.Arg125Lys					TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_Missense_Mutation_p.R47K	p.R125K	NM_005981	NP_005972	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	528	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		125			Extracellular (Potential).		O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.374G>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019115	0.19355	.	.	ENSG00000135452	ENST00000257910;ENST00000552816;ENST00000547472;ENST00000548167	T;D;T;D	0.86562	-1.14;-2.14;-1.14;-2.14	4.91	2.94	0.34122	.	0.186140	0.52532	D	0.000080	T	0.63224	0.2493	N	0.04245	-0.25	0.33316	D	0.566652	B	0.02656	0.0	B	0.06405	0.002	T	0.59506	-0.7442	10	0.02654	T	1	-6.153	3.71	0.08416	0.0873:0.3076:0.446:0.159	.	125	Q12999	TSN31_HUMAN	K	125;47;42;47	ENSP00000257910:R125K;ENSP00000449312:R47K;ENSP00000449199:R42K;ENSP00000449131:R47K	ENSP00000257910:R125K	R	+	2	0	TSPAN31	56426700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.330000	0.33781	1.420000	0.47138	-0.312000	0.09012	AGA		0.448	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1		
TPTE2	93492	broad.mit.edu	37	13	20066995	20066995	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr13:20066995A>T	ENST00000400230.2	-	3	158	c.114T>A	c.(112-114)agT>agA	p.S38R	TPTE2_ENST00000457266.2_Missense_Mutation_p.S38R|TPTE2_ENST00000382978.1_Missense_Mutation_p.S38R|TPTE2_ENST00000400103.2_Missense_Mutation_p.S38R|TPTE2_ENST00000390680.2_Missense_Mutation_p.S38R|TPTE2_ENST00000382975.4_Missense_Mutation_p.S38R|TPTE2_ENST00000255310.6_Missense_Mutation_p.S38R|TPTE2_ENST00000382977.4_Missense_Mutation_p.S38R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	38					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTCACCTTTTACTGATAGGTG	0.388																																						uc001umd.2																			0					0						c.(112-114)AGT>AGA		TPTE and PTEN homologous inositol lipid							105.0	93.0	97.0					13																	20066995		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20066995A>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.114T>A	13.37:g.20066995A>T	ENSP00000383089:p.Ser38Arg					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.S38R|TPTE2_uc001ume.2_Missense_Mutation_p.S38R|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.S38R	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	325	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	38					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.114T>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	A	7.677	0.688156	0.14973	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97041	-3.76;-4.22;-3.53;-3.6;-3.6;-3.53;-3.76;-4.22	1.03	1.03	0.20045	.	0.663214	0.12986	U	0.422896	D	0.96367	0.8815	L	0.44542	1.39	0.09310	N	1	D;D;B	0.64830	0.972;0.994;0.22	P;D;B	0.71870	0.766;0.975;0.08	D	0.89562	0.3807	9	.	.	.	-5.951	4.2725	0.10794	1.0:0.0:0.0:0.0	.	38;38;38	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	R	38	ENSP00000372438:S38R;ENSP00000382974:S38R;ENSP00000383089:S38R;ENSP00000255310:S38R;ENSP00000375098:S38R;ENSP00000372437:S38R;ENSP00000372435:S38R;ENSP00000442218:S38R	.	S	-	3	2	TPTE2	18964995	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.560000	0.23500	0.706000	0.31912	0.379000	0.24179	AGT		0.388	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(913-915)AAAfs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_uc001war.1_Frame_Shift_Del_p.K201fs	p.K305fs	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	6	1009	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.915delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
PCNX	22990	broad.mit.edu	37	14	71495452	71495452	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:71495452A>C	ENST00000304743.2	+	16	3948	c.3502A>C	c.(3502-3504)Atc>Ctc	p.I1168L	PCNX_ENST00000439984.3_Missense_Mutation_p.I1057L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1168L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1168						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTACAGTTTTATCTGTAGCAT	0.313																																						uc001xmo.2																			0				ovary(1)	1						c.(3502-3504)ATC>CTC		pecanex-like 1							118.0	109.0	112.0					14																	71495452		2203	4299	6502	SO:0001583	missense	22990					integral to membrane		g.chr14:71495452A>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3502A>C	14.37:g.71495452A>C	ENSP00000304192:p.Ile1168Leu					PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	p.I1168L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	16	3948	+			1168			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3502A>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.032|0.032	-1.325350|-1.325350	0.01309|0.01309	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.08193|.	3.57;3.58;3.12|.	5.29|5.29	-0.0362|-0.0362	0.13889|0.13889	.|.	0.343346|.	0.31507|.	N|.	0.007534|.	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.04387|0.04387	-0.21|-0.21	0.28840|0.28840	N|N	0.896671|0.896671	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.0|.	T|T	0.31223|0.31223	-0.9951|-0.9951	10|5	0.06365|.	T|.	0.9|.	.|.	5.8026|5.8026	0.18422|0.18422	0.5768:0.2722:0.151:0.0|0.5768:0.2722:0.151:0.0	.|.	1168;1057;1168|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|F	1168;1168;1057|226	ENSP00000304192:I1168L;ENSP00000238570:I1168L;ENSP00000396617:I1057L|.	ENSP00000238570:I1168L|.	I|L	+|+	1|3	0|2	PCNX|PCNX	70565205|70565205	0.309000|0.309000	0.24518|0.24518	0.561000|0.561000	0.28357|0.28357	0.049000|0.049000	0.14656|0.14656	0.979000|0.979000	0.29500|0.29500	-0.162000|-0.162000	0.10964|0.10964	-0.313000|-0.313000	0.08912|0.08912	ATC|TTA		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
TJP1	7082	broad.mit.edu	37	15	30003151	30003151	+	Missense_Mutation	SNP	T	T	C	rs200549140		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:30003151T>C	ENST00000346128.6	-	24	4730	c.4256A>G	c.(4255-4257)tAt>tGt	p.Y1419C	TJP1_ENST00000400011.2_Missense_Mutation_p.Y1343C|TJP1_ENST00000356107.6_Missense_Mutation_p.Y1419C|TJP1_ENST00000545208.2_Missense_Mutation_p.Y1339C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1419					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGGTTCATAGCGTTTCTC	0.512																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4255-4257)TAT>TGT		tight junction protein 1 isoform a							171.0	183.0	179.0					15																	30003151		2033	4197	6230	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003151T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4256A>G	15.37:g.30003151T>C	ENSP00000281537:p.Tyr1419Cys					TJP1_uc010azl.2_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.2_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.2_Missense_Mutation_p.Y1339C	p.Y1419C	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4731	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1419					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4256A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435010	0.43224	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T	0.56444	0.46;0.46;0.98	5.62	3.24	0.37175	.	0.184388	0.49305	N	0.000154	T	0.66557	0.2801	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.65212	-0.6223	10	0.87932	D	0	.	8.357	0.32335	0.0:0.069:0.1327:0.7983	.	1412;1339;1419;1343	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	C	1419;1343;1419;1339;1339	ENSP00000281537:Y1419C;ENSP00000382890:Y1343C;ENSP00000441202:Y1419C	ENSP00000281537:Y1419C	Y	-	2	0	TJP1	27790443	1.000000	0.71417	0.920000	0.36463	0.194000	0.23727	2.949000	0.49074	0.374000	0.24650	0.533000	0.62120	TAT		0.512	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
ARNT2	9915	broad.mit.edu	37	15	80883952	80883952	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:80883952G>A	ENST00000303329.4	+	18	2127	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	ARNT2_ENST00000533983.1_Silent_p.S643S|ARNT2_ENST00000527771.1_Silent_p.S643S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	654					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCCTCGGAAGTCTGGT	0.567																																						uc002bfr.2																			0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1960-1962)TCG>TCA		aryl hydrocarbon receptor nuclear translocator							102.0	103.0	103.0					15																	80883952		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80883952G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1962G>A	15.37:g.80883952G>A						ARNT2_uc010unm.1_Silent_p.S643S|ARNT2_uc002bfs.2_Silent_p.S643S	p.S654S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		18	2128	+			654					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1962G>A	CCDS32307.1																																																																																				0.567	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
RSL1D1	26156	broad.mit.edu	37	16	11931690	11931690	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:11931690G>T	ENST00000571133.1	-	9	1499	c.1427C>A	c.(1426-1428)aCc>aAc	p.T476N	RSL1D1_ENST00000542106.1_Missense_Mutation_p.T256N	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	476					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTTGGGGGTGTGGGAAGC	0.468																																						uc002dbp.1																			0					0						c.(1426-1428)ACC>AAC		ribosomal L1 domain containing 1							171.0	185.0	180.0					16																	11931690		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11931690G>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1427C>A	16.37:g.11931690G>T	ENSP00000460871:p.Thr476Asn					RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	p.T476N	NM_015659	NP_056474	O76021	RL1D1_HUMAN			9	1500	-			476					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.1427C>A	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449307	0.43531	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.47177	0.85	4.8	4.8	0.61643	.	0.457752	0.24727	N	0.036089	T	0.52058	0.1711	L	0.43923	1.385	0.36438	D	0.865301	D	0.58268	0.982	P	0.52793	0.709	T	0.62520	-0.6837	10	0.72032	D	0.01	-6.3852	14.0871	0.64964	0.0:0.0:1.0:0.0	.	476	O76021	RL1D1_HUMAN	N	475;476;256	ENSP00000442089:T256N	ENSP00000347897:T475N	T	-	2	0	RSL1D1	11839191	0.995000	0.38212	0.186000	0.23195	0.008000	0.06430	2.606000	0.46291	2.586000	0.87340	0.563000	0.77884	ACC		0.468	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	
SMG1	23049	broad.mit.edu	37	16	18875133	18875133	+	Silent	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:18875133A>T	ENST00000446231.2	-	25	3946	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	SMG1_ENST00000389467.3_Silent_p.S1178S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1178	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCAGGGGAAGAGTCAGTCG	0.388																																						uc002dfm.2																			0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(3532-3534)TCT>TCA		PI-3-kinase-related kinase SMG-1							25.0	26.0	26.0					16																	18875133		911	2062	2973	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875133A>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3534T>A	16.37:g.18875133A>T						SMG1_uc010bwb.2_Silent_p.S1038S	p.S1178S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			25	3897	-			1178			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.3534T>A	CCDS45430.1																																																																																				0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs397516437|rs28934573		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr17:7577558_7577566delGGAACTGTT	ENST00000269305.4	-	7	904_912	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000420246.2_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000574684.1_5'Flank	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		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.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(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)	CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)	uc002gim.2		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		372	Substitution - Missense(261)|Deletion - Frameshift(37)|Insertion - Frameshift(26)|Deletion - In frame(20)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.S241F(73)|p.N239D(31)|p.S241C(24)|p.N239S(19)|p.C242fs*5(15)|p.S240G(14)|p.N239fs*25(12)|p.S240R(8)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.S241A(6)|p.S240I(6)|p.N239K(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M237_N239delMCN(1)|p.S240fs*23(1)|p.N239fs*26(1)|p.C238fs*21(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.C238_N239insX(1)|p.N239_C242del(1)	large_intestine(39)|ovary(36)|haematopoietic_and_lymphoid_tissue(35)|urinary_tract(34)|breast(32)|lung(30)|endometrium(25)|oesophagus(23)|central_nervous_system(21)|biliary_tract(17)|upper_aerodigestive_tract(16)|stomach(12)|skin(10)|soft_tissue(7)|liver(7)|bone(7)|kidney(6)|pancreas(5)|thyroid(3)|prostate(3)|cervix(2)|eye(2)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD984149|CM920673|CM942121	TP53	D|M	rs28934573	c.(715-723)AACAGTTCCdel	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577558_7577566delGGAACTGTT	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.715_723delAACAGTTCC	17.37:g.7577558_7577566delGGAACTGTT	ENSP00000269305:p.Asn239_Ser241del	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_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.2_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del	p.NSS239del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	909_917	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239_241		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (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	In_Frame_Del	DEL	ENST00000269305.4	37	c.715_723delAACAGTTCC	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZNF317	57693	broad.mit.edu	37	19	9271619	9271619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:9271619T>A	ENST00000247956.6	+	7	1603	c.1298T>A	c.(1297-1299)cTt>cAt	p.L433H	ZNF317_ENST00000360385.3_Missense_Mutation_p.L401H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	433					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)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGTCCATCCTTAAGACTCAC	0.537																																						uc002mku.2																			0					0						c.(1297-1299)CTT>CAT		zinc finger protein 317							77.0	76.0	76.0					19																	9271619		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271619T>A	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1298T>A	19.37:g.9271619T>A	ENSP00000247956:p.Leu433His					ZNF317_uc002mkv.2_Missense_Mutation_p.L292H|ZNF317_uc002mkw.2_Missense_Mutation_p.L401H|ZNF317_uc002mkx.2_Missense_Mutation_p.L348H|ZNF317_uc002mky.2_Missense_Mutation_p.L316H	p.L433H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	1573	+			433			C2H2-type 8.		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1298T>A	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325164	0.60634	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.54071	0.59;0.59	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003105	T	0.72228	0.3434	M	0.87097	2.86	0.37065	D	0.898271	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79257	-0.1878	10	0.87932	D	0	-18.9286	9.5634	0.39383	0.0:0.0:0.0:1.0	.	401;433	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	H	433;401	ENSP00000247956:L433H;ENSP00000353554:L401H	ENSP00000247956:L433H	L	+	2	0	ZNF317	9132619	0.991000	0.36638	0.620000	0.29132	0.946000	0.59487	4.685000	0.61693	1.592000	0.50018	0.402000	0.26972	CTT		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
NOTCH3	4854	broad.mit.edu	37	19	15298114	15298114	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:15298114C>T	ENST00000263388.2	-	11	1717	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	548	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGCAGTCGTCCACGTTG	0.657																																						uc002nan.2																			0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(1642-1644)GAC>AAC		Notch homolog 3 precursor							80.0	62.0	68.0					19																	15298114		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298114C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1642G>A	19.37:g.15298114C>T	ENSP00000263388:p.Asp548Asn					NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	p.D548N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1718	-			548			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1642G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261309	0.23051	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95482	-3.72	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93585	0.7952	L	0.59967	1.855	0.46458	D	0.999053	P;P	0.47484	0.896;0.571	B;B	0.41917	0.37;0.05	D	0.92525	0.6028	9	0.23891	T	0.37	.	16.3643	0.83308	0.0:1.0:0.0:0.0	.	551;548	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	548;550	ENSP00000263388:D548N	ENSP00000263388:D548N	D	-	1	0	NOTCH3	15159114	0.982000	0.34865	0.996000	0.52242	0.156000	0.22039	2.479000	0.45197	2.215000	0.71742	0.655000	0.94253	GAC		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
FCGBP	8857	broad.mit.edu	37	19	40419695	40419695	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:40419695C>T	ENST00000221347.6	-	6	3306	c.3299G>A	c.(3298-3300)gGc>gAc	p.G1100D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1100						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGACTGGCCTGGCAGCAG	0.647																																						uc002omp.3																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(3298-3300)GGC>GAC		Fc fragment of IgG binding protein precursor							70.0	69.0	69.0					19																	40419695		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40419695C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3299G>A	19.37:g.40419695C>T	ENSP00000221347:p.Gly1100Asp						p.G1100D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	3307	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1100					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3299G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792563	0.70452	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	5.33	4.29	0.51040	Uncharacterised domain, cysteine-rich (2);	0.064498	0.64402	N	0.000010	D	0.82375	0.5023	L	0.55103	1.725	0.36398	D	0.862916	D	0.89917	1.0	D	0.97110	1.0	T	0.82028	-0.0660	10	0.21540	T	0.41	.	9.8398	0.40991	0.0:0.8366:0.0:0.1634	.	1100	Q9Y6R7	FCGBP_HUMAN	D	1100	ENSP00000221347:G1100D	ENSP00000221347:G1100D	G	-	2	0	FCGBP	45111535	0.132000	0.22450	0.819000	0.32651	0.969000	0.65631	3.816000	0.55658	1.475000	0.48197	0.561000	0.74099	GGC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
NLRP2	55655	broad.mit.edu	37	19	55494507	55494507	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:55494507C>T	ENST00000543010.1	+	6	1584	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	NLRP2_ENST00000391721.4_Missense_Mutation_p.R457C|NLRP2_ENST00000537859.1_Missense_Mutation_p.R459C|NLRP2_ENST00000448584.2_Missense_Mutation_p.R481C|NLRP2_ENST00000339757.7_Missense_Mutation_p.R459C|NLRP2_ENST00000427260.2_Missense_Mutation_p.R458C|NLRP2_ENST00000538819.1_Missense_Mutation_p.R457C|NLRP2_ENST00000263437.6_Missense_Mutation_p.R478C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	481	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGACCTCCGTCTGTTCCT	0.632																																						uc002qij.2																			0				ovary(1)|skin(1)	2						c.(1441-1443)CGT>TGT		NLR family, pyrin domain containing 2							38.0	38.0	38.0					19																	55494507		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494507C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1441C>T	19.37:g.55494507C>T	ENSP00000445135:p.Arg481Cys					NLRP2_uc010yfp.1_Missense_Mutation_p.R458C|NLRP2_uc010esn.2_Missense_Mutation_p.R457C|NLRP2_uc010eso.2_Missense_Mutation_p.R478C|NLRP2_uc010esp.2_Missense_Mutation_p.R459C	p.R481C	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1527	+			481			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1441C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	3.522	-0.097556	0.07010	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74315	-0.79;-0.73;-0.73;-0.79;-0.73;-0.83;-0.73;-0.79	1.75	-3.51	0.04696	.	1.827760	0.03383	N	0.200681	T	0.59004	0.2162	L	0.31664	0.95	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.002;0.003;0.002;0.001	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.003;0.002	T	0.36065	-0.9763	10	0.52906	T	0.07	.	2.8601	0.05584	0.2794:0.2555:0.0:0.4652	.	458;459;478;457;481	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	C	481;457;459;481;459;458;457;478	ENSP00000445135:R481C;ENSP00000375601:R457C;ENSP00000344074:R459C;ENSP00000409370:R481C;ENSP00000440601:R459C;ENSP00000402474:R458C;ENSP00000441133:R457C;ENSP00000263437:R478C	ENSP00000263437:R478C	R	+	1	0	NLRP2	60186319	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.040000	0.01416	-1.276000	0.02414	-0.994000	0.02522	CGT		0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
TEKT4	150483	broad.mit.edu	37	2	95537569	95537569	+	Missense_Mutation	SNP	G	G	A	rs544727913	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:95537569G>A	ENST00000295201.4	+	1	382	c.245G>A	c.(244-246)cGc>cAc	p.R82H	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.R82H	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	82					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGGCGCAGCGCACGCAGCAA	0.692													.|||	2	0.000399361	0.0015	0.0	5008	,	,		16556	0.0		0.0	False		,,,				2504	0.0					uc002stw.1																			0				ovary(1)|breast(1)|skin(1)	3						c.(244-246)CGC>CAC		tektin 4							16.0	17.0	17.0					2																	95537569		2192	4274	6466	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537569G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.245G>A	2.37:g.95537569G>A	ENSP00000295201:p.Arg82His					uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.R82H	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	338	+			82						Missense_Mutation	SNP	ENST00000295201.4	37	c.245G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021373	0.35701	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.02812	4.15;4.15	1.74	1.74	0.24563	.	0.121716	0.56097	D	0.000027	T	0.04182	0.0116	M	0.80508	2.5	0.54753	D	0.999989	B	0.32203	0.36	B	0.28784	0.094	T	0.36768	-0.9734	10	0.14656	T	0.56	-10.6904	9.0634	0.36449	0.0:0.0:1.0:0.0	.	82	Q8WW24	TEKT4_HUMAN	H	82	ENSP00000295201:R82H;ENSP00000407596:R82H	ENSP00000295201:R82H	R	+	2	0	TEKT4	94901296	0.314000	0.24563	0.748000	0.31131	0.482000	0.33219	1.919000	0.40015	0.952000	0.37798	0.558000	0.71614	CGC		0.692	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
IWS1	55677	broad.mit.edu	37	2	128238721	128238721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:128238721G>A	ENST00000295321.4	-	14	2618	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*	AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	787	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTATCCAGTCGACTGATACCC	0.388																																						uc002ton.2																			0				ovary(1)	1						c.(2359-2361)CGA>TGA		IWS1 homolog							138.0	129.0	132.0					2																	128238721		2203	4300	6503	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128238721G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2359C>T	2.37:g.128238721G>A	ENSP00000295321:p.Arg787*						p.R787*	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	14	2662	-	Colorectal(110;0.1)		787					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.2359C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	41	9.160133	0.99085	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	.	.	.	5.35	5.35	0.76521	.	0.065275	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1169	19.4441	0.94840	0.0:0.0:1.0:0.0	.	.	.	.	X	787;740	.	ENSP00000295321:R787X	R	-	1	2	IWS1	127955191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.475000	0.97721	2.671000	0.90904	0.650000	0.86243	CGA		0.388	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	
GGT1	2678	broad.mit.edu	37	22	25023517	25023517	+	Missense_Mutation	SNP	G	G	A	rs547395033	byFrequency	TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr22:25023517G>A	ENST00000400382.1	+	12	1894	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	GGT1_ENST00000403838.1_Missense_Mutation_p.G36D|GGT1_ENST00000248923.4_Missense_Mutation_p.G380D|GGT1_ENST00000406383.2_Missense_Mutation_p.G380D|GGT1_ENST00000404920.1_Missense_Mutation_p.G36D|GGT1_ENST00000400383.1_Missense_Mutation_p.G380D|GGT1_ENST00000400380.1_Missense_Mutation_p.G380D|GGT1_ENST00000404223.1_Missense_Mutation_p.G36D|GGT1_ENST00000404532.1_Missense_Mutation_p.G36D|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000401885.1_Missense_Mutation_p.G36D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	380					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)	GATGACGGGGGCACTGCTCAC	0.632													g|||	4	0.000798722	0.0	0.0	5008	,	,		11492	0.0		0.004	False		,,,				2504	0.0					uc003aan.1																			0					0						c.(1138-1140)GGC>GAC		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						23.0	22.0	23.0					22																	25023517		2197	4283	6480	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023517G>A	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.1139G>A	22.37:g.25023517G>A	ENSP00000383232:p.Gly380Asp					GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.1_Missense_Mutation_p.G380D|GGT1_uc003aav.1_Missense_Mutation_p.G380D|GGT1_uc003aaw.1_Missense_Mutation_p.G380D|GGT1_uc003aax.1_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	p.G380D	NM_013430	NP_038347	P19440	GGT1_HUMAN			12	1626	+			380			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.1139G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	16.33	3.093904	0.56075	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26	3.36	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.78637	2.42	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.11227	-1.0596	10	0.66056	D	0.02	-38.6232	14.2891	0.66265	0.0:0.0:1.0:0.0	.	380	P19440	GGT1_HUMAN	D	380;380;380;380;380;380;36;36;36;36;36	ENSP00000248923:G380D;ENSP00000393537:G380D;ENSP00000383232:G380D;ENSP00000383233:G380D;ENSP00000383231:G380D;ENSP00000385975:G380D;ENSP00000384381:G36D;ENSP00000385445:G36D;ENSP00000384820:G36D;ENSP00000385016:G36D;ENSP00000385001:G36D	ENSP00000248923:G380D	G	+	2	0	GGT1	23353517	1.000000	0.71417	0.878000	0.34440	0.110000	0.19582	9.095000	0.94175	1.886000	0.54624	0.298000	0.19748	GGC		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
PCDH7	5099	broad.mit.edu	37	4	30725870	30725870	+	Silent	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr4:30725870A>G	ENST00000361762.2	+	1	3834	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K	PCDH7_ENST00000543491.1_Silent_p.K942K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	942					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAACAAAAAATCTAAGCAGC	0.413																																						uc003gsk.1																			0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2824-2826)AAA>AAG		protocadherin 7 isoform a precursor							84.0	85.0	85.0					4																	30725870		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725870A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2826A>G	4.37:g.30725870A>G						PCDH7_uc011bxw.1_Silent_p.K895K|PCDH7_uc011bxx.1_Silent_p.K942K	p.K942K	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3834	+			942			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2826A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	2.068	-0.413848	0.04799	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.16	2.74	0.32292	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	.	7.3515	0.26693	0.6917:0.0:0.3083:0.0	.	.	.	.	V	632	.	.	I	+	1	0	PCDH7	30334968	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.298000	0.33412	0.444000	0.26612	-0.256000	0.11100	ATC		0.413	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PTCD2	79810	broad.mit.edu	37	5	71627105	71627105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:71627105A>G	ENST00000380639.5	+	4	387	c.371A>G	c.(370-372)aAt>aGt	p.N124S	PTCD2_ENST00000536805.1_Intron|PTCD2_ENST00000543322.1_Missense_Mutation_p.N124S|PTCD2_ENST00000503868.1_Intron	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	124					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGAACAAAAATTTCACTTTG	0.438																																						uc003kcb.2																			0					0						c.(370-372)AAT>AGT		pentatricopeptide repeat domain 2							179.0	183.0	182.0					5																	71627105		2203	4300	6503	SO:0001583	missense	79810							g.chr5:71627105A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.371A>G	5.37:g.71627105A>G	ENSP00000370013:p.Asn124Ser					PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.2_5'UTR|PTCD2_uc011csg.1_Intron|PTCD2_uc011csh.1_Intron|PTCD2_uc003kcd.2_RNA	p.N124S	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	4	381	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	124					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.371A>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	4.725	0.134883	0.09032	.	.	ENSG00000049883	ENST00000380639;ENST00000543322	T;T	0.55413	1.06;0.52	5.3	1.54	0.23209	.	0.280700	0.38959	N	0.001510	T	0.41236	0.1150	M	0.72118	2.19	0.80722	D	1	B	0.31413	0.322	B	0.27170	0.077	T	0.16012	-1.0417	10	0.10111	T	0.7	.	5.9388	0.19181	0.7096:0.1398:0.1506:0.0	.	124	Q8WV60	PTCD2_HUMAN	S	124	ENSP00000370013:N124S;ENSP00000438810:N124S	ENSP00000308948:N124S	N	+	2	0	PTCD2	71662861	0.983000	0.35010	0.148000	0.22405	0.429000	0.31625	2.651000	0.46674	0.119000	0.18210	0.455000	0.32223	AAT		0.438	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
SV2C	22987	broad.mit.edu	37	5	75428120	75428120	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:75428120A>G	ENST00000502798.2	+	2	987	c.545A>G	c.(544-546)gAc>gGc	p.D182G	SV2C_ENST00000322285.7_Missense_Mutation_p.D182G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	182					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGAGACAGACCTCTGCATC	0.502																																						uc003kei.1																			0				skin(1)	1						c.(544-546)GAC>GGC		synaptic vesicle glycoprotein 2C							139.0	131.0	133.0					5																	75428120		2062	4212	6274	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428120A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.545A>G	5.37:g.75428120A>G	ENSP00000423541:p.Asp182Gly						p.D182G	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	679	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	182			Extracellular (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.545A>G	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664189	0.88251	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.44482	0.92;0.92	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.83603	2.65	0.80722	D	1	D	0.59767	0.986	P	0.61874	0.895	T	0.71787	-0.4487	10	0.87932	D	0	-32.9473	15.8725	0.79132	1.0:0.0:0.0:0.0	.	182	Q496J9	SV2C_HUMAN	G	182	ENSP00000423541:D182G;ENSP00000316983:D182G	ENSP00000316983:D182G	D	+	2	0	SV2C	75463876	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.339000	0.96797	2.163000	0.67991	0.533000	0.62120	GAC		0.502	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
UQCRQ	27089	broad.mit.edu	37	5	132202700	132202701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:132202700_132202701insG	ENST00000378670.3	+	2	268_269	c.127_128insG	c.(127-129)cggfs	p.R43fs	UQCRQ_ENST00000378665.1_Frame_Shift_Ins_p.R43fs|UQCRQ_ENST00000496429.1_Intron|GDF9_ENST00000378673.2_5'Flank|UQCRQ_ENST00000378667.1_Frame_Shift_Ins_p.R43fs|GDF9_ENST00000296875.2_5'Flank|GDF9_ENST00000464378.1_5'Flank	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	43					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCCGCATTCGGGAGTCTTTC	0.634																																						uc003kya.1																			0					0						c.(127-129)CGGfs		ubiquinol-cytochrome c reductase, complex III																																				SO:0001589	frameshift_variant	27089				respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr5:132202700_132202701insG	BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	29594	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VII"", ""complex III subunit 8"""	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.130dupG	5.37:g.132202703_132202703dupG	ENSP00000367939:p.Arg43fs					GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	p.R43fs	NM_014402	NP_055217	O14949	QCR8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	201_202	+		all_cancers(142;0.105)|Breast(839;0.198)	43					Q5FVE2|Q9BV88|Q9T2V7	Frame_Shift_Ins	INS	ENST00000378670.3	37	c.127_128insG	CCDS34237.1																																																																																				0.634	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133040.1	NM_014402	
PCDHA1	56147	broad.mit.edu	37	5	140167621	140167621	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140167621G>A	ENST00000504120.2	+	1	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHA1_ENST00000378133.3_Silent_p.P582P|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	582					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657																																						uc003lhb.2																			0				skin(1)	1						c.(1744-1746)CCG>CCA		protocadherin alpha 1 isoform 1 precursor							100.0	94.0	96.0					5																	140167621		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167621G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1746G>A	5.37:g.140167621G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.P582P	p.P582P	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1746	+			582			Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1746G>A	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHGA2	56113	broad.mit.edu	37	5	140720885	140720885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140720885G>A	ENST00000394576.2	+	1	2347	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCCAGGAGAGCTGTGA	0.488																																						uc003ljk.1																			0				skin(2)|ovary(1)	3						c.(2347-2349)GAG>AAG		protocadherin gamma subfamily A, 2 isoform 1							87.0	94.0	91.0					5																	140720885		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720885G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2347G>A	5.37:g.140720885G>A	ENSP00000378077:p.Glu783Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.E783K|PCDHGA3_uc011dap.1_5'Flank	p.E783K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2532	+			783			Cytoplasmic (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2347G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.39	2.818254	0.50633	.	.	ENSG00000081853	ENST00000394576	T	0.47869	0.83	4.86	3.95	0.45737	.	0.210877	0.23250	U	0.050246	T	0.58366	0.2117	M	0.89287	3.02	0.21020	N	0.999801	B;B	0.27068	0.167;0.083	B;B	0.34452	0.183;0.022	T	0.54510	-0.8283	10	0.28530	T	0.3	.	16.2915	0.82755	0.0:0.1439:0.8561:0.0	.	783;783	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	783	ENSP00000378077:E783K	ENSP00000378077:E783K	E	+	1	0	PCDHGA2	140701069	0.996000	0.38824	1.000000	0.80357	0.890000	0.51754	0.996000	0.29719	2.536000	0.85505	0.491000	0.48974	GAG		0.488	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
TENM2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:167627098C>G	ENST00000518659.1	+	17	3431	c.3392C>G	c.(3391-3393)gCg>gGg	p.A1131G	TENM2_ENST00000519204.1_Missense_Mutation_p.A1010G|TENM2_ENST00000403607.2_Missense_Mutation_p.A955G|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131G|TENM2_ENST00000520394.1_Missense_Mutation_p.A899G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1131					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGACAGATGCGTATGGCCAA	0.478																																						uc010jjd.2																			0				ovary(6)|central_nervous_system(4)	10						c.(3364-3366)GCG>GGG		odz, odd Oz/ten-m homolog 2							145.0	151.0	149.0					5																	167627098		1987	4164	6151	SO:0001583	missense	57451							g.chr5:167627098C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3392C>G	5.37:g.167627098C>G	ENSP00000429430:p.Ala1131Gly					ODZ2_uc003lzr.3_Missense_Mutation_p.A899G|ODZ2_uc003lzt.3_Missense_Mutation_p.A495G|ODZ2_uc010jje.2_Missense_Mutation_p.A393G	p.A1122G	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	17	3365	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3365C>G		.	.	.	.	.	.	.	.	.	.	C	22.6	4.317251	0.81469	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.18;-2.17;-2.28;-2.63;-2.65	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.993	D	0.93457	0.6807	10	0.41790	T	0.15	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	1131;1131;899	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	G	1131;1131;1010;899;955	ENSP00000429430:A1131G;ENSP00000438635:A1131G;ENSP00000428964:A1010G;ENSP00000427874:A899G;ENSP00000384905:A955G	ENSP00000384905:A955G	A	+	2	0	ODZ2	167559676	1.000000	0.71417	0.792000	0.32020	0.876000	0.50452	7.818000	0.86416	2.419000	0.82065	0.561000	0.74099	GCG		0.478	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DAXX	1616	broad.mit.edu	37	6	33287338	33287338	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:33287338A>G	ENST00000374542.5	-	6	1963	c.1759T>C	c.(1759-1761)Tcc>Ccc	p.S587P	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.S587P|DAXX_ENST00000414083.2_Missense_Mutation_p.S512P	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	587	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGGAAGAGGAAATGTCCGTC	0.527			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2				Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1759-1761)TCC>CCC		death-domain associated protein isoform a							80.0	83.0	82.0					6																	33287338		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287338A>G	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1759T>C	6.37:g.33287338A>G	ENSP00000363668:p.Ser587Pro					ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.S512P|DAXX_uc011dre.1_Missense_Mutation_p.S599P|DAXX_uc003oed.2_Missense_Mutation_p.S587P	p.S587P	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			6	1963	-			587			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1759T>C	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266523	0.23136	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.69	0.816	0.18768	.	0.646986	0.15698	N	0.249042	T	0.10723	0.0262	L	0.36672	1.1	0.29067	N	0.883517	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.15292	-1.0442	9	0.48119	T	0.1	-11.4897	0.8992	0.01270	0.4848:0.2053:0.1124:0.1976	.	599;587	B4E1C1;Q9UER7	.;DAXX_HUMAN	P	587;587;512	.	ENSP00000266000:S587P	S	-	1	0	DAXX	33395316	0.990000	0.36364	0.820000	0.32676	0.032000	0.12392	1.236000	0.32683	0.284000	0.22305	0.448000	0.29417	TCC		0.527	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
UBE3D	90025	broad.mit.edu	37	6	83728822	83728822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:83728822delC	ENST00000369747.3	-	8	1002	c.880delG	c.(880-882)gaafs	p.E294fs		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	294					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CTCAAAGATTCAATCACCAAA	0.353																																						uc003pjp.2																			0				ovary(1)	1						c.(880-882)GAAfs		ubiquitin-conjugating enzyme E2C binding							53.0	57.0	55.0					6																	83728822		2203	4300	6503	SO:0001589	frameshift_variant	90025					cytoplasm	ligase activity	g.chr6:83728822delC	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.880delG	6.37:g.83728822delC	ENSP00000358762:p.Glu294fs					UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Frame_Shift_Del_p.E84fs	p.E294fs	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	8	988	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	294					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Frame_Shift_Del	DEL	ENST00000369747.3	37	c.880delG	CCDS34491.1																																																																																				0.353	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920	
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:93516588G>A	ENST00000222543.5	-	4	928	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	206	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323																																						uc003umy.1																			0				pancreas(1)	1						c.(616-618)CGT>TGT		tissue factor pathway inhibitor 2 precursor							102.0	90.0	94.0					7																	93516588		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516588G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.616C>T	7.37:g.93516588G>A	ENSP00000222543:p.Arg206Cys					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C|TFPI2_uc003unb.1_Missense_Mutation_p.R212C|TFPI2_uc010lfg.1_Missense_Mutation_p.R82C	p.R206C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	691	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		206			BPTI/Kunitz inhibitor 3.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.616C>T	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528041	0.44969	.	.	ENSG00000105825	ENST00000222543	T	0.59083	0.29	5.47	-0.276	0.12902	Proteinase inhibitor I2, Kunitz metazoa (6);	1.098040	0.06910	N	0.807456	T	0.73575	0.3604	M	0.69185	2.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.63597	0.916;0.877;0.877	T	0.68465	-0.5401	10	0.59425	D	0.04	.	16.4475	0.83942	0.0:0.0:0.2316:0.7684	.	138;195;206	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	C	206	ENSP00000222543:R206C	ENSP00000222543:R206C	R	-	1	0	TFPI2	93354524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.028000	0.15324	0.655000	0.94253	CGT		0.323	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
ASZ1	136991	broad.mit.edu	37	7	117024817	117024817	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:117024817A>G	ENST00000284629.2	-	6	712	c.650T>C	c.(649-651)aTg>aCg	p.M217T		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCACTTGGCATCTTTCCATC	0.353																																						uc003vjb.2																			0				central_nervous_system(2)|ovary(1)	3						c.(649-651)ATG>ACG		ankyrin repeat, SAM and basic leucine zipper							168.0	151.0	156.0					7																	117024817		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024817A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.650T>C	7.37:g.117024817A>G	ENSP00000284629:p.Met217Thr					ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	p.M217T	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		6	713	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		217			ANK 6.			Missense_Mutation	SNP	ENST00000284629.2	37	c.650T>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	0.078	-1.188873	0.01607	.	.	ENSG00000154438	ENST00000284629	T	0.61742	0.08	5.83	3.96	0.45880	Ankyrin repeat-containing domain (3);	0.286793	0.40908	N	0.000984	T	0.18676	0.0448	N	0.00263	-1.745	0.28289	N	0.923655	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29150	-1.0021	10	0.02654	T	1	-22.0915	12.9271	0.58266	0.0926:0.0:0.9074:0.0	.	217;217	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	T	217	ENSP00000284629:M217T	ENSP00000284629:M217T	M	-	2	0	ASZ1	116812053	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	3.681000	0.54648	0.741000	0.32674	-0.250000	0.11733	ATG		0.353	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
KEL	3792	broad.mit.edu	37	7	142658531	142658531	+	Missense_Mutation	SNP	G	G	A	rs150577967		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:142658531G>A	ENST00000355265.2	-	3	613	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	47					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGCACCCGCCTGGCCACT	0.547																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(139-141)CGG>TGG		Kell blood group, metallo-endopeptidase		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	32.0	31.0	31.0		139	-3.8	0.0	7	dbSNP_134	31	0,8598		0,0,4299	no	missense	KEL	NM_000420.2	101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	47/733	142658531	1,13003	2203	4299	6502	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658531G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.139C>T	7.37:g.142658531G>A	ENSP00000347409:p.Arg47Trp						p.R47W	NM_000420	NP_000411	P23276	KELL_HUMAN			3	349	-	Melanoma(164;0.059)		47			Cytoplasmic (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.139C>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.605365|1.605365	0.28623|0.28623	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.85088	.|-1.65;0.82;-1.94	4.62|4.62	-3.84|-3.84	0.04256|0.04256	.|.	.|0.765630	.|0.11177	.|N	.|0.591376	T|T	0.61615|0.61615	0.2361|0.2361	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.06405	.|0.002	T|T	0.48210|0.48210	-0.9055|-0.9055	5|10	.|0.40728	.|T	.|0.16	-1.7628|-1.7628	0.5035|0.5035	0.00584|0.00584	0.2816:0.1325:0.1832:0.4027|0.2816:0.1325:0.1832:0.4027	.|.	.|47	.|P23276	.|KELL_HUMAN	V|W	57|47;47;28	.|ENSP00000347409:R47W;ENSP00000419889:R47W;ENSP00000420011:R28W	.|ENSP00000347409:R47W	A|R	-|-	2|1	0|2	KEL|KEL	142368653|142368653	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.032000|0.032000	0.12392|0.12392	-2.139000|-2.139000	0.01302|0.01302	-0.655000|-0.655000	0.05387|0.05387	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
KMT2C	58508	broad.mit.edu	37	7	151927093	151927093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:151927093C>A	ENST00000262189.6	-	18	3109	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G964V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	964					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCAAAACTGCCACAAACTAC	0.348																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2890-2892)GGC>GTC		myeloid/lymphoid or mixed-lineage leukemia 3							62.0	51.0	55.0					7																	151927093		2200	4278	6478	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927093C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2891G>T	7.37:g.151927093C>A	ENSP00000262189:p.Gly964Val					MLL3_uc003wkz.2_Missense_Mutation_p.G25V	p.G964V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3110	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	964			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2891G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.211290|3.211290	0.58343|0.58343	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.89196|.	-2.48;-2.48|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.41712|.	U|.	0.000833|.	T|T	0.76076|0.76076	0.3937|0.3937	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.77305|0.77305	-0.2637|-0.2637	10|5	0.87932|.	D|.	0|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	964;25|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	V|C	964|119	ENSP00000262189:G964V;ENSP00000347325:G964V|.	ENSP00000262189:G964V|.	G|W	-|-	2|3	0|0	MLL3|MLL3	151558026|151558026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.770000|7.770000	0.85390|0.85390	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	GGC|TGG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
TLE4	7091	broad.mit.edu	37	9	82324566	82324566	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:82324566G>A	ENST00000376552.2	+	14	2310	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	TLE4_ENST00000376520.4_Missense_Mutation_p.R463H|TLE4_ENST00000376534.4_Missense_Mutation_p.R68H|TLE4_ENST00000265284.6_Missense_Mutation_p.R406H|TLE4_ENST00000376544.3_Missense_Mutation_p.R362H|TLE4_ENST00000376537.4_Missense_Mutation_p.R463H	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	431					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCACATGCGTGTGCCAGCA	0.438																																						uc004ald.2																			0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1366-1368)CGT>CAT		transducin-like enhancer protein 4							102.0	104.0	103.0					9																	82324566		1950	4152	6102	SO:0001583	missense	7091							g.chr9:82324566G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1292G>A	9.37:g.82324566G>A	ENSP00000365735:p.Arg431His					TLE4_uc004alc.2_Missense_Mutation_p.R431H|TLE4_uc010mpr.2_Missense_Mutation_p.R310H|TLE4_uc004ale.2_Missense_Mutation_p.R68H|TLE4_uc011lsq.1_Missense_Mutation_p.R399H|TLE4_uc010mps.2_Missense_Mutation_p.R355H|TLE4_uc004alf.2_Missense_Mutation_p.R370H	p.R456H	NM_007005	NP_008936	O60756	BCE1_HUMAN			15	2216	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1367G>A	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.950719|5.950719	0.97139|0.97139	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284;ENST00000467142|ENST00000417836	T;T;T;T;T;T;T|.	0.63096|.	0.63;0.77;0.82;0.82;0.53;0.71;-0.02|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85461|0.85461	0.5702|0.5702	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.984;0.996;0.991|.	D|D	0.86411|0.86411	0.1748|0.1748	10|5	0.62326|.	D|.	0.03|.	-17.2032|-17.2032	20.2963|20.2963	0.98556|0.98556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	406;362;463;431|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.	.;.;.;TLE4_HUMAN|.	H|M	431;362;463;463;68;406;159|196	ENSP00000365735:R431H;ENSP00000365727:R362H;ENSP00000365703:R463H;ENSP00000365720:R463H;ENSP00000365717:R68H;ENSP00000265284:R406H;ENSP00000418409:R159H|.	ENSP00000265284:R406H|.	R|V	+|+	2|1	0|0	TLE4|TLE4	81514386|81514386	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	9.813000|9.813000	0.99286|0.99286	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.438	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
SPATA31D1	389763	broad.mit.edu	37	9	84605747	84605747	+	Missense_Mutation	SNP	G	G	A	rs267602287		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:84605747G>A	ENST00000344803.2	+	4	409	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	121					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AACCACTTTCGTCGACTGTTA	0.537																																						uc004amn.2																			0					0						c.(361-363)CGT>CAT		hypothetical protein LOC389763							101.0	92.0	95.0					9																	84605747		1974	4153	6127	SO:0001583	missense	389763					integral to membrane		g.chr9:84605747G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.362G>A	9.37:g.84605747G>A	ENSP00000341988:p.Arg121His						p.R121H	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	409	+			121						Missense_Mutation	SNP	ENST00000344803.2	37	c.362G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308513	0.40895	.	.	ENSG00000214929	ENST00000344803	T	0.11495	2.77	2.89	-1.54	0.08584	.	0.558816	0.15199	N	0.275139	T	0.03220	0.0094	N	0.05012	-0.13	0.09310	N	1	P	0.51653	0.947	B	0.37480	0.251	T	0.41034	-0.9531	10	0.40728	T	0.16	-6.8593	2.8567	0.05574	0.3792:0.0:0.4206:0.2002	.	121	Q6ZQQ2	F75D1_HUMAN	H	121	ENSP00000341988:R121H	ENSP00000341988:R121H	R	+	2	0	FAM75D1	83795567	0.612000	0.27000	0.000000	0.03702	0.001000	0.01503	1.613000	0.36900	-0.315000	0.08703	-0.311000	0.09066	CGT		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
ZNF618	114991	broad.mit.edu	37	9	116779034	116779034	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:116779034C>A	ENST00000374126.5	+	10	913	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF618_ENST00000288466.7_Missense_Mutation_p.Q260K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACTCCCTACCAGGAGCATGT	0.572																																						uc004bid.2																			0					0						c.(814-816)CAG>AAG		zinc finger protein 618							78.0	77.0	77.0					9																	116779034		1944	4146	6090	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116779034C>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.814C>A	9.37:g.116779034C>A	ENSP00000363241:p.Gln272Lys					ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.2_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.1_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.1_Missense_Mutation_p.Q240K	p.Q272K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			10	913	+			272			C2H2-type 3.		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.814C>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.626316	0.87560	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T;T	0.26810	1.71;1.71;2.78;2.19	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.29908	0.895	0.36345	D	0.859749	D;P;D;B;D	0.67145	0.969;0.865;0.991;0.342;0.996	D;P;D;B;D	0.74348	0.93;0.824;0.983;0.399;0.979	T	0.29458	-1.0011	10	0.33940	T	0.23	-20.8988	17.1697	0.86826	0.0:1.0:0.0:0.0	.	260;240;272;260;240	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	K	272;260;248;260	ENSP00000363241:Q272K;ENSP00000288466:Q260K;ENSP00000395400:Q248K;ENSP00000363239:Q260K	ENSP00000288466:Q260K	Q	+	1	0	ZNF618	115818855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.105000	0.77031	2.652000	0.90054	0.655000	0.94253	CAG		0.572	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
MAP3K15	389840	broad.mit.edu	37	X	19431486	19431486	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chrX:19431486G>T	ENST00000338883.4	-	11	1686	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.P395T|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	563							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATTTCTGTGGGTGAGACATGC	0.398																																						uc004czk.1																			0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(13-15)ACC>AAC		mitogen-activated protein kinase kinase kinase							261.0	233.0	243.0					X																	19431486		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19431486G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1687C>A	X.37:g.19431486G>T	ENSP00000345629:p.Pro563Thr					MAP3K15_uc004czj.1_5'UTR	p.T5N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			11	1651	-	Hepatocellular(33;0.183)		Error:Variant_position_missing_in_Q6ZN16_after_alignment					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.14C>A		.	.	.	.	.	.	.	.	.	.	G	17.61	3.432515	0.62844	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.72505	-0.66;-0.64	4.92	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.83953	2.67	0.53005	D	0.999968	.	.	.	.	.	.	T	0.79408	-0.1816	8	0.54805	T	0.06	.	10.823	0.46617	0.1587:0.0:0.8413:0.0	.	.	.	.	T	563;395	ENSP00000345629:P563T;ENSP00000428356:P395T	ENSP00000345629:P563T	P	-	1	0	MAP3K15	19341407	1.000000	0.71417	0.918000	0.36340	0.968000	0.65278	6.317000	0.72862	0.443000	0.26582	0.415000	0.27848	CCC		0.398	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
